Mutations in BTD causing biotinidase deficiency (Q28201613)

Localization of serum biotinidase (BTD) to human chromosome 3 in band p25.

Europe PubMed Central

title

Mutations in BTD causing biotinidase deficiency (English)

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main subject

biotinidase deficiency

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J Hymes

1

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C M Stanley

series ordinal

2

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B Wolf

series ordinal

3

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language of work or name

English

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publication date

November 2001

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published in

Human Mutation

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volume

18

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issue

5

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page(s)

375-81

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cites work

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Biotinylation of histones by human serum biotinidase: assessment of biotinyl-transferase activity in sera from normal individuals and children with biotinidase deficiency

21 January 2018

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Structure of the human biotinidase gene

21 January 2018

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Partial biotinidase deficiency: clinical and biochemical features

21 January 2018

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Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation

21 January 2018

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Double mutation (A171T and D444H) is a common cause of profound biotinidase deficiency in children ascertained by newborn screening the the United States. Mutations in brief no. 128. Online

21 January 2018

1 reference

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

21 January 2018

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Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children

21 January 2018

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Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

21 January 2018

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Deletion/insertion mutation that causes biotinidase deficiency may result from the formation of a quasipalindromic structure

21 January 2018

1 reference

Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis

21 January 2018

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Arg538 to Cys mutation in a CpG dinucleotide of the human biotinidase gene is the second most common cause of profound biotinidase deficiency in symptomatic children

21 January 2018

1 reference

Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene

21 January 2018

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Mutation in a putative glycosylation site (N489T) of biotinidase in the only known Japanese child with biotinidase deficiency

21 January 2018

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Novel mutations cause biotinidase deficiency in Turkish children

21 January 2018

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Novel mutations in children with profound biotinidase deficiency from Saudi Arabia

21 January 2018

1 reference

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

21 January 2018

1 reference

Amino acid homologies between human biotinidase and bacterial aliphatic amidases: putative identification of the active site of biotinidase

21 January 2018

1 reference

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

21 January 2018

1 reference

Biotinidase deficiency: a novel vitamin recycling defect

21 January 2018

1 reference

Profound biotinidase deficiency in two asymptomatic adults

21 January 2018

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Delayed-onset profound biotinidase deficiency

21 January 2018

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Increased plasma biotinidase activity in patients with glycogen storage disease type Ia: effect of biotin supplementation

21 January 2018

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Phenotypic variation in biotinidase deficiency

21 January 2018

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