SE-ATLAS

Mucopolysaccharidosis type 2, attenuated form Vitamin B12-unresponsive methylmalonic acidemia Isovaleric acidemia Neonatal adrenoleukodystrophy Glycogen storage disease due to aldolase A deficiency X-linked cerebral adrenoleukodystrophy Mucopolysaccharidosis type 4A Carnitine palmitoyltransferase II deficiency Short chain acyl-CoA dehydrogenase deficiency Carnitine-acylcarnitine translocase deficiency Glycogen storage disease due to hepatic glycogen synthase deficiency Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency Acyl-CoA dehydrogenase 9 deficiency Transaldolase deficiency 3-methylglutaconic aciduria type 7 Methylmalonic aciduria due to transcobalamin receptor defect Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 3 Vitamin B12-unresponsive methylmalonic acidemia type mut0 3-methylcrotonyl-CoA carboxylase deficiency Fatal infantile lactic acidosis with methylmalonic aciduria 3-hydroxy-3-methylglutaric aciduria Vitamin B12-responsive methylmalonic acidemia Propionic acidemia Medium chain acyl-CoA dehydrogenase deficiency X-linked adrenoleukodystrophy Barth syndrome Adrenomyeloneuropathy Beta-ketothiolase deficiency Multiple carboxylase deficiency Carnitine palmitoyl transferase 1A deficiency Systemic primary carnitine deficiency Metaphyseal chondrodysplasia, Schmid type Ollier disease Bifunctional enzyme deficiency Fructose-1,6-bisphosphatase deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogen storage disease due to acid maltase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Hereditary fructose intolerance Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency McCune-Albright syndrome Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 7 Polyglucosan body myopathy type 1 Autosomal recessive malignant osteopetrosis Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Metaphyseal anadysplasia Osteomesopyknosis Essential fructosuria Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Dilated cardiomyopathy with ataxia Pyruvate dehydrogenase E1-beta deficiency Intermediate osteopetrosis Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Osteopetrosis with renal tubular acidosis Metaphyseal acroscyphodysplasia Endosteal hyperostosis, Worth type Disorder of fructose metabolism Disorder of branched-chain amino acid metabolism Fanconi-Bickel syndrome Classic galactosemia Biotinidase deficiency Pentosuria 3-hydroxy-3-methylglutaryl-CoA synthase deficiency Pyruvate dehydrogenase E2 deficiency Pyruvate dehydrogenase phosphatase deficiency Sanfilippo syndrome type C Sanfilippo syndrome type B Primary hyperoxaluria type 2 Sanfilippo syndrome type D Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Hyaluronidase deficiency Chronic diarrhea due to glucoamylase deficiency 3-methylglutaconic aciduria type 3 3-methylglutaconic aciduria type 1 Glycogen storage disease due to muscle beta-enolase deficiency Pyle-Krankheit Pyruvat-Carboxylase-Mangel Hyperinsulinismus durch Kurzketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel Mukopolysaccharidose Typ 4B Polyglucosan-Körper-Myopatie Typ 2 Glykogenose durch LAMP-2-Mangel Ahornsirup-Krankheit, intermediäre Glykogenose durch Phosphoglycerat-Mutase-Mangel Acyl-CoA-Dehydrogenase-Mangel, multipler Renale Glukosurie, familiäre Maffucci-Syndrom Sehr langkettige-Acyl-CoA-Dehydrogenase-Mangel Osteopetrose-Hypogammaglobulinämie-Syndrom Metachondromatose Chondrodysplasie, metaphysäre, Typ Spahr Entwicklungsverzögerung durch Methylmalonat-Semialdehyd-Dehydrogenase-Mangel Neurodegeneration durch 3-Hydroxyisobutyryl-CoA-Hydrolase-Mangel Knochendysplasie, fibröse polyostotische Scheie-Syndrom Langketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel Methylmalonazidämie mit Homocystinurie Knochendysplasie, fibröse Chondrodysplasie, metaphysäre, Typ Jansen Osteochondrome, multiple Galaktosämie Glykogenose Typ 3 Glykogenose Typ 5 Glykogenose durch Phosphorylase-Kinase-Mangel Glykogenose Typ 7 Glycerol-Kinase-Mangel, isolierter Hyperoxalurie, primäre Ahornsirup-Krankheit Mukopolysaccharidose Typ 6 Glykogenose durch muskulären Phosphorylasekinase-Mangel Pyruvat-Dehydrogenase-Mangel Succinyl-CoA:3-Ketosäure-CoA-Transferase-Mangel 3-Hydroxy-Isobuttersäure-Krankheit D-Glycerat-Kinase-Mangel Galaktose-Stoffwechselstörung Camurati-Engelmann-Syndrom 2-Methylbutyryl-CoA-Dehydrogenase-Mangel Isobutyryl-CoA-Dehydrogenasemangel Fettsäureoxidationsstörungen und Ketogenesedefekt Glukoneogenese-Störung Glukosetransport-Störung Glykogenose Typ 2, infantile Form Ketokörper-Stoffwechselstörung Pentosephosphat-Stoffwechselstörung Peroxisomale beta-Oxidationsstörung Glykogenose Mukopolysaccharidose Galaktokinase-Mangel Galaktose-Epimerase-Mangel Glykogenose Typ 4, progressive hepatische Form Pyruvat-Dehydrogenase E1-alpha-Mangel Glykogenose Typ 1b Glykogenose Typ 4, nonprogressive hepatische Form Glykogenose Typ 1a Sanfilippo-Krankheit Typ A Glykogenose durch Glykogen-Branching-Enzym-Mangel, fatale perinatale neuromuskuläre Form Methylmalonazidämie, Vitamin-B12-sensible, Typ cblB Methylmalonazidämie, Vitamin B12-sensible, Typ cblA Methylmalonazidämie, Vitamin B12-resistente, Typ mut- 3-Methylglutaconazidurie Typ 4 Dysplasie, kraniodiaphysäre Glykogenose durch Glykogen-Branching-Enzym-Mangel, adulte neuromuskuläre Form Knochenzyste, solitäre Polyglukosankörper-Krankheit, adulte Ahornsirup-Krankheit, intermittierende Ahornsirup-Krankheit, Thiamin-responsive Cole-Carpenter-Syndrom Hyperostose, isolierte sternokostoklavikuläre X-chromosomale Hyperostose der Schädelkalotte Saccharase-Isomaltase-Mangel, kongenitaler Glykogen-Speicherkrankheit durch Laktat-Dehydrogenase-Mangel Pyruvat-Dehydrogenase E3-Mangel Glykogenose durch Leberphosphorylasekinasemangel Melorheostose Osteopetrose Osteopetrose, autosomal-dominante, Typ 1 Phosphoenolpyruvat-Carboxykinase-Mangel Glukose-Galaktose-Malabsorption Transcobalamin I-Mangel Sklerosteose Monostotische fibröse Dysplasie Dysplasie, metaphysäre, Typ Braun-Tinschert Genochondromatose Typ 1 Hurler-Syndrom Hurler-Scheie-Syndrom Hyperostosis corticalis generalisata Hyperoxalurie, primäre, Typ 1 Hyperoxalurie, primäre, Typ 3 Kondensierende Ostitis der medialen Klavikula Mukopolysaccharidose Typ 2, schwere Form Mazabraud-Syndrom Hyperostosis cranialis interna Glykogenose durch muskulären Glykogensythasemangel Stewart-Morel-Morgagni-Syndrom Knorpel-Haar-Hypoplasie Femurkopfdysplasie Typ Meyer Galaktose-Mutarotase-Mangel Atelosteogenesis Typ I Klassisches Glukosetransporter-Typ-1-Mangel-Syndrom Dysplasie, epiphysäre multiple, Typ Lowry Chondrodysplasie, metaphysäre, Typ Kaitila Dysplastische kortikale Hyperostose Typ Kozlowski-Tsuruta Osteochondrodysplasie, komplexe letale Omodysplasie Stüve-Wiedemann-Syndrom Omodysplasie, autosomal-rezessive Form Omodysplasie, autosomal-dominante Form Multiple Synostosen Dysplasie, mesomele, Typ Savarirayan Dysplasie, pseudodiastrophische Dysplasie, gnatho-diaphysäre Dysplasie, osteosklerotische metaphysäre Dysplasie, akromesomele, Typ Hunter-Thompson 3-Methylglutaconazidurie Typ 8 Acidurie 3-méthylglutaconique type 9 Déficit en tréhalase Dysplasie cranio-métaphysaire Chondrodysplasie létale de Blomstrand Dysplasie kyphomélique Dysplasie mésomélique type Kantaputra Dysplasie acro-capito-fémorale Ostéopoecilie isolée Odontochondrodysplasie Déficit en ribose-5-phosphate isomerase Déficit en acyl-CoA oxydase Pycnoachondrogenèse Atélostéogenèse type III Dysplasie de Singleton-Merten Génochondromatose type 2 Déficit en protéine trifonctionnelle mitochondriale Pycnodysostose Syndrome de Schwartz-Jampel Kyste osseux anévrysmal Syndrome de Desbuquois Dysostéosclérose Dysostose type Stanescu Syndrome de Bruck Maladie d'Upington Malabsorption héréditaire de l'acide folique