(Q28180723)

English

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

scientific article (publication date: February 2003)

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scholarly article

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

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mutational analysis

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based on heuristic

inferred from title

biotinidase deficiency

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author name string

Steven F Dobrowolski

1

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Janine Angeletti

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Richard A Banas

3

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Edwin W Naylor

4

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language of work or name

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publication date

February 2003

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Molecular Genetics and Metabolism

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78

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2

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100-7

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Worldwide survey of neonatal screening for biotinidase deficiency

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https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900231-7

7 January 2021

based on heuristic

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Biotinidase deficiency: a novel vitamin recycling defect

1 reference

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7 January 2021

based on heuristic

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Partial biotinidase deficiency: clinical and biochemical features

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900231-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900231-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900231-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900231-7

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900231-7

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based on heuristic

inferred from DOI database lookup

On the molecular nature of the Duarte variant of galactose-1-phosphate uridyl transferase (GALT).

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900231-7

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based on heuristic

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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

1 reference

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7 January 2021

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Integrated amplification and detection of the C677T point mutation in the methylenetetrahydrofolate reductase gene by fluorescence resonance energy transfer and probe melting curves

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Homogeneous multiplex genotyping of hemochromatosis mutations with fluorescent hybridization probes

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Rapid F508del and F508C assay using fluorescent hybridization probes

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Mass spectrometry in the clinical laboratory

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Medicine. Fast technology drives new world of newborn screening

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Neonatal screening for cystic fibrosis: addition of molecular diagnostics to increase specificity

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Newborn screening for cystic fibrosis in Wisconsin: comparison of biochemical and molecular methods.

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Analysis of common mutations in the galactose-1-phosphate uridyl transferase gene: new assays to increase the sensitivity and specificity of newborn screening for galactosemia

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900231-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Galactosemia Screening of Newborns in Massachusetts

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900231-7

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2802%2900231-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/S1096-7192(02)00231-7

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