(Q37686856)

22 August 2017

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title

Clinical issues and frequent questions about biotinidase deficiency (English)

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22 August 2017

Barry Wolf

1

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22 August 2017

publication date

11 January 2010

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Molecular Genetics and Metabolism

22 August 2017

published in

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22 August 2017

volume

100

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22 August 2017

issue

1

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22 August 2017

page(s)

6-13

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

22 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.01.003

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

7 January 2021

1 reference

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

7 January 2021

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Biotinidase deficiency in juvenile multiple carboxylase deficiency

7 January 2021

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Biotinidase deficiency: initial clinical features and rapid diagnosis.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.01.003

Deficient liver biotinidase activity in multiple carboxylase deficiency

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.01.003

Delayed-onset profound biotinidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.01.003

Profound biotinidase deficiency in two asymptomatic adults

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.01.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.01.003

The quantitation of biotinidase activity in dried blood spots using microtiter transfer plates: identification of biotinidase-deficient and heterozygous individuals

7 January 2021

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Worldwide survey of neonatal screening for biotinidase deficiency

7 January 2021

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Phenotypic variation in biotinidase deficiency

7 January 2021

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Neonatal screening for biotinidase deficiency: results of a 1-year pilot study

7 January 2021

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Clinical findings in four children with biotinidase deficiency detected through a statewide neonatal screening program

7 January 2021

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Mutations in BTD causing biotinidase deficiency

7 January 2021

1 reference

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.01.003

Low biotinidase activities in the sera of patients with impaired liver function: evidence that the liver is the source of serum biotinidase

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.01.003

Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations

7 January 2021

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7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.01.003

Children with profound biotinidase deficiency should be treated with biotin regardless of their residual enzyme activity or genotype

7 January 2021

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Hearing loss in biotinidase deficiency: genotype-phenotype correlation.

7 January 2021

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Localization of biotinidase in the brain: implications for its role in hearing loss in biotinidase deficiency

7 January 2021

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Quantitative determination of biocytin in urine of patients with biotinidase deficiency using high-performance liquid chromatography (HPLC).

7 January 2021

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A new solid-phase assay for biotin and biocytin and its application to the study of patients with biotinidase deficiency

7 January 2021

1 reference

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Biotinidase deficiency and the eye and ear

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.01.003

Partial biotinidase deficiency: clinical and biochemical features

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.01.003

Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.01.003

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.01.003

Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening results

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2010.01.003

10.1016/J.YMGME.2010.01.003

7 January 2021

Identifiers

DOI

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22 August 2017

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