(Q28185801)

English

Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies

scientific article (publication date: December 2003)

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scholarly article

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Molecular characterisation and neuropsychological outcome of 21 patients with profound biotinidase deficiency detected by newborn screening and family studies (English)

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neuropsychology

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based on heuristic

inferred from title

biotinidase deficiency

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author name string

Dorothea Möslinger

1

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Adolf Mühl

2

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Terttu Suormala

3

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Regula Baumgartner

4

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Sylvia Stöckler-Ipsiroglu

5

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language of work or name

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publication date

December 2003

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European Journal of Pediatrics

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162 Suppl 1

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S46-9

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Structure of the human biotinidase gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/14628140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison of patients with complete and partial biotinidase deficiency: biochemical studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/14628140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14628140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biotin deficiency in chicks fed a wheat-based diet

1 reference

https://pubmed.ncbi.nlm.nih.gov/14628140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria

1 reference

https://pubmed.ncbi.nlm.nih.gov/14628140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biotinidase Km-variants: detection and detailed biochemical investigations

1 reference

https://pubmed.ncbi.nlm.nih.gov/14628140

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/14628140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A screening method for biotinidase deficiency in newborns

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https://pubmed.ncbi.nlm.nih.gov/14628140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Multiple carboxylase deficiency: inherited and acquired disorders of biotin metabolism

1 reference

https://pubmed.ncbi.nlm.nih.gov/14628140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Profound biotinidase deficiency in two asymptomatic adults

1 reference

https://pubmed.ncbi.nlm.nih.gov/14628140

12 December 2020

based on heuristic

inferred from PubMed ID 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://pubmed.ncbi.nlm.nih.gov/14628140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/14628140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human serum biotinidase. cDNA cloning, sequence, and characterization

1 reference

https://pubmed.ncbi.nlm.nih.gov/14628140

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00431-003-1351-3

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PubMed publication ID

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