(Q45110240)

9 December 2017

title

Delayed-onset profound biotinidase deficiency (English)

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9 December 2017

Wolf B

1

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9 December 2017

Pomponio RJ

2

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9 December 2017

Norrgard KJ

3

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9 December 2017

Lott IT

4

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9 December 2017

Baumgartner ER

5

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9 December 2017

Suormala T

6

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9 December 2017

Ramaekers VT

7

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9 December 2017

Coskun T

8

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9 December 2017

Tokatli A

9

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9 December 2017

Ozalp I

10

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9 December 2017

Hymes J

11

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9 December 2017

language of work or name

English

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publication date

1 February 1998

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The Journal of Pediatrics

9 December 2017

published in

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9 December 2017

volume

132

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9 December 2017

issue

2

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9 December 2017

page(s)

362-365

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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

9 December 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970464-0

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970464-0

Phenotypic variation in biotinidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970464-0

Worldwide survey of neonatal screening for biotinidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970464-0

Biotinidase deficiency: initial clinical features and rapid diagnosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970464-0

Cerebral metabolic change after treatment in biotinidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970464-0

A biotinidase Km variant causing late onset bilateral optic neuropathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970464-0

Biotinidase deficiency: accumulation of lactate in the brain and response to physiologic doses of biotin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970464-0

Biotinidase deficiency with neurological features resembling multiple sclerosis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970464-0

Recovery from neurological deficits following biotin treatment in a biotinidase Km variant

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970464-0

Mutational hotspot in the human biotinidase gene causes profound biotinidase deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970464-0

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%2FS0022-3476%2898%2970464-0

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

https://api.crossref.org/works/10.1016%2FS0022-3476%2898%2970464-0

10.1016/S0022-3476(98)70464-0

7 January 2021

Identifiers

DOI

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9 December 2017

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