Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India.

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Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India.

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2015 nî lūn-bûn

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2015年の論文

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2015年学术文章

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2015年学术文章

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2015年学术文章

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2015年学术文章

@zh-my

2015年学术文章

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2015年學術文章

@yue

2015年學術文章

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2015年學術文章

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Clinical, Biochemical and Outc ...... iary Centre in Northern India.

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Clinical, Biochemical and Outc ...... iary Centre in Northern India.

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Clinical, Biochemical and Outc ...... iary Centre in Northern India.

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Clinical, Biochemical and Outc ...... iary Centre in Northern India.

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Clinical, Biochemical and Outc ...... iary Centre in Northern India.

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Clinical, Biochemical and Outc ...... iary Centre in Northern India.

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P1476

Clinical, Biochemical and Outc ...... iary Centre in Northern India.

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P2093

Ankur Singh

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Avinash Lomash

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Sanjeev Pandey

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Seema Kapoor

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P2860

Audiologic findings in children with biotinidase deficiency in Turkey

Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency

The Biotinidase Gene Variants Registry: A Paradigm Public Database

Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series).

Clinical issues and frequent questions about biotinidase deficiency.

Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".

National newborn screening program still a hype or a hope now?

Technical standards and guidelines for the diagnosis of biotinidase deficiency.

Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.

High incidence of partial biotinidase deficiency cases in newborns of Greek origin.

P304

SC08-10

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scholarly article

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10.7860/JCDR/2015/12958.6941

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2015-12-01T00:00:00Z

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26816961

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4717689

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