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Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay.

Koene S, Kluijtmans LAJ, Wevers R, Mock D, Pasch M, Morava E. Biotin-sensitive 3-methylcrotonylglycinuria in a patient with severe growth delay, ectodermal abnormalities, neonatal progeroid appearance, and developmental delay. Clin Dysmorphol. 2008 Jul; 17(3):195-198.

View in: PubMed