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1997 | 1 |
2003 | 1 |
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Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.
Pediatr Res. 1997 Dec;42(6):840-8. doi: 10.1203/00006450-199712000-00020.
Pediatr Res. 1997.
PMID: 9396567
Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies.
László A, Schuler EA, Sallay E, Endreffy E, Somogyi C, Várkonyi A, Havass Z, Jansen KP, Wolf B.
László A, et al.
J Inherit Metab Dis. 2003;26(7):693-8. doi: 10.1023/b:boli.0000005622.89660.59.
J Inherit Metab Dis. 2003.
PMID: 14707518
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