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Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India
INTRODUCTION: Biotinidase deficiency is an inherited metabolic disorder with estimated birth incidence of 1 in 61,000 for profound and partial deficiency. Estimated incidence of profound and partial biotinidase deficiency is 1 in 1, 37,000 and 1 in 1, 10,000 respectively. The carrier frequency in ge...
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| 出版年: | J Clin Diagn Res |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
JCDR Research and Publications (P) Limited
2015
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4717689/ https://ncbi.nlm.nih.gov/pubmed/26816961 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7860/JCDR/2015/12958.6941 |
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