SE-ATLAS

Mukopolysaccharidose Typ 1 Mukopolysaccharidose Typ 2 Mukopolysaccharidose Typ 3 Mukopolysaccharidose Typ 4 Mukopolysaccharidose Typ 6 Mukopolysaccharidose Typ 7 Fabry-Syndrom Alpha-Mannosidose Wolman-Krankheit GM1-Gangliosidose Gaucher-Krankheit Glykogenose Typ 2 Saure Sphingomyelinase-Mangel, infantile Form GM2-Gangliosidose Saure Sphingomyelinase-Mangel, chronisch-viszerale Form Niemann-Pick-Krankheit Typ C, schwere perinatale Form Niemann-Pick-Krankheit Typ C, juvenile neurologische Form Beta-Mannosidose Niemann-Pick-Krankheit Typ C, adulte neurologische Form Mukopolysaccharidose Typ 2, attenuierte Form Gaucher-Krankheit - Ophthalmoplegie - kardiovaskuläre Verkalkungen Sialidose Mukopolysaccharidose Typ 4B Mukolipidose Typ II Alpha-N-Acetylgalactosaminidase-Mangel Mukolipidose Typ III Mukolipidose Typ IV Tyrosinämie Typ 3 Klassisches Glukosetransporter-Typ-1-Mangel-Syndrom Niemann-Pick-Krankheit Typ C Sandhoff-Krankheit Hurler-Syndrom Scheie-Syndrom Hurler-Scheie-Syndrom Sialidose Typ 1 Niemann-Pick-Krankheit Typ C, schwere früh-infantile neurologische Form Niemann-Pick-Krankheit Typ C, spät-infantile neurologische Form GM1-Gangliosidose Typ 1 GM1-Gangliosidose Typ 3 GM1-Gangliosidose Typ 2 Saure Sphingomyelinase-Mangel Gangliosidose Sanfilippo-Krankheit Typ A Sanfilippo-Krankheit Typ C Sandhoff-Krankheit, infantile Form Sanfilippo-Krankheit Typ B Sandhoff-Krankheit, juvenile Form Tay-Sachs-Krankheit, B-Variante, infantile Form Tay-Sachs-Krankheit, B-Variante, juvenile Form Sulfatase-Mangel, multipler Glykogenose durch Saure-Maltase-Mangel, spät beginnende Form Aspartylglukosaminurie Gaucher-Krankheit, fetale Mukopolysaccharidose Typ 6, rasch fortschreitend Mukopolysaccharidose Typ 6, langsam fortschreitend Sialidose Typ 2 Tay-Sachs-Krankheit Farber-Krankheit Gaucher-Krankheit Typ 3 Hyaluronidasemangel Cholesterinester-Speicherkrankheit Gaucher-Krankheit, atypische, durch to Saposin C-Mangel Langketten-3-Hydroxyacyl-CoA-Dehydrogenase-Mangel 3-Methylcrotonyl-CoA-Carboxylase-Mangel, isolierter Glykogenose durch muskulären beta-Enolase-Mangel 6-Pyruvoyl-Tetrahydropterin-Synthase-Mangel 2-Hydroxy-Glutarazidurie Argininbernsteinsäure-Krankheit Glutaryl-CoA-Dehydrogenase-Mangel Methylmalonazidämie mit Homocystinurie Methylmalonazidämie, Vitamin B12-resistente Methylmalonazidämie, Vitamin B12-sensible Propionazidämie GTP-Cyclohydrolase I-Mangel Salla-Krankheit Glykogenose Typ 2, infantile Form Fukosidose Galaktosialidose Mukolipidose Gaucher-Krankheit Typ 1 Tay-Sachs-Krankheit, B-Variante, adulte Form Gaucher-Krankheit Typ 2 GM2-Gangliosidose, AB-Variante Mukopolysaccharidose Typ 2, schwere Form Isovalerianazidämie Alpha-Mannosidose, infantile Form Pterin-4-alpha-Carbinolamin-Dehydratase-Mangel Mukopolysaccharidose Typ 4A Glykogen-Speicherkrankheit durch hepatischen Glykogensynthase-Mangel Mittelketten-Acyl-CoA-Dehydrogenase-Mangel Alpha-Mannosidose, adulte Form Glycin-Enzephalopathie, infantile Glycin-Enzephalopathie, atypische Glycin-Enzephalopathie, neonatale Argininämie Hyperphenylalaninämie durch DNAJC12-Mangel Homocystinurie ohne Methylmalonazidurie Methylmalonazidämie, Vitamin B12-resistente, Typ mut0 Carbamoyl-Phosphat-Synthetase 1-Mangel Methylcobalamin-Mangel Typ 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 Classic maple syrup urine disease Glutaric acidemia type 3 Glycogen storage disease due to liver phosphorylase kinase deficiency Galactokinase deficiency Classic galactosemia Biotinidase deficiency Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Homocystinuria due to methylene tetrahydrofolate reductase deficiency Mild phenylketonuria Classic phenylketonuria Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Glycogen storage disease due to muscle and heart glycogen synthase deficiency Thiamine-responsive maple syrup urine disease Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Serine biosynthesis pathway deficiency, infantile/juvenile form Methylmalonic acidemia with homocystinuria, type cblC Methylmalonic acidemia with homocystinuria type cblF Pyridoxine-dependent epilepsy Vitamin B12-responsive methylmalonic acidemia type cblB Vitamin B12-unresponsive methylmalonic acidemia type mut- Carnitine palmitoyl transferase II deficiency, severe infantile form Hereditary fructose intolerance Hyperphenylalaninemia due to tetrahydrobiopterin deficiency Maple syrup urine disease Methylmalonic aciduria due to transcobalamin receptor defect D,L-2-hydroxyglutaric aciduria Methylcobalamin deficiency type cblE Beta-ketothiolase deficiency Ornithine transcarbamylase deficiency Carnitine palmitoyl transferase 1A deficiency Systemic primary carnitine deficiency Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A Short chain acyl-CoA dehydrogenase deficiency Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B Citrullinemia Phenylketonuria Transient neonatal multiple acyl-CoA dehydrogenase deficiency Tyrosinemia type 2 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 Combined malonic and methylmalonic acidemia Glycerol kinase deficiency 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