SE-ATLAS

Störung des beta- und omega-Aminosäuren-Stoffwechsels Motoneuronkrankheit Hämolytische Anämie durch Diphosphoglycerat-Mutase-Mangel Lysosomale Speicherkrankheit Seltene angeborene Stoffwechselkrankheit Hyperoxalurie, primäre, Typ 1 Peroxisomale Krankheit Chondrodysplasia punctata, rhizomeler Typ Neuromuskuläre Krankheit Mitochondriopathie Fabry-Syndrom CADDS Kohlenhydrat-Stoffwechselstörung Harnstoffzyklusdefekt und Störung der Ammoniak-Entgiftung Alpha-1-Antitrypsin-Mangel Aminosäureaufnahme- und Transport-Störung Störung des Neurotransmitter-Stoffwechsels/-Transports Organische Azidurie Porphyrin- und Häm-Stoffwechselstörung Störung des Methionin-/schwefelhaltige Aminosäuren-Stoffwechsels Kreatin-Mangel-Syndrom Dyslipidämie, seltene Gamma-Amino-Buttersäure-Stoffwechselstörung Fettsäureoxidationsstörungen und Ketogenesedefekt Saure Phosphatase-Mangel, lysosomaler Störung der peroxisomalen Alpha-, Beta- und Omegaoxidation Glukoneogenese-Störung Glycerol-Stoffwechselstörung Störung der Glykolyse Metabolitenstoffwechsel- und Transportstörungen Fett-Stoffwechselstörung Histidin-Stoffwechselstörung Glyoxylat-Stoffwechselstörung Pentosephosphat-Stoffwechselstörung Asparagin-Stoffwechselstörung Ornithin/Prolin-Stoffwechselstörung Ceroid-Lipofuszinose, neuronale Disorder of carbohydrate absorption and transport Peroxisomal beta-oxidation disorder Disorder of peptide metabolism Pycnodysostosis Disorder of phenylalanin or tyrosine metabolism Peroxisome biogenesis disorder Disorder of galactose metabolism Disorder of pyridoxine metabolism Glycoproteinosis Disorder of purine metabolism Disorder of fructose metabolism Disorder of vitamin and non-protein cofactor absorption and transport Disorder of pyrimidine metabolism Disorder of serine or glycine metabolism Disorder of branched-chain amino acid metabolism Disorder of the gamma-glutamyl cycle Disorder of amino acid and other organic acid metabolism Refsum disease Glycogen storage disease Disorder of energy metabolism Disorder of mineral absorption and transport Disorder of lipid absorption and transport Lipid storage disease Disorder of lysosomal amino acid transport Niemann-Pick disease type C Pyruvate metabolism disorder Brachytelephalangic chondrodysplasia punctata Mucolipidosis Disorder of biogenic amine metabolism and transport Mucopolysaccharidosis Acatalasemia Tricarboxylic acid cycle disorder Glutaric acidemia type 3 Oligosaccharidosis Niemann-Pick disease type C, severe early infantile neurologic onset Niemann-Pick disease type C, severe perinatal form Metabolic disease involving other neurotransmitter deficiency Other metabolic disease Niemann-Pick disease type C, late infantile neurologic onset Disorder of sialic acid metabolism Disorder of purine or pyrimidine metabolism Sphingolipidosis Sterol metabolism disorder Muscular channelopathy Niemann-Pick disease type C, juvenile neurologic onset Congenital bile acid synthesis defect type 4 Hypotonia-failure to thrive-microcephaly syndrome Disorder of lysine and hydroxylysine metabolism Disorder of phospholipids, sphingolipids and fatty acids biosynthesis Lysosomal glycogen storage disease Skeletal muscle disease Congenital disorder of glycosylation Disorder of tryptophan metabolism Disorder of glutamine metabolism Genetic recurrent myoglobinuria Disorder of lysosomal-related organelles Autosomal dominant myoglobinuria Neuromuscular junction disease