about
A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduriaCCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein GlycosylationDelta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and prolineCocaine induces a mixed lysosomal lipidosis in cultured fibroblasts, by inactivation of acid sphingomyelinase and inhibition of phospholipase A1Molecular identification of aspartate N-acetyltransferase and its mutation in hypoacetylaspartia
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description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Marie-Cécile Nassogne
@ast
Marie-Cécile Nassogne
@en
Marie-Cécile Nassogne
@es
Marie-Cécile Nassogne
@nl
Marie-Cécile Nassogne
@sl
type
label
Marie-Cécile Nassogne
@ast
Marie-Cécile Nassogne
@en
Marie-Cécile Nassogne
@es
Marie-Cécile Nassogne
@nl
Marie-Cécile Nassogne
@sl
prefLabel
Marie-Cécile Nassogne
@ast
Marie-Cécile Nassogne
@en
Marie-Cécile Nassogne
@es
Marie-Cécile Nassogne
@nl
Marie-Cécile Nassogne
@sl