Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.

Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.

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http://www.wikidata.org/entity/Q45105843
Mutations in BTD causing biotinidase deficiencyPerformance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumStructure of the human biotinidase gene.Recent advances in the genetics of epilepsy: insights from human and animal studies.Clinical utility gene card for: Biotinidase deficiency-update 2015.Biotinidase deficiency: "if you have to have an inherited metabolic disease, this is the one to have".Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.Neonatal screening for biotinidase deficiency: A 30-year single center experience.Clinical utility gene card for: biotinidase deficiency.Technical standards and guidelines for the diagnosis of biotinidase deficiency.High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota.Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations.Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.
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Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.

Item
http://www.wikidata.org/entity/Q45105843
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1997 nî lūn-bûn
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1997年の論文
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P2093
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P356
P433
P478
P577
P698