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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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2007 | 1 |
2009 | 1 |
2018 | 2 |
2024 | 0 |
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Hearing loss in biotinidase deficiency: genotype-phenotype correlation.
J Pediatr. 2007 Apr;150(4):439-42. doi: 10.1016/j.jpeds.2007.01.036.
J Pediatr. 2007.
PMID: 17382128
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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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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Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.
Seker Yilmaz B, Mungan NO, Kor D, Bulut D, Seydaoglu G, Öktem M, Ceylaner S.
Seker Yilmaz B, et al.
J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):339-343. doi: 10.1515/jpem-2017-0406.
J Pediatr Endocrinol Metab. 2018.
PMID: 29353266
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