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Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.
Pediatr Res. 1999 Jul;46(1):20-7. doi: 10.1203/00006450-199907000-00004.
Pediatr Res. 1999.
PMID: 10400129
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.
Wolf B.
Wolf B.
Genet Med. 2017 Apr;19(4):396-402. doi: 10.1038/gim.2016.135. Epub 2016 Sep 22.
Genet Med. 2017.
PMID: 27657684
Free article.
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Hearing loss in biotinidase deficiency: genotype-phenotype correlation.
Sivri HS, Genç GA, Tokatli A, Dursun A, Coşkun T, Aydin HI, Sennaroğlu L, Belgin E, Jensen K, Wolf B.
Sivri HS, et al.
J Pediatr. 2007 Apr;150(4):439-42. doi: 10.1016/j.jpeds.2007.01.036.
J Pediatr. 2007.
PMID: 17382128
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Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.
Ye J, Wang T, Han LS, Qiu WJ, Zhang HW, Zhang YF, Gao XL, Wang Y, Gu XF.
Ye J, et al.
J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S295-302. doi: 10.1007/s10545-009-1238-1. Epub 2009 Aug 29.
J Inherit Metab Dis. 2009.
PMID: 19728141
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Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.
Liu Z, Zhao X, Sheng H, Cai Y, Yin X, Chen X, Su L, Lu Z, Zeng C, Li X, Liu L.
Liu Z, et al.
Am J Med Genet A. 2018 Mar;176(3):589-596. doi: 10.1002/ajmg.a.38601. Epub 2018 Jan 23.
Am J Med Genet A. 2018.
PMID: 29359854
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