Articoli su iris.unipa.it inerenti le malattie rare del metabolismo
Ascolta
| Acidemia glutarica non tipizzata | Untyped glutaric acidemia |
| Acidemia glutarica tipo I (SNE) | Type I glutaric acidemia (ENS) |
| Acidemia isovalerica (SNE) | Isovaleric acidemia (ENS) |
| Acidemia metilmalonica CbIA, CbIB (SNE) | Methylmalonic acidemia CbIA, CbIB (ENS) |
| Acidemia metilmalonica non tipizzata | Untyped methylmalonic acidemia |
| Acidemia metilmalonica, CbIC , CbID (SNE) | Methylmalonic acidemia, CbIC , CbID (SNE) |
| Acidemia metilmalonica, mutasi (SNE) | Methylmalonic acidemia, mutase (EMS) |
| Acidemia propionica (SNE) | Propionic acidemia (ENS) |
| Acidemie organiche e acidosi lattiche primitive | Organic acidemias and primary lactic acidosis |
| Aciduria 2-metil 3-idrossibutirrico (SNE) | 2-Methyl 3-Hydroxybutyric aciduria (SNE) |
| Aciduria 3-idrossi 3-metilglutarica (SNE) | 3-Hydroxy 3-methylglutaric aciduria (ENS) |
| Aciduria 3-metilglutaconica (SNE) | 3-methylglutaconic aciduria (ENS) |
| Aciduria idrossiglutarica | Hydroxyglutaric aciduria |
| Aciduria malonica (SNE) | Malonic aciduria (ENS) |
| Albinismo | Albinism |
| Alcaptonuria | Alkaptonuria |
| Cistinosi | Cystinosis |
| Cistinuria | Cystinuria |
| Deficit 2-metilbutiril CoA deidrogenasi (SNE) | 2-Methylbutyryl CoA dehydrogenase (ENS) deficiency |
| Deficit 3-metilcrotonil CoA carbossilasi (SNE) | 3-Methylcrotonyl CoA carboxylase (SNE) deficiency |
| Deficit Beta-C hetotiolasi (SNE) | Beta-C hetothiolase (ENS) deficiency |
| Deficit biosintesi cofattore biopterina (SNE) | Biopterin Cofactor (SNE) Biosynthesis Deficiency |
| Deficit isobutiril CoA deidrogenasi (SNE) | Isobutyryl CoA dehydrogenase (ENS) deficiency |
| Deficit multiplo carbossilasi (SNE) | Multiple Carboxylase Deficiency (ENS) |
| Deficit piruvato carbossilasi (SNE) | Pyruvate carboxylase (ENS) deficiency |
| Deficit rigenerazione cofattore biopterina (SNE) | Biopterin Cofactor Regeneration (ENS) Deficiency |
| Encefalopatia etilmalonica (SNE) | Ethylmalonic encephalopathy (ENS) |
| Fanconi sindrome renale | Fanconi renal syndrome |
| Fenilchetonuria (SNE) | Phenylketonuria (ENS) |
| Hartnup malattia di | Hartnup's disease |
| Iminoacidemia | Iminoacidemia |
| Intolleranza alle proteine con lisinuria | Protein intolerance with lysinuria |
| Iper-Beta-Alaninemia | Hyper-Beta-Alaninemia |
| Iperfenilalaninemia non PKU (benigna) (SNE) | Non-PKU (benign) hyperphenylalaninaemia (ENS) |
| Iperglicinemia non chetotica | Non-ketotic hyperglycinemia |
| Iperistidinemia | Hyperhistidinemia |
| Iperlisinemia | Hyperlysinemia |
| Ipermetioninemia (SNE) | Hypermethioninemia (ENS) |
| Iperprolinemia | Hyperprolinaemia |
| Ipervalinemia | Hypervalinemia |
| Malattia delle urine a sciroppo di acero (SNE) | Maple syrup urine disease (ENS) |
| Omocistinuria (Omocistinuria-deficit CBS, SNE) | Homocystinuria (Homocystinuria-deficiency CBS, ENS) |
| Ornitina aminotransferasi deficit di | Ornithine aminotransferase deficiency |
| Prolidasi deficit di | Prolidase deficiency |
| Sindrome da malassorbimento di metionina | Methionine malabsorption syndrome |
| Sindrome HHH (Iperornitinemia, Iperammonemia e Omocitrullinuria) | HHH Syndrome (Hyperornithinemia, Hyperammonemia and Homocitrullinuria) |
| Tirosinemia non tipizzata | Untyped tyrosinemia |
| Tirosinemia tipo I (SNE) | Type I tyrosinemia (ENS) |
| Tirosinemia tipo II (SNE) | Type II tyrosinemia (ENS) |
| Tirosinemia tipo III (SNE) | Type III tyrosinemia (ENS) |
| Difetti congeniti del metabolismo del ciclo dell’urea e iperammoniemie ereditarie | Congenital defects of the urea cycle metabolism and hereditary hyperammonemia |
| Acidemia argininosuccinica (SNE) | Argininosuccinic acidemia (ENS) |
| Argininemia (SNE) | Argininaemia (ENS) |
| Carbamil-fosfato-sintetasi (CPS) deficit di | Carbamyl phosphate synthetase (CPS) deficiency |
| Citrullinemia tipo I (SNE) | Type I citrullinemia (ENS) |
| Citrullinemia tipo II (SNE) | Citrullinemia type II (ENS) |
| N-acetil-glutammato-sintetasi (NAGS) deficit di | N-acetyl glutamate synthetase (NAGS) deficiency |
| Ornitina transcarbamilasi (OTC ) deficit di | Ornithine transcarbamylase (OTC ) deficiency |
| Difetti congeniti del metabolismo e del trasporto dei carboidrati | Congenital defects of carbohydrate metabolism and transport |
| Aspartilglucosaminuria | Aspartylglucosaminuria |
| Deficit congenito di lattasi | Congenital lactase deficiency |
| Difetti del trasporto del glucosio | Glucose transport defects |
| Fruttosio-1,6 difosfatasi deficit di | Fructose-1,6 diphosphatase deficiency |
| Galattosemia | Galactosemia |
| Glicogenosi per deficit di fosforilasi chinasi | Glycogen storage disease due to phosphorylase kinase deficiency |
| Glicogenosi tipo 1 | Type 1 glycogen storage disease |
| Glicogenosi tipo 2 | Type 2 glycogen storage disease |
| Glicogenosi tipo 3 | Type 3 glycogen storage disease |
| Glicogenosi tipo 4 | Type 4 glycogen storage disease |
| Glicogenosi tipo 5 | Type 5 glycogen storage disease |
| Glicogenosi tipo 6 | Type 6 glycogen storage disease |
| Glicogenosi tipo 7 | Type 7 glycogen storage disease |
| Glicogenosi tipo 10 | Type 10 glycogen storage disease |
| Glicogenosi tipo 11 | Type 11 glycogen storage disease |
| Glicogenosi tipo 12 | Type 12 glycogen storage disease |
| Glicogenosi tipo 13 | Type 13 glycogen storage disease |
| Glicogeno-sintetasi deficit di | Glycogen synthetase deficiency |
| Intolleranza ereditaria al fruttosio | Hereditary fructose intolerance |
| Iperossaluria primaria | Primary hyperoxaluria |
| Malassorbimento di glucosio e galattosio | Malabsorption of glucose and galactose |
| Malattia da corpi poliglucosani | Polyglucosan body disease |
| Saccarasi isomaltasi deficit di | Sucrase isomaltase deficiency |
| Iperinsulinismi congeniti | Congenital hyperinsulinisms |
| Difetti congeniti del metabolismo delle lipoproteine | Congenital defects of lipoprotein metabolism |
| Abetalipoproteinemia | Abetalipoproteinemia |
| Beta ossidazione deficit di | Beta oxidation deficiency |
| Carnitina muscolare deficit di | Muscle carnitine deficiency |
| Deficit familiare di lipasi lipoproteica | Familial lipoprotein lipase deficiency |
| Ipercolesterolemia familiare omozigote | Homozygous familial hypercholesterolaemia |
| Ipertrigliceridemia familiare | Familial hypertriglyceridemia |
| Ipoalfalipoproteinemia familiare | Familial hypoalphalipoproteinemia |
| Ipobetalipoproteinemia familiare | Familial hypobetalipoproteinemia |
| Lecitina-Colesterolo-Aciltransferasi deficit di | Lecithin-cholesterol-acyltransferase deficiency |
| Tangier malattia di | Tangier's disease |
| Difetti congeniti della sintesi del colesterolo | Congenital defects of cholesterol synthesis |
| Smith-Lemli-Opitz sindrome di | Smith-Lemli-Opitz syndrome |
| Difetti congeniti della sintesi degli acidi biliari | Congenital defects of bile acid synthesis |
| CoA ligasi degli acidi biliari deficit di | CoA ligase bile acid deficiency |
| Difetto congenito della sintesi degli acidi biliari tipo 1 | Congenital defect of bile acid synthesis type 1 |
| Difetto congenito della sintesi degli acidi biliari tipo 2 | Congenital defect of bile acid synthesis type 2 |
| Difetto congenito della sintesi degli acidi biliari tipo 3 | Congenital defect of bile acid synthesis type 3 |
| Difetto congenito della sintesi degli acidi biliari tipo 4 | Congenital defect of bile acid synthesis type 4 |
| Ipercolanemia familiare | familial hypercholanemia |
| Xantomatosi cerebrotendinea | Cerebrotendinous xanthomatosis |
| Difetti congeniti della sintesi dei fosfolipidi e dei glicosfingolipidi | Congenital defects of the synthesis of phospholipids and glycosphingolipids |
| Sindrome PHARC | PHARC syndrome |
| Lipodistrofia totale | Total lipodystrophy |
| Dercum malattia di | Dercum's disease |
| Malattie perossisomiali | Peroxisomal diseases |
| Acidemia pipecolica | Pipecolic acidemia |
| Condrodisplasia punctata rizomelica | Rhizomelic chondrodysplasia punctata |
| Adrenoleucodistrofia | Adrenoleukodystrophy |
| Zellweger sindrome di | Zellweger syndrome |
| Difetti congeniti del metabolismo dei neurotrasmettitori e dei piccoli peptidi | Congenital defects of neurotransmitter and small peptide metabolism |
| Dopamina beta-idrossilasi deficit di | Dopamine beta-hydroxylase deficiency |
| Iperekplexia ereditaria | Hereditary hyperekplexia |
| Difetti congeniti del metabolismo delle porfirine e dell’EME | Congenital defects of metabolism of porphyrins and heme |
| Coproporfiria ereditaria | Hereditary coproporphyria |
| Porfiria acuta intermittente | Acute intermittent porphyria |
| Porfiria cutanea tarda | Porphyria Cutanea Tarda |
| Porfiria da deficit di ALAD | ALAD-deficiency porphyria |
| Porfiria eritropoietica congenita | Congenital erythropoietic porphyria |
| Porfiria eritropoietica epatica | Hepatic erythropoietic porphyria |
| Porfiria variegata | variegated porphyria |
| Protoporfiria eritropoietica | Erythropoietic protoporphyria |
| Difetti congeniti del metabolismo delle purine e delle pirimidine | Congenital defects of purine and pyrimidine metabolism |
| Adenilsuccinasi deficit di | Adenylsuccinase deficiency |
| Adenina-fosforibosil-transferasi deficit di | Adenine phosphoribosyl transferase deficiency |
| Diidropirimidina deidrogenasi deficit di | Dihydropyrimidine dehydrogenase deficiency |
| Lesch-Nyhan malattia di | Lesch-Nyhan disease |
| Oroticoaciduria | Orotic aciduria |
| Xantinuria | Xanthinuria |
| Ipofosfatasia | Hypophosphatasia |
| Calcinosi tumorale | Tumor calcinosis |
| Difetti congeniti della ossidazione mitocondriale degli acidi grassi | Congenital defects of mitochondrial oxidation of fatty acids |
| Acidemia glutarica tipo II (SNE) | Type II glutaric acidemia (ENS) |
| Deficit 3-idrossiacil CoA deidrogenasi a catena media-corta (SNE) | Medium-short chain 3-hydroxyacyl CoA dehydrogenase (SNE) deficiency |
| Deficit carnitina-acilcarnitinatranslocasi (SNE) | Carnitine-acylcarnitine translocase (ENS) deficiency |
| Deficit chetoacil CoA deidrogenasi a catena media (SNE) | Medium Chain Ketoacyl CoA Dehydrogenase (ENS) Deficiency |
| Deficit del trasporto carnitina (SNE) | Carnitine transport deficiency (ENS) |
| Deficit di acil-CoA deidrogenasi a catena corta, SCAD (SNE) | Short-chain acyl-CoA dehydrogenase deficiency, SCAD (SNE) |
| Deficit di acil-CoA deidrogenasi a catena media, MCAD (SNE) | Medium-chain acyl-CoA dehydrogenase, MCAD (SNE) deficiency |
| Deficit di carnitina palmitoil-transferasi (SNE) | Carnitine palmitoyl transferase (ENS) deficiency |
| Deficit di carnitina palmitoil-transferasi II (SNE) | Carnitine palmitoyl transferase II (ENS) deficiency |
| Deficit di carnitina palmitoil-transferasi non tipizzato | Carnitine palmitoyl transferase deficiency not typed |
| Deficit dienoil reduttasi (SNE) | Dienoyl reductase (SNE) deficiency |
| Deficit idrossiacilC oA deidrogenasi a catena lunga, LCAD (SNE) | Long-chain hydroxyacylC oA dehydrogenase deficiency, LCAD (SNE) |
| Deficit idrossiacilC oA deidrogenasi a catena molto lunga, VLC AD (SNE) | Very long chain hydroxyacylC oA dehydrogenase deficiency, VLC AD (ENS) |
| Deficit proteina trifunzionale (SNE) | Trifunctional protein deficiency (ENS) |
| Difetti congeniti della chetogenesi e della chetolisi | Congenital defects of ketogenesis and ketolysis |
| Alfa metil acetoacetilC oA tiolasi deficit di | Alpha methyl acetoacetylC oA thiolase deficiency |
| Difetti congeniti del metabolismo del piruvato e del ciclo degli acidi tricarbossilici | Congenital defects of pyruvate metabolism and the tricarboxylic acid cycle |
| Piruvato deidrogenasi fosfatasi deficit di | Pyruvate dehydrogenase phosphatase deficiency |
| Difetti congeniti isolati di un complesso della fosforilazione ossidativa mitocondriale | Isolated birth defects of a mitochondrial oxidative phosphorylation complex |
| Citocromo Cossidasi deficit di | Cytochrome Cossidase deficiency |
| Difetti congeniti della fosforilazione ossidativa mitocondriale da alterazioni del DNA mitocondriale | Congenital defects of mitochondrial oxidative phosphorylation due to mitochondrial DNA alterations |
| Oftalmoplegia esterna progressiva | Progressive external ophthalmoplegia |
| Sindrome NARP | NARP syndrome |
| MELAS sindrome | MELAS syndrome |
| MERRF sindrome | MERRF syndrome |
| Atrofia ottica di Leber | Leber optic atrophy |
| Pearson sindrome di | Pearson syndrome |
| Alpers malattia di | Alpers disease |
| KearnsSayre sindrome di | Kearns Sayre syndrome |
| Difetti della fosforilazione ossidativa mitocondriale da alterazioni del DNA nucleare | Mitochondrial oxidative phosphorylation defects due to nuclear DNA alterations |
| Deficit del coenzima Q10 | Coenzyme Q10 deficiency |
| Leigh malattia di | Leigh's disease |
| Sindromi da deficit congenito di creatina | Syndromes of congenital deficiency of creatine |
| Guanidinoacetato-metiltransferasi (GAMT) deficit di | Guanidinoacetate methyltransferase (GAMT) deficiency |
| Altri difetti congeniti del metabolismo energetico mitocondriale | Other congenital defects of mitochondrial energy metabolism |
| Deficit congenito del trasportatore mitocondriale di aspartato-glutammato tipo 1 | Congenital deficiency of the mitochondrial aspartate-glutamate transporter type 1 |
| Difetti da accumulo di lipidi | Lipid storage defects |
| Chanarin-Dorfman malattia di | Chanarin-Dorfman disease |
| Esteri del colesterolo malattia da accumulo di | Cholesterol foreign storage disease |
| Fabry malattia di | Fabry disease |
| Gaucher malattia di | Gaucher's disease |
| NiemannPick malattia di | NiemannPick's disease |
| Mucopolisaccaridosi | Mucopolysaccharidosis |
| Mucopolisaccaridosi non tipizzata | Untyped mucopolysaccharidosis |
| Mucopolisaccaridosi tipo 1 | Mucopolysaccharidosis type 1 |
| Mucopolisaccaridosi tipo 2 | Mucopolysaccharidosis type 2 |
| Mucopolisaccaridosi tipo 3 | Mucopolysaccharidosis type 3 |
| Mucopolisaccaridosi tipo 4 | Mucopolysaccharidosis type 4 |
| Mucopolisaccaridosi tipo 6 | Mucopolysaccharidosis type 6 |
| Mucopolisaccaridosi tipo 7 | Mucopolysaccharidosis type 7 |
| Mucopolisaccaridosi tipo 9 | Mucopolysaccharidosis type 9 |
| Mucolipidosi | Mucolipidosis |
| Mucolipidosi tipo 2 | Mucolipidosis type 2 |
| Mucolipidosi tipo 3 | Mucolipidosis type 3 |
| Mucolipidosi tipo 4 | Mucolipidosis type 4 |
| Oligosaccaridosi | Oligosaccharidosis |
| Fucosidosi | Fucosidosis |
| Galattosialidosi | Galactosialidosis |
| Malattia da accumulo di acido sialico | Sialic acid storage disease |
| Mannosidosi | Mannosidosis |
| Schindler malattia di | Schindler's disease |
| Sialidosi | Sialidosis |
| Gangliosidosi | Gangliosidosis |
| Gangliosidosi-GM1 | Gangliosidosis-GM1 |
| Gangliosidosi-GM2 | Gangliosidosis-GM2 |
| Ceroido-lipofuscinosi | Ceroid lipofuscinosis |
| Altre malattie da accumulo lisosomiale | Other lysosomal storage diseases |
| Austin sindrome di | Austin syndrome |
| Wolman malattia di | Wolman's disease |
| Farber malattia di | Farber's disease |
| Difetti congeniti responsivi alla biotina | Congenital defects responsive to biotin |
| Difetti congeniti del metabolismo e del trasporto della cobalamina e del folato | Congenital defects of cobalamin and folate metabolism and transport |
| Cobalamina C deficit congenito di | Cobalamin C congenital deficiency |
| Difetti congeniti del metabolismo e del trasporto della vitamina D | Congenital defects of vitamin D metabolism and transport |
| Rachitismo vitamina D dipendente tipo 1 | Vitamin D dependent rickets type 1 |
| Rachitismo ipofosfatemico vitamina D resistente | Vitamin D resistant hypophosphatemic rickets |
| Altri difetti congeniti del metabolismo e del trasporto di vitamine e cofattori non proteici | Other inborn errors of metabolism and transport of vitamins and non-protein cofactors |
| 5-piridossamina fosfato ossidasi deficit di | 5-pyridoxamine phosphate oxidase deficiency |
| Difetti congeniti del metabolismo e del trasporto del ferro | Congenital defects of iron metabolism and transport |
| DMT1 deficit di | DMT1 deficiency |
| Emocromatosi ereditaria non determinata | Undetermined hereditary hemochromatosis |
| Emocromatosi ereditaria tipo 1 | Hereditary hemochromatosis type 1 |
| Emocromatosi ereditaria tipo 2A | Hereditary hemochromatosis type 2A |
| Emocromatosi ereditaria tipo 2B | Hereditary hemochromatosis type 2B |
| Emocromatosi ereditaria tipo 3 | Hereditary hemochromatosis type 3 |
| Emocromatosi ereditaria tipo 4 | Hereditary hemochromatosis type 4 |
| IRIDA (Iron Refractory Iron Deficiency Anemia) | IRIDA (Iron Refractory Iron Deficiency Anemia) |
| Sindrome iperferritinemia-cataratta | Hyperferritinemia-cataract syndrome |
| Aceruloplasminemia congenita | Congenital aceruloplasminemia |
| Atransferrinemia congenita | Congenital atransferrinemia |
| Difetti congeniti del metabolismo e del trasporto dello zinco | Congenital defects of zinc metabolism and transport |
| Deficienza congenita di zinco | Congenital zinc deficiency |
| Difetti congeniti del metabolismo del rame | Congenital defects of copper metabolism |
| Menkes sindrome di | Menkes syndrome |
| Wilson malattia di | Wilson's disease |
| Altri difetti congeniti del metabolismo e del trasporto dei metalli | Other congenital defects of metal metabolism and transport |
| Ipomagnesemia ereditaria primitiva | Primary hereditary hypomagnesaemia |
| Amiloidosi sistemiche | Systemic amyloidosis |
| Crigler-Najjar sindrome di | Crigler-Najjar syndrome |
Articoli su pubmed.ncbi.nlm.nih.gov inerenti le malattie rare del metabolismo
Ascolta
| Acidemia glutarica non tipizzata | Untyped glutaric acidemia |
| Acidemia glutarica tipo I (SNE) | Type I glutaric acidemia (ENS) |
| Acidemia isovalerica (SNE) | Isovaleric acidemia (ENS) |
| Acidemia metilmalonica CbIA, CbIB (SNE) | Methylmalonic acidemia CbIA, CbIB (ENS) |
| Acidemia metilmalonica non tipizzata | Untyped methylmalonic acidemia |
| Acidemia metilmalonica, CbIC , CbID (SNE) | Methylmalonic acidemia, CbIC , CbID (SNE) |
| Acidemia metilmalonica, mutasi (SNE) | Methylmalonic acidemia, mutase (EMS) |
| Acidemia propionica (SNE) | Propionic acidemia (ENS) |
| Acidemie organiche e acidosi lattiche primitive | Organic acidemias and primary lactic acidosis |
| Aciduria 2-metil 3-idrossibutirrico (SNE) | 2-Methyl 3-Hydroxybutyric aciduria (SNE) |
| Aciduria 3-idrossi 3-metilglutarica (SNE) | 3-Hydroxy 3-methylglutaric aciduria (ENS) |
| Aciduria 3-metilglutaconica (SNE) | 3-methylglutaconic aciduria (ENS) |
| Aciduria idrossiglutarica | Hydroxyglutaric aciduria |
| Aciduria malonica (SNE) | Malonic aciduria (ENS) |
| Albinismo | Albinism |
| Alcaptonuria | Alkaptonuria |
| Cistinosi | Cystinosis |
| Cistinuria | Cystinuria |
| Deficit 2-metilbutiril CoA deidrogenasi (SNE) | 2-Methylbutyryl CoA dehydrogenase (ENS) deficiency |
| Deficit 3-metilcrotonil CoA carbossilasi (SNE) | 3-Methylcrotonyl CoA carboxylase (SNE) deficiency |
| Deficit Beta-C hetotiolasi (SNE) | Beta-C hetothiolase (ENS) deficiency |
| Deficit biosintesi cofattore biopterina (SNE) | Biopterin Cofactor (SNE) Biosynthesis Deficiency |
| Deficit isobutiril CoA deidrogenasi (SNE) | Isobutyryl CoA dehydrogenase (ENS) deficiency |
| Deficit multiplo carbossilasi (SNE) | Multiple Carboxylase Deficiency (ENS) |
| Deficit piruvato carbossilasi (SNE) | Pyruvate carboxylase (ENS) deficiency |
| Deficit rigenerazione cofattore biopterina (SNE) | Biopterin Cofactor Regeneration (ENS) Deficiency |
| Encefalopatia etilmalonica (SNE) | Ethylmalonic encephalopathy (ENS) |
| Fanconi sindrome renale | Fanconi renal syndrome |
| Fenilchetonuria (SNE) | Phenylketonuria (ENS) |
| Hartnup malattia di | Hartnup's disease |
| Iminoacidemia | Iminoacidemia |
| Intolleranza alle proteine con lisinuria | Protein intolerance with lysinuria |
| Iper-Beta-Alaninemia | Hyper-Beta-Alaninemia |
| Iperfenilalaninemia non PKU (benigna) (SNE) | Non-PKU (benign) hyperphenylalaninaemia (ENS) |
| Iperglicinemia non chetotica | Non-ketotic hyperglycinemia |
| Iperistidinemia | Hyperhistidinemia |
| Iperlisinemia | Hyperlysinemia |
| Ipermetioninemia (SNE) | Hypermethioninemia (ENS) |
| Iperprolinemia | Hyperprolinaemia |
| Ipervalinemia | Hypervalinemia |
| Malattia delle urine a sciroppo di acero (SNE) | Maple syrup urine disease (ENS) |
| Omocistinuria (Omocistinuria-deficit CBS, SNE) | Homocystinuria (Homocystinuria-deficiency CBS, ENS) |
| Ornitina aminotransferasi deficit di | Ornithine aminotransferase deficiency |
| Prolidasi deficit di | Prolidase deficiency |
| Sindrome da malassorbimento di metionina | Methionine malabsorption syndrome |
| Sindrome HHH (Iperornitinemia, Iperammonemia e Omocitrullinuria) | HHH Syndrome (Hyperornithinemia, Hyperammonemia and Homocitrullinuria) |
| Tirosinemia non tipizzata | Untyped tyrosinemia |
| Tirosinemia tipo I (SNE) | Type I tyrosinemia (ENS) |
| Tirosinemia tipo II (SNE) | Type II tyrosinemia (ENS) |
| Tirosinemia tipo III (SNE) | Type III tyrosinemia (ENS) |
| Acidemia argininosuccinica (SNE) | Argininosuccinic acidemia (ENS) |
| Argininemia (SNE) | Argininaemia (ENS) |
| Carbamil-fosfato-sintetasi (CPS) deficit di | Carbamyl phosphate synthetase (CPS) deficiency |
| Citrullinemia tipo I (SNE) | Type I citrullinemia (ENS) |
| Citrullinemia tipo II (SNE) | Citrullinemia type II (ENS) |
| N-acetil-glutammato-sintetasi (NAGS) deficit di | N-acetyl glutamate synthetase (NAGS) deficiency |
| Ornitina transcarbamilasi (OTC ) deficit di | Ornithine transcarbamylase (OTC ) deficiency |
| Aspartilglucosaminuria | Aspartylglucosaminuria |
| Deficit congenito di lattasi | Congenital lactase deficiency |
| Difetti del trasporto del glucosio | Glucose transport defects |
| Fruttosio-1,6 difosfatasi deficit di | Fructose-1,6 diphosphatase deficiency |
| Galattosemia | Galactosemia |
| Glicogenosi per deficit di fosforilasi chinasi | Glycogen storage disease due to phosphorylase kinase deficiency |
| Glicogenosi tipo 1 | Type 1 glycogen storage disease |
| Glicogenosi tipo 2 | Type 2 glycogen storage disease |
| Glicogenosi tipo 3 | Type 3 glycogen storage disease |
| Glicogenosi tipo 4 | Type 4 glycogen storage disease |
| Glicogenosi tipo 5 | Type 5 glycogen storage disease |
| Glicogenosi tipo 6 | Type 6 glycogen storage disease |
| Glicogenosi tipo 7 | Type 7 glycogen storage disease |
| Glicogenosi tipo 10 | Type 10 glycogen storage disease |
| Glicogenosi tipo 11 | Type 11 glycogen storage disease |
| Glicogenosi tipo 12 | Type 12 glycogen storage disease |
| Glicogenosi tipo 13 | Type 13 glycogen storage disease |
| Glicogeno-sintetasi deficit di | Glycogen synthetase deficiency |
| Intolleranza ereditaria al fruttosio | Hereditary fructose intolerance |
| Iperossaluria primaria | Primary hyperoxaluria |
| Malassorbimento di glucosio e galattosio | Malabsorption of glucose and galactose |
| Malattia da corpi poliglucosani | Polyglucosan body disease |
| Saccarasi isomaltasi deficit di | Sucrase isomaltase deficiency |
| Iperinsulinismi congeniti | Congenital hyperinsulinisms |
| Abetalipoproteinemia | Abetalipoproteinemia |
| Beta ossidazione deficit di | Beta oxidation deficiency |
| Carnitina muscolare deficit di | Muscle carnitine deficiency |
| Deficit familiare di lipasi lipoproteica | Familial lipoprotein lipase deficiency |
| Ipercolesterolemia familiare omozigote | Homozygous familial hypercholesterolaemia |
| Ipertrigliceridemia familiare | Familial hypertriglyceridemia |
| Ipoalfalipoproteinemia familiare | Familial hypoalphalipoproteinemia |
| Ipobetalipoproteinemia familiare | Familial hypobetalipoproteinemia |
| Lecitina-Colesterolo-Aciltransferasi deficit di | Lecithin-cholesterol-acyltransferase deficiency |
| Tangier malattia di | Tangier's disease |
| Difetti congeniti della sintesi del colesterolo | Congenital defects of cholesterol synthesis |
| Smith-Lemli-Opitz sindrome di | Smith-Lemli-Opitz syndrome |
| CoA ligasi degli acidi biliari deficit di | CoA ligase bile acid deficiency |
| Difetto congenito della sintesi degli acidi biliari tipo 1 | Congenital defect of bile acid synthesis type 1 |
| Difetto congenito della sintesi degli acidi biliari tipo 2 | Congenital defect of bile acid synthesis type 2 |
| Difetto congenito della sintesi degli acidi biliari tipo 3 | Congenital defect of bile acid synthesis type 3 |
| Difetto congenito della sintesi degli acidi biliari tipo 4 | Congenital defect of bile acid synthesis type 4 |
| Ipercolanemia familiare | familial hypercholanemia |
| Xantomatosi cerebrotendinea | Cerebrotendinous xanthomatosis |
| Sindrome PHARC | PHARC syndrome |
| Lipodistrofia totale | Total lipodystrophy |
| Dercum malattia di | Dercum's disease |
| Malattie perossisomiali | Peroxisomal diseases |
| Acidemia pipecolica | Pipecolic acidemia |
| Condrodisplasia punctata rizomelica | Rhizomelic chondrodysplasia punctata |
| Adrenoleucodistrofia | Adrenoleukodystrophy |
| Zellweger sindrome di | Zellweger syndrome |
| Dopamina beta-idrossilasi deficit di | Dopamine beta-hydroxylase deficiency |
| Iperekplexia ereditaria | Hereditary hyperekplexia |
| Coproporfiria ereditaria | Hereditary coproporphyria |
| Porfiria acuta intermittente | Acute intermittent porphyria |
| Porfiria cutanea tarda | Porphyria Cutanea Tarda |
| Porfiria da deficit di ALAD | ALAD-deficiency porphyria |
| Porfiria eritropoietica congenita | Congenital erythropoietic porphyria |
| Porfiria eritropoietica epatica | Hepatic erythropoietic porphyria |
| Porfiria variegata | variegated porphyria |
| Protoporfiria eritropoietica | Erythropoietic protoporphyria |
| Adenilsuccinasi deficit di | Adenylsuccinase deficiency |
| Adenina-fosforibosil-transferasi deficit di | Adenine phosphoribosyl transferase deficiency |
| Diidropirimidina deidrogenasi deficit di | Dihydropyrimidine dehydrogenase deficiency |
| Lesch-Nyhan malattia di | Lesch-Nyhan disease |
| Oroticoaciduria | Orotic aciduria |
| Xantinuria | Xanthinuria |
| Ipofosfatasia | Hypophosphatasia |
| Calcinosi tumorale | Tumor calcinosis |
| Acidemia glutarica tipo II (SNE) | Type II glutaric acidemia (ENS) |
| Deficit 3-idrossiacil CoA deidrogenasi a catena media-corta (SNE) | Medium-short chain 3-hydroxyacyl CoA dehydrogenase (SNE) deficiency |
| Deficit carnitina-acilcarnitinatranslocasi (SNE) | Carnitine-acylcarnitine translocase (ENS) deficiency |
| Deficit chetoacil CoA deidrogenasi a catena media (SNE) | Medium Chain Ketoacyl CoA Dehydrogenase (ENS) Deficiency |
| Deficit del trasporto carnitina (SNE) | Carnitine transport deficiency (ENS) |
| Deficit di acil-CoA deidrogenasi a catena corta, SCAD (SNE) | Short-chain acyl-CoA dehydrogenase deficiency, SCAD (SNE) |
| Deficit di acil-CoA deidrogenasi a catena media, MCAD (SNE) | Medium-chain acyl-CoA dehydrogenase, MCAD (SNE) deficiency |
| Deficit di carnitina palmitoil-transferasi (SNE) | Carnitine palmitoyl transferase (ENS) deficiency |
| Deficit di carnitina palmitoil-transferasi II (SNE) | Carnitine palmitoyl transferase II (ENS) deficiency |
| Deficit di carnitina palmitoil-transferasi non tipizzato | Carnitine palmitoyl transferase deficiency not typed |
| Deficit dienoil reduttasi (SNE) | Dienoyl reductase (SNE) deficiency |
| Deficit idrossiacilC oA deidrogenasi a catena lunga, LCAD (SNE) | Long-chain hydroxyacylC oA dehydrogenase deficiency, LCAD (SNE) |
| Deficit idrossiacilC oA deidrogenasi a catena molto lunga, VLC AD (SNE) | Very long chain hydroxyacylC oA dehydrogenase deficiency, VLC AD (ENS) |
| Deficit proteina trifunzionale (SNE) | Trifunctional protein deficiency (ENS) |
| Difetti congeniti della chetogenesi e della chetolisi | Congenital defects of ketogenesis and ketolysis |
| Alfa metil acetoacetilC oA tiolasi deficit di | Alpha methyl acetoacetylC oA thiolase deficiency |
| Piruvato deidrogenasi fosfatasi deficit di | Pyruvate dehydrogenase phosphatase deficiency |
| Citocromo Cossidasi deficit di | Cytochrome Cossidase deficiency |
| Oftalmoplegia esterna progressiva | Progressive external ophthalmoplegia |
| Sindrome NARP | NARP syndrome |
| MELAS sindrome | MELAS syndrome |
| MERRF sindrome | MERRF syndrome |
| Atrofia ottica di Leber | Leber optic atrophy |
| Pearson sindrome di | Pearson syndrome |
| Alpers malattia di | Alpers disease |
| KearnsSayre sindrome di | Kearns Sayre syndrome |
| Deficit del coenzima Q10 | Coenzyme Q10 deficiency |
| Leigh malattia di | Leigh's disease |
| Sindromi da deficit congenito di creatina | Syndromes of congenital deficiency of creatine |
| Guanidinoacetato-metiltransferasi (GAMT) deficit di | Guanidinoacetate methyltransferase (GAMT) deficiency |
| Deficit congenito del trasportatore mitocondriale di aspartato-glutammato tipo 1 | Congenital deficiency of the mitochondrial aspartate-glutamate transporter type 1 |
| Difetti da accumulo di lipidi | Lipid storage defects |
| Chanarin-Dorfman malattia di | Chanarin-Dorfman disease |
| Esteri del colesterolo malattia da accumulo di | Cholesterol foreign storage disease |
| Fabry malattia di | Fabry disease |
| Gaucher malattia di | Gaucher's disease |
| NiemannPick malattia di | NiemannPick's disease |
| Mucopolisaccaridosi | Mucopolysaccharidosis |
| Mucopolisaccaridosi non tipizzata | Untyped mucopolysaccharidosis |
| Mucopolisaccaridosi tipo 1 | Mucopolysaccharidosis type 1 |
| Mucopolisaccaridosi tipo 2 | Mucopolysaccharidosis type 2 |
| Mucopolisaccaridosi tipo 3 | Mucopolysaccharidosis type 3 |
| Mucopolisaccaridosi tipo 4 | Mucopolysaccharidosis type 4 |
| Mucopolisaccaridosi tipo 6 | Mucopolysaccharidosis type 6 |
| Mucopolisaccaridosi tipo 7 | Mucopolysaccharidosis type 7 |
| Mucopolisaccaridosi tipo 9 | Mucopolysaccharidosis type 9 |
| Mucolipidosi | Mucolipidosis |
| Mucolipidosi tipo 2 | Mucolipidosis type 2 |
| Mucolipidosi tipo 3 | Mucolipidosis type 3 |
| Mucolipidosi tipo 4 | Mucolipidosis type 4 |
| Oligosaccaridosi | Oligosaccharidosis |
| Fucosidosi | Fucosidosis |
| Galattosialidosi | Galactosialidosis |
| Malattia da accumulo di acido sialico | Sialic acid storage disease |
| Mannosidosi | Mannosidosis |
| Schindler malattia di | Schindler's disease |
| Sialidosi | Sialidosis |
| Gangliosidosi | Gangliosidosis |
| Gangliosidosi-GM1 | Gangliosidosis-GM1 |
| Gangliosidosi-GM2 | Gangliosidosis-GM2 |
| Ceroido-lipofuscinosi | Ceroid lipofuscinosis |
| Altre malattie da accumulo lisosomiale | Other lysosomal storage diseases |
| Austin sindrome di | Austin syndrome |
| Wolman malattia di | Wolman's disease |
| Farber malattia di | Farber's disease |
| Difetti congeniti responsivi alla biotina | Congenital defects responsive to biotin |
| Cobalamina C deficit congenito di | Cobalamin C congenital deficiency |
| Rachitismo vitamina D dipendente tipo 1 | Vitamin D dependent rickets type 1 |
| Rachitismo ipofosfatemico vitamina D resistente | Vitamin D resistant hypophosphatemic rickets |
| 5-piridossamina fosfato ossidasi deficit di | 5-pyridoxamine phosphate oxidase deficiency |
| DMT1 deficit di | DMT1 deficiency |
| Emocromatosi ereditaria non determinata | Undetermined hereditary hemochromatosis |
| Emocromatosi ereditaria tipo 1 | Hereditary hemochromatosis type 1 |
| Emocromatosi ereditaria tipo 2A | Hereditary hemochromatosis type 2A |
| Emocromatosi ereditaria tipo 2B | Hereditary hemochromatosis type 2B |
| Emocromatosi ereditaria tipo 3 | Hereditary hemochromatosis type 3 |
| Emocromatosi ereditaria tipo 4 | Hereditary hemochromatosis type 4 |
| IRIDA (Iron Refractory Iron Deficiency Anemia) | IRIDA (Iron Refractory Iron Deficiency Anemia) |
| Sindrome iperferritinemia-cataratta | Hyperferritinemia-cataract syndrome |
| Aceruloplasminemia congenita | Congenital aceruloplasminemia |
| Atransferrinemia congenita | Congenital atransferrinemia |
| Difetti congeniti del metabolismo e del trasporto dello zinco | Congenital defects of zinc metabolism and transport |
| Deficienza congenita di zinco | Congenital zinc deficiency |
| Difetti congeniti del metabolismo del rame | Congenital defects of copper metabolism |
| Menkes sindrome di | Menkes syndrome |
| Wilson malattia di | Wilson's disease |
| Ipomagnesemia ereditaria primitiva | Primary hereditary hypomagnesaemia |
| Amiloidosi sistemiche | Systemic amyloidosis |
| Crigler-Najjar sindrome di | Crigler-Najjar syndrome |
Articoli su onlinelibrary.wiley.com inerenti le malattie rare del metabolismo
Ascolta
| Acidemia glutarica non tipizzata | Untyped glutaric acidemia |
| Acidemia glutarica tipo I (SNE) | Type I glutaric acidemia (ENS) |
| Acidemia isovalerica (SNE) | Isovaleric acidemia (ENS) |
| Acidemia metilmalonica CbIA, CbIB (SNE) | Methylmalonic acidemia CbIA, CbIB (ENS) |
| Acidemia metilmalonica non tipizzata | Untyped methylmalonic acidemia |
| Acidemia metilmalonica, CbIC , CbID (SNE) | Methylmalonic acidemia, CbIC , CbID (SNE) |
| Acidemia metilmalonica, mutasi (SNE) | Methylmalonic acidemia, mutase (EMS) |
| Acidemia propionica (SNE) | Propionic acidemia (ENS) |
| Acidemie organiche e acidosi lattiche primitive | Organic acidemias and primary lactic acidosis |
| Aciduria 2-metil 3-idrossibutirrico (SNE) | 2-Methyl 3-Hydroxybutyric aciduria (SNE) |
| Aciduria 3-idrossi 3-metilglutarica (SNE) | 3-Hydroxy 3-methylglutaric aciduria (ENS) |
| Aciduria 3-metilglutaconica (SNE) | 3-methylglutaconic aciduria (ENS) |
| Aciduria idrossiglutarica | Hydroxyglutaric aciduria |
| Aciduria malonica (SNE) | Malonic aciduria (ENS) |
| Albinismo | Albinism |
| Alcaptonuria | Alkaptonuria |
| Cistinosi | Cystinosis |
| Cistinuria | Cystinuria |
| Deficit 2-metilbutiril CoA deidrogenasi (SNE) | 2-Methylbutyryl CoA dehydrogenase (ENS) deficiency |
| Deficit 3-metilcrotonil CoA carbossilasi (SNE) | 3-Methylcrotonyl CoA carboxylase (SNE) deficiency |
| Deficit Beta-C hetotiolasi (SNE) | Beta-C hetothiolase (ENS) deficiency |
| Deficit biosintesi cofattore biopterina (SNE) | Biopterin Cofactor (SNE) Biosynthesis Deficiency |
| Deficit isobutiril CoA deidrogenasi (SNE) | Isobutyryl CoA dehydrogenase (ENS) deficiency |
| Deficit multiplo carbossilasi (SNE) | Multiple Carboxylase Deficiency (ENS) |
| Deficit piruvato carbossilasi (SNE) | Pyruvate carboxylase (ENS) deficiency |
| Deficit rigenerazione cofattore biopterina (SNE) | Biopterin Cofactor Regeneration (ENS) Deficiency |
| Encefalopatia etilmalonica (SNE) | Ethylmalonic encephalopathy (ENS) |
| Fanconi sindrome renale | Fanconi renal syndrome |
| Fenilchetonuria (SNE) | Phenylketonuria (ENS) |
| Hartnup malattia di | Hartnup's disease |
| Iminoacidemia | Iminoacidemia |
| Intolleranza alle proteine con lisinuria | Protein intolerance with lysinuria |
| Iper-Beta-Alaninemia | Hyper-Beta-Alaninemia |
| Iperfenilalaninemia non PKU (benigna) (SNE) | Non-PKU (benign) hyperphenylalaninaemia (ENS) |
| Iperglicinemia non chetotica | Non-ketotic hyperglycinemia |
| Iperistidinemia | Hyperhistidinemia |
| Iperlisinemia | Hyperlysinemia |
| Ipermetioninemia (SNE) | Hypermethioninemia (ENS) |
| Iperprolinemia | Hyperprolinaemia |
| Ipervalinemia | Hypervalinemia |
| Malattia delle urine a sciroppo di acero (SNE) | Maple syrup urine disease (ENS) |
| Omocistinuria (Omocistinuria-deficit CBS, SNE) | Homocystinuria (Homocystinuria-deficiency CBS, ENS) |
| Ornitina aminotransferasi deficit di | Ornithine aminotransferase deficiency |
| Prolidasi deficit di | Prolidase deficiency |
| Sindrome da malassorbimento di metionina | Methionine malabsorption syndrome |
| Sindrome HHH (Iperornitinemia, Iperammonemia e Omocitrullinuria) | HHH Syndrome (Hyperornithinemia, Hyperammonemia and Homocitrullinuria) |
| Tirosinemia non tipizzata | Untyped tyrosinemia |
| Tirosinemia tipo I (SNE) | Type I tyrosinemia (ENS) |
| Tirosinemia tipo II (SNE) | Type II tyrosinemia (ENS) |
| Tirosinemia tipo III (SNE) | Type III tyrosinemia (ENS) |
| Acidemia argininosuccinica (SNE) | Argininosuccinic acidemia (ENS) |
| Argininemia (SNE) | Argininaemia (ENS) |
| Carbamil-fosfato-sintetasi (CPS) deficit di | Carbamyl phosphate synthetase (CPS) deficiency |
| Citrullinemia tipo I (SNE) | Type I citrullinemia (ENS) |
| Citrullinemia tipo II (SNE) | Citrullinemia type II (ENS) |
| N-acetil-glutammato-sintetasi (NAGS) deficit di | N-acetyl glutamate synthetase (NAGS) deficiency |
| Ornitina transcarbamilasi (OTC ) deficit di | Ornithine transcarbamylase (OTC ) deficiency |
| Aspartilglucosaminuria | Aspartylglucosaminuria |
| Deficit congenito di lattasi | Congenital lactase deficiency |
| Difetti del trasporto del glucosio | Glucose transport defects |
| Fruttosio-1,6 difosfatasi deficit di | Fructose-1,6 diphosphatase deficiency |
| Galattosemia | Galactosemia |
| Glicogenosi per deficit di fosforilasi chinasi | Glycogen storage disease due to phosphorylase kinase deficiency |
| Glicogenosi tipo 1 | Type 1 glycogen storage disease |
| Glicogenosi tipo 2 | Type 2 glycogen storage disease |
| Glicogenosi tipo 3 | Type 3 glycogen storage disease |
| Glicogenosi tipo 4 | Type 4 glycogen storage disease |
| Glicogenosi tipo 5 | Type 5 glycogen storage disease |
| Glicogenosi tipo 6 | Type 6 glycogen storage disease |
| Glicogenosi tipo 7 | Type 7 glycogen storage disease |
| Glicogenosi tipo 10 | Type 10 glycogen storage disease |
| Glicogenosi tipo 11 | Type 11 glycogen storage disease |
| Glicogenosi tipo 12 | Type 12 glycogen storage disease |
| Glicogenosi tipo 13 | Type 13 glycogen storage disease |
| Glicogeno-sintetasi deficit di | Glycogen synthetase deficiency |
| Intolleranza ereditaria al fruttosio | Hereditary fructose intolerance |
| Iperossaluria primaria | Primary hyperoxaluria |
| Malassorbimento di glucosio e galattosio | Malabsorption of glucose and galactose |
| Malattia da corpi poliglucosani | Polyglucosan body disease |
| Saccarasi isomaltasi deficit di | Sucrase isomaltase deficiency |
| Iperinsulinismi congeniti | Congenital hyperinsulinisms |
| Abetalipoproteinemia | Abetalipoproteinemia |
| Beta ossidazione deficit di | Beta oxidation deficiency |
| Carnitina muscolare deficit di | Muscle carnitine deficiency |
| Deficit familiare di lipasi lipoproteica | Familial lipoprotein lipase deficiency |
| Ipercolesterolemia familiare omozigote | Homozygous familial hypercholesterolaemia |
| Ipertrigliceridemia familiare | Familial hypertriglyceridemia |
| Ipoalfalipoproteinemia familiare | Familial hypoalphalipoproteinemia |
| Ipobetalipoproteinemia familiare | Familial hypobetalipoproteinemia |
| Lecitina-Colesterolo-Aciltransferasi deficit di | Lecithin-cholesterol-acyltransferase deficiency |
| Tangier malattia di | Tangier's disease |
| Difetti congeniti della sintesi del colesterolo | Congenital defects of cholesterol synthesis |
| Smith-Lemli-Opitz sindrome di | Smith-Lemli-Opitz syndrome |
| CoA ligasi degli acidi biliari deficit di | CoA ligase bile acid deficiency |
| Difetto congenito della sintesi degli acidi biliari tipo 1 | Congenital defect of bile acid synthesis type 1 |
| Difetto congenito della sintesi degli acidi biliari tipo 2 | Congenital defect of bile acid synthesis type 2 |
| Difetto congenito della sintesi degli acidi biliari tipo 3 | Congenital defect of bile acid synthesis type 3 |
| Difetto congenito della sintesi degli acidi biliari tipo 4 | Congenital defect of bile acid synthesis type 4 |
| Ipercolanemia familiare | familial hypercholanemia |
| Xantomatosi cerebrotendinea | Cerebrotendinous xanthomatosis |
| Sindrome PHARC | PHARC syndrome |
| Lipodistrofia totale | Total lipodystrophy |
| Dercum malattia di | Dercum's disease |
| Malattie perossisomiali | Peroxisomal diseases |
| Acidemia pipecolica | Pipecolic acidemia |
| Condrodisplasia punctata rizomelica | Rhizomelic chondrodysplasia punctata |
| Adrenoleucodistrofia | Adrenoleukodystrophy |
| Zellweger sindrome di | Zellweger syndrome |
| Dopamina beta-idrossilasi deficit di | Dopamine beta-hydroxylase deficiency |
| Iperekplexia ereditaria | Hereditary hyperekplexia |
| Coproporfiria ereditaria | Hereditary coproporphyria |
| Porfiria acuta intermittente | Acute intermittent porphyria |
| Porfiria cutanea tarda | Porphyria Cutanea Tarda |
| Porfiria da deficit di ALAD | ALAD-deficiency porphyria |
| Porfiria eritropoietica congenita | Congenital erythropoietic porphyria |
| Porfiria eritropoietica epatica | Hepatic erythropoietic porphyria |
| Porfiria variegata | variegated porphyria |
| Protoporfiria eritropoietica | Erythropoietic protoporphyria |
| Adenilsuccinasi deficit di | Adenylsuccinase deficiency |
| Adenina-fosforibosil-transferasi deficit di | Adenine phosphoribosyl transferase deficiency |
| Diidropirimidina deidrogenasi deficit di | Dihydropyrimidine dehydrogenase deficiency |
| Lesch-Nyhan malattia di | Lesch-Nyhan disease |
| Oroticoaciduria | Orotic aciduria |
| Xantinuria | Xanthinuria |
| Ipofosfatasia | Hypophosphatasia |
| Calcinosi tumorale | Tumor calcinosis |
| Acidemia glutarica tipo II (SNE) | Type II glutaric acidemia (ENS) |
| Deficit 3-idrossiacil CoA deidrogenasi a catena media-corta (SNE) | Medium-short chain 3-hydroxyacyl CoA dehydrogenase (SNE) deficiency |
| Deficit carnitina-acilcarnitinatranslocasi (SNE) | Carnitine-acylcarnitine translocase (ENS) deficiency |
| Deficit chetoacil CoA deidrogenasi a catena media (SNE) | Medium Chain Ketoacyl CoA Dehydrogenase (ENS) Deficiency |
| Deficit del trasporto carnitina (SNE) | Carnitine transport deficiency (ENS) |
| Deficit di acil-CoA deidrogenasi a catena corta, SCAD (SNE) | Short-chain acyl-CoA dehydrogenase deficiency, SCAD (SNE) |
| Deficit di acil-CoA deidrogenasi a catena media, MCAD (SNE) | Medium-chain acyl-CoA dehydrogenase, MCAD (SNE) deficiency |
| Deficit di carnitina palmitoil-transferasi (SNE) | Carnitine palmitoyl transferase (ENS) deficiency |
| Deficit di carnitina palmitoil-transferasi II (SNE) | Carnitine palmitoyl transferase II (ENS) deficiency |
| Deficit di carnitina palmitoil-transferasi non tipizzato | Carnitine palmitoyl transferase deficiency not typed |
| Deficit dienoil reduttasi (SNE) | Dienoyl reductase (SNE) deficiency |
| Deficit idrossiacilC oA deidrogenasi a catena lunga, LCAD (SNE) | Long-chain hydroxyacylC oA dehydrogenase deficiency, LCAD (SNE) |
| Deficit idrossiacilC oA deidrogenasi a catena molto lunga, VLC AD (SNE) | Very long chain hydroxyacylC oA dehydrogenase deficiency, VLC AD (ENS) |
| Deficit proteina trifunzionale (SNE) | Trifunctional protein deficiency (ENS) |
| Difetti congeniti della chetogenesi e della chetolisi | Congenital defects of ketogenesis and ketolysis |
| Alfa metil acetoacetilC oA tiolasi deficit di | Alpha methyl acetoacetylC oA thiolase deficiency |
| Piruvato deidrogenasi fosfatasi deficit di | Pyruvate dehydrogenase phosphatase deficiency |
| Citocromo Cossidasi deficit di | Cytochrome Cossidase deficiency |
| Oftalmoplegia esterna progressiva | Progressive external ophthalmoplegia |
| Sindrome NARP | NARP syndrome |
| MELAS sindrome | MELAS syndrome |
| MERRF sindrome | MERRF syndrome |
| Atrofia ottica di Leber | Leber optic atrophy |
| Pearson sindrome di | Pearson syndrome |
| Alpers malattia di | Alpers disease |
| KearnsSayre sindrome di | Kearns Sayre syndrome |
| Deficit del coenzima Q10 | Coenzyme Q10 deficiency |
| Leigh malattia di | Leigh's disease |
| Sindromi da deficit congenito di creatina | Syndromes of congenital deficiency of creatine |
| Guanidinoacetato-metiltransferasi (GAMT) deficit di | Guanidinoacetate methyltransferase (GAMT) deficiency |
| Deficit congenito del trasportatore mitocondriale di aspartato-glutammato tipo 1 | Congenital deficiency of the mitochondrial aspartate-glutamate transporter type 1 |
| Difetti da accumulo di lipidi | Lipid storage defects |
| Chanarin-Dorfman malattia di | Chanarin-Dorfman disease |
| Esteri del colesterolo malattia da accumulo di | Cholesterol foreign storage disease |
| Fabry malattia di | Fabry disease |
| Gaucher malattia di | Gaucher's disease |
| NiemannPick malattia di | NiemannPick's disease |
| Mucopolisaccaridosi | Mucopolysaccharidosis |
| Mucopolisaccaridosi non tipizzata | Untyped mucopolysaccharidosis |
| Mucopolisaccaridosi tipo 1 | Mucopolysaccharidosis type 1 |
| Mucopolisaccaridosi tipo 2 | Mucopolysaccharidosis type 2 |
| Mucopolisaccaridosi tipo 3 | Mucopolysaccharidosis type 3 |
| Mucopolisaccaridosi tipo 4 | Mucopolysaccharidosis type 4 |
| Mucopolisaccaridosi tipo 6 | Mucopolysaccharidosis type 6 |
| Mucopolisaccaridosi tipo 7 | Mucopolysaccharidosis type 7 |
| Mucopolisaccaridosi tipo 9 | Mucopolysaccharidosis type 9 |
| Mucolipidosi | Mucolipidosis |
| Mucolipidosi tipo 2 | Mucolipidosis type 2 |
| Mucolipidosi tipo 3 | Mucolipidosis type 3 |
| Mucolipidosi tipo 4 | Mucolipidosis type 4 |
| Oligosaccaridosi | Oligosaccharidosis |
| Fucosidosi | Fucosidosis |
| Galattosialidosi | Galactosialidosis |
| Malattia da accumulo di acido sialico | Sialic acid storage disease |
| Mannosidosi | Mannosidosis |
| Schindler malattia di | Schindler's disease |
| Sialidosi | Sialidosis |
| Gangliosidosi | Gangliosidosis |
| Gangliosidosi-GM1 | Gangliosidosis-GM1 |
| Gangliosidosi-GM2 | Gangliosidosis-GM2 |
| Ceroido-lipofuscinosi | Ceroid lipofuscinosis |
| Altre malattie da accumulo lisosomiale | Other lysosomal storage diseases |
| Austin sindrome di | Austin syndrome |
| Wolman malattia di | Wolman's disease |
| Farber malattia di | Farber's disease |
| Difetti congeniti responsivi alla biotina | Congenital defects responsive to biotin |
| Cobalamina C deficit congenito di | Cobalamin C congenital deficiency |
| Rachitismo vitamina D dipendente tipo 1 | Vitamin D dependent rickets type 1 |
| Rachitismo ipofosfatemico vitamina D resistente | Vitamin D resistant hypophosphatemic rickets |
| 5-piridossamina fosfato ossidasi deficit di | 5-pyridoxamine phosphate oxidase deficiency |
| DMT1 deficit di | DMT1 deficiency |
| Emocromatosi ereditaria non determinata | Undetermined hereditary hemochromatosis |
| Emocromatosi ereditaria tipo 1 | Hereditary hemochromatosis type 1 |
| Emocromatosi ereditaria tipo 2A | Hereditary hemochromatosis type 2A |
| Emocromatosi ereditaria tipo 2B | Hereditary hemochromatosis type 2B |
| Emocromatosi ereditaria tipo 3 | Hereditary hemochromatosis type 3 |
| Emocromatosi ereditaria tipo 4 | Hereditary hemochromatosis type 4 |
| IRIDA (Iron Refractory Iron Deficiency Anemia) | IRIDA (Iron Refractory Iron Deficiency Anemia) |
| Sindrome iperferritinemia-cataratta | Hyperferritinemia-cataract syndrome |
| Aceruloplasminemia congenita | Congenital aceruloplasminemia |
| Atransferrinemia congenita | Congenital atransferrinemia |
| Difetti congeniti del metabolismo e del trasporto dello zinco | Congenital defects of zinc metabolism and transport |
| Deficienza congenita di zinco | Congenital zinc deficiency |
| Difetti congeniti del metabolismo del rame | Congenital defects of copper metabolism |
| Menkes sindrome di | Menkes syndrome |
| Wilson malattia di | Wilson's disease |
| Ipomagnesemia ereditaria primitiva | Primary hereditary hypomagnesaemia |
| Amiloidosi sistemiche | Systemic amyloidosis |
| Crigler-Najjar sindrome di | Crigler-Najjar syndrome |