(Q44871604)

7 December 2017

title

Novel mutations cause biotinidase deficiency in Turkish children (English)

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7 December 2017

main subject

biotinidase deficiency

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R J Pomponio

1

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7 December 2017

T Coskun

2

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7 December 2017

M Demirkol

3

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7 December 2017

A Tokatli

4

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7 December 2017

I Ozalp

5

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7 December 2017

G Hüner

6

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7 December 2017

T Baykal

7

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7 December 2017

B Wolf

8

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7 December 2017

publication date

1 March 2000

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Journal of Inherited Metabolic Disease

7 December 2017

published in

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7 December 2017

volume

23

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7 December 2017

issue

2

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7 December 2017

page(s)

120-128

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https://scigraph.springernature.com/pub.10.1023/a:1005609614443

7 December 2017

exact match

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cites work

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

12 December 2020

Biotinidase deficiency with neurological features resembling multiple sclerosis

1 reference

12 December 2020

Purification of biotinidase from human plasma and its activity on biotinyl peptides

1 reference

12 December 2020

Structure of the human biotinidase gene

1 reference

12 December 2020

Infantile spasms as the initial symptom of biotinidase deficiency

1 reference

12 December 2020

Screening for biotinidase deficiency in newborns: worldwide experience.

1 reference

12 December 2020

Inborn errors of biotin metabolism. Clinical and laboratory features of eight cases

1 reference

12 December 2020

The major presenting symptom in a biotinidase-deficient patient: laryngeal stridor

1 reference

12 December 2020

Biotinidase deficiency: initial clinical features and rapid diagnosis.

1 reference

12 December 2020

1 reference

12 December 2020

Characterization of p53 gene mutations in esophageal squamous cell carcinoma cell lines: increased frequency and different spectrum of mutations from primary tumors

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

1 reference

12 December 2020

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

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12 December 2020

Profound biotinidase deficiency in two asymptomatic adults

1 reference

12 December 2020

Biotinidase deficiency: the possible role of biotinidase in the processing of dietary protein-bound biotin

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Sudden death associated with biotinidase deficiency

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12 December 2020

1 reference

12 December 2020

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

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12 December 2020

Biotinidase deficiency: a novel vitamin recycling defect

1 reference

12 December 2020

Human serum biotinidase. cDNA cloning, sequence, and characterization

1 reference

12 December 2020

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

1 reference

12 December 2020

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

12 December 2020

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

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12 December 2020

Incidence of biotinidase deficiency in Turkish newborns

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12 December 2020

Identifiers

DOI

10.1023/A:1005609614443

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Dimensions Publication ID

7 December 2017

1019179936

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