The Biotinidase Gene Variants Registry: A Paradigm Public Database - Wikidata - awgldk - TriplyDB

The Biotinidase Gene Variants Registry: A Paradigm Public Database

The Biotinidase Gene Variants Registry: A Paradigm Public Database

http://www.wikidata.org/entity/Q30428953

about

Clinical, Biochemical and Outcome Profile of Biotinidase Deficient Patients from Tertiary Centre in Northern India.Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014)Clinical utility gene card for: Biotinidase deficiency-update 2015.First microdeletion involving only the biotinidase gene that can cause biotinidase deficiency: A lesson for clinical practice.Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.Biochemical Hyperthyroidism in a Newborn Baby Caused by Assay Interaction from Biotin Intake.First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children.Defects in biotin (Btn) metabolism Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.Defective extracellular BTD does not hydrolyse BCTN Defective mitochondrial BTD does not hydrolyse BCTN

P2860

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P2860

The Biotinidase Gene Variants Registry: A Paradigm Public Database

http://www.wikidata.org/entity/Q30428953

description

2013 nî lūn-bûn

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2013 թուականի Մարտին հրատարակուած գիտական յօդուած

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2013 թվականի մարտին հրատարակված գիտական հոդված

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2013年の論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年論文

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2013年论文

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The Biotinidase Gene Variants Registry: A Paradigm Public Database

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The Biotinidase Gene Variants Registry: A Paradigm Public Database

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Barry Wolf

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David K Crockett

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Melinda Procter

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Rong Mao

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P2860

Biotinidase Deficiency: New Directions and Practical Concerns

Mutations in BTD causing biotinidase deficiency

Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies

Asymptomatic adults and older siblings with biotinidase deficiency ascertained by family studies of index cases

Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder

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

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

The Alport syndrome COL4A5 variant database.

The SPRED1 Variants Repository for Legius Syndrome

Clinical issues and frequent questions about biotinidase deficiency.

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727-731

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