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1997 | 1 |
2014 | 1 |
2024 | 0 |
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Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
BMC Med Genet. 2014 Sep 1;15:96. doi: 10.1186/s12881-014-0096-3.
BMC Med Genet. 2014.
PMID: 25174816
Free PMC article.
Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis.
Pomponio RJ, Hymes J, Reynolds TR, Meyers GA, Fleischhauer K, Buck GA, Wolf B.
Pomponio RJ, et al.
Pediatr Res. 1997 Dec;42(6):840-8. doi: 10.1203/00006450-199712000-00020.
Pediatr Res. 1997.
PMID: 9396567
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