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 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 Citrullinemia type II Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type Neonatal intrahepatic cholestasis due to citrin deficiency Disorder of urea cycle metabolism and ammonia detoxification Creatine deficiency syndrome Fructose-1,6-bisphosphatase deficiency Glycogen storage disease due to glucose-6-phosphatase deficiency Glycogen storage disease due to glycogen branching enzyme deficiency Glycogen storage disease due to liver glycogen phosphorylase deficiency Glycogen storage disease due to muscle phosphofructokinase deficiency Neurometabolic disorder due to serine deficiency Guanidinoacetate methyltransferase deficiency Chronic neurovisceral acid sphingomyelinase deficiency Intermediate maple syrup urine disease Galactose epimerase deficiency Intermittent maple syrup urine disease Homocystinurie par déficit en cystathionine bêta-synthase Déficit en holocarboxylase synthétase Déficit isolé en sulfite oxydase Déficit en sulfite oxydase dû à un déficit en cofacteurs du molybdène Encéphalopathie glycinique Glycogénose par déficit en glucose-6-phosphatase de type Ia Hyperammoniémie par déficit en N-acétylglutamate synthase Hyperphénylalaninémie/phénylcétonurie sensible à la tétrahydrobioptérine Acidémie méthylmalonique avec homocystinurie type cblD Maladie de Sandhoff adulte Dystonie dopa-sensible par déficit en sépiaptérine réductase Déficit en carnitine palmitoyltransférase II, forme myopathique Acidémie méthylmalonique sensible à la vitamine B12 type cblA Acidurie D-2-hydroxyglutarique Acidurie L-2-hydroxyglutarique Déficit en carnitine palmitoyltransférase II, forme néonatale Acidémie méthylmalonique sans homocystinurie Déficit en 3-phosphosérine phosphatase, forme infantile/juvénile