Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay.
until further notice
SourceClinical Dysmorphology, 17, 3, (2008), pp. 195-8
Article / Letter to editor
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Paediatrics - OUD tm 2017
SubjectDCN 1: Perception and Action; DCN 3: Neuroinformatics; IGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 4: Glycostation disorders; IGMD 8: Mitochondrial medicine; N4i 1: Pathogenesis and modulation of inflammation; NCMLS 4: Energy and redox metabolism; UMCN 3.1: Neuromuscular development and genetic disorders; UMCN 4.2: Chronic inflammation and autoimmunity; UMCN 5.3: Cellular energy metabolism
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