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Articoli su onlinelibrary.wiley.com inerenti le malattie rare del metabolismo

6-feb-2023

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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