SE-ATLAS

Mucopolysaccharidosis type 1 Mucopolysaccharidosis type 2 Mucopolysaccharidosis type 3 Mucopolysaccharidosis type 4 Mucopolysaccharidosis type 6 Mucopolysaccharidosis type 7 Fabry disease Alpha-mannosidosis Wolman disease GM1 gangliosidosis Gaucher disease Glycogen storage disease due to acid maltase deficiency Infantile neurovisceral acid sphingomyelinase deficiency GM2 gangliosidosis Chronic visceral acid sphingomyelinase deficiency Niemann-Pick disease type C, severe perinatal form Niemann-Pick disease type C, juvenile neurologic onset Beta-mannosidosis Niemann-Pick disease type C, adult neurologic onset Mucopolysaccharidosis type 2, attenuated form Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome Sialidosis Mucopolysaccharidosis type 4B Mucolipidosis type II Alpha-N-acetylgalactosaminidase deficiency Mucolipidosis type III Mucolipidosis type IV Tyrosinemia type 3 Classic glucose transporter type 1 deficiency syndrome Niemann-Pick disease type C Sandhoff disease Hurler syndrome Scheie syndrome Hurler-Scheie syndrome Sialidosis type 1 Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick disease type C, late infantile neurologic onset GM1 gangliosidosis type 1 GM1 gangliosidosis type 3 GM1 gangliosidosis type 2 Acid sphingomyelinase deficiency Gangliosidosis Sanfilippo syndrome type A Sanfilippo syndrome type C Sandhoff disease, infantile form Sanfilippo syndrome type B Sandhoff disease, juvenile form Tay-Sachs disease, infantile form Tay-Sachs disease, juvenile form Multiple sulfatase deficiency Glycogen storage disease due to acid maltase deficiency, late-onset Aspartylglucosaminuria Fetal Gaucher disease Mucopolysaccharidosis type 6, rapidly progressing Mucopolysaccharidosis type 6, slowly progressing Sialidosis type 2 Tay-Sachs disease Farber disease Gaucher disease type 3 Hyaluronidase deficiency Cholesteryl ester storage disease Atypical Gaucher disease due to saposin C deficiency Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 3-methylcrotonyl-CoA carboxylase deficiency Glycogen storage disease due to muscle beta-enolase deficiency 6-pyruvoyl-tetrahydropterin synthase deficiency 2-hydroxyglutaric aciduria Argininosuccinic aciduria Glutaryl-CoA dehydrogenase deficiency Methylmalonic acidemia with homocystinuria Vitamin B12-unresponsive methylmalonic acidemia Vitamin B12-responsive methylmalonic acidemia Propionic acidemia GTP cyclohydrolase I deficiency Salla disease Glycogen storage disease due to acid maltase deficiency, infantile onset Fucosidosis Galactosialidosis Mucolipidosis Gaucher disease type 1 Tay-Sachs disease, adult form Gaucher disease type 2 GM2 gangliosidosis, AB variant Mucopolysaccharidosis type 2, severe form Isovaleric acidemia Alpha-mannosidosis, infantile form Pterin-4 alpha-carbinolamine dehydratase deficiency Mucopolysaccharidosis type 4A Glycogen storage disease due to hepatic glycogen synthase deficiency Medium chain acyl-CoA dehydrogenase deficiency Alpha-mannosidosis, adult form Infantile glycine encephalopathy Atypical glycine encephalopathy Neonatal glycine encephalopathy Argininemia Hyperphenylalaninemia due to DNAJC12 deficiency Homocystinuria without methylmalonic aciduria Vitamin B12-unresponsive methylmalonic acidemia type mut0 Carbamoyl-phosphate synthetase 1 deficiency Methylcobalamin deficiency type cblDv1 Carnitine palmitoyltransferase II deficiency Carnitine-acylcarnitine translocase deficiency Multiple acyl-CoA dehydrogenase deficiency Very long chain acyl-CoA dehydrogenase deficiency Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C Glycogen storage disease due to muscle phosphorylase kinase deficiency Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency Cystinuria Dihydropteridine reductase deficiency Mitochondrial trifunctional protein deficiency Pyridoxal phosphate-responsive seizures Phosphoserine aminotransferase deficiency, infantile/juvenile form X-linked creatine transporter deficiency Citrin deficiency Mild hyperphenylalaninemia Methylmalonic acidemia with homocystinuria, type cblJ Methylmalonic acidemia with homocystinuria, type cblX Encephalopathy due to sulfite oxidase deficiency Glycogen storage disease Glycogen storage disease due to glycogen debranching enzyme deficiency Glycogen storage disease due to muscle glycogen phosphorylase deficiency Tyrosinemia type 1 Ahornsirup-Krankheit, klassische Glutarazidurie Typ 3 Glykogenose durch Leberphosphorylasekinasemangel Galaktokinase-Mangel Galaktosämie, klassische Biotinidase-Mangel Glykogenose durch Leber- und Muskel-Phosphorylasekinase-Mangel Homocystinurie durch Methylen-Tetrahydrofolat-Reduktase-Mangel Phenylketonurie, milde Phenylketonurie, klassische Glykogenose Typ 1b Glykogenose durch muskulären Glykogensythasemangel Ahornsirup-Krankheit, Thiamin-responsive Hyperornithinämie-Hyperammonämie-Homocitrullinurie-Syndrom Serinbiosynthese-Signalweg-Defizienz, infantile/juvenile Form Methylmalonazidämie mit Homocystinurie Typ cbl C Methylmalonazidämie mit Homocystinurie Typ cbl F Epilepsie, Pyridoxin-abhängige Methylmalonazidämie, Vitamin-B12-sensible, Typ cblB Methylmalonazidämie, Vitamin B12-resistente, Typ mut- Carnitin-Palmitoyl-Transferase II-Mangel, schwere infantile Form Fruktoseintoleranz, hereditäre Hyperphenylalaninämie durch Tetrahydrobiopterin-Mangel Ahornsirup-Krankheit Methylmalonazidurie durch Transcobalamin-Rezeptor-Defekt D,L-2-Hydroxy-Glutarazidurie Methylcobalamin-Mangel Typ cbl E Beta-Ketothiolase-Mangel Ornithin-Transcarbamylase-Mangel Carnitin-Palmitoyl-Transferase IA-Mangel Carnitin-Mangel, primärer systemischer Sulfitoxidase-Mangel durch Molybdän-Kofaktor-Mangel Typ A Kurzketten-Acyl-CoA-Dehydrogenase-Mangel Sulfitoxidase-Mangel durch Molybdän-Kofaktor-Mangel Typ B Zitrullinämie Phenylketonurie Acyl-CoA-Dehydrogenase-Mangel, multipler neonataler transienter Tyrosinämie Typ 2 Methylmalonazidämie, Vitamin B12-sensible, Typ cblDv2 Malon- und Methylmalonazidurie, kombinierte Glycerol-Kinase-Mangel Zitrullinämie Typ II Multipler Acyl-CoA-Dehydrogenase-Mangel, schwerer neonataler Typ Neonatale intrahepatische Cholestase durch Citrin-Mangel Harnstoffzyklusdefekt und Störung der Ammoniak-Entgiftung Kreatin-Mangel-Syndrom Fruktose-1,6-Bisphosphatase-Mangel Glykogenose Typ 1 Glykogenose Typ 4 Glykogenose Typ 6 Glykogenose Typ 7 Neurometabolische Störung durch Serin-Mangel Guanidinoacetat-Methyltransferase-Mangel Chronisch neuroviszerale saure Sphingomyelinase-Mangel Ahornsirup-Krankheit, intermediäre Galaktose-Epimerase-Mangel Ahornsirup-Krankheit, intermittierende Homocystinurie, klassische Holocarboxylase-Synthetase-Mangel Sulfitoxidase-Mangel, isolierter Sulfitoxidase-Mangel durch Molybdän-Cofaktor-Mangel Glycin-Enzephalopathie Glykogenose Typ 1a Hyperammonämie durch N-Acetylglutamat-Synthetase-Mangel Hyperphenylalaninämie/Phenylketonurie, Tetrahydrobiopterin-responsive Methylmalonazidämie mit Homocystinurie Typ cbl D Sandhoff-Krankheit, adulte Form Dopa-responsive Dystonie durch Sepiapterin-Reduktase-Mangel Carnitin-Palmitoyl-Transferase II-Mangel, myopathische Form Methylmalonazidämie, Vitamin B12-sensible, Typ cblA D-2-Hydroxy-Glutarazidurie L-2-Hydroxy-Glutarazidurie Carnitin-Palmitoyl-Transferase II-Mangel, neonatale Form Methylmalonazidämie ohne Homocystinurie 3-Phosphoserin-Phosphatase-Mangel, infantile/juvenile Form