Novel mutations in children with profound biotinidase deficiency from Saudi Arabia

R. J. Pomponio; P. T. Ozand; M. Al Essa; B. Wolf

doi:10.1023/A:1005626102147

Novel mutations in children with profound biotinidase deficiency from Saudi Arabia

R. J. Pomponio, P. T. Ozand, M. Al Essa, B. Wolf^*

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

15 Scopus citations

Original language	English (US)
Pages (from-to)	185-187
Number of pages	3
Journal	Journal of inherited metabolic disease
Volume	23
Issue number	2
DOIs	https://doi.org/10.1023/A:1005626102147
State	Published - 2000

Funding

This work was funded in part by NIH grant HD44258 to B.W. The authors thank Dr G. A. Buck, T. R. Reynolds and G. A. Meyers for assistance in automated sequencing at the Commonwealth Biotechnologies Institute in Richmond, VA, USA.

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1023/A:1005626102147

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@article{6a015c5a71194b6dbe17d6bc5176514d,

title = "Novel mutations in children with profound biotinidase deficiency from Saudi Arabia",

author = "Pomponio, {R. J.} and Ozand, {P. T.} and {Al Essa}, M. and B. Wolf",

note = "Funding Information: This work was funded in part by NIH grant HD44258 to B.W. The authors thank Dr G. A. Buck, T. R. Reynolds and G. A. Meyers for assistance in automated sequencing at the Commonwealth Biotechnologies Institute in Richmond, VA, USA.",

year = "2000",

doi = "10.1023/A:1005626102147",

language = "English (US)",

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pages = "185--187",

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number = "2",

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T1 - Novel mutations in children with profound biotinidase deficiency from Saudi Arabia

AU - Pomponio, R. J.

AU - Ozand, P. T.

AU - Al Essa, M.

AU - Wolf, B.

N1 - Funding Information: This work was funded in part by NIH grant HD44258 to B.W. The authors thank Dr G. A. Buck, T. R. Reynolds and G. A. Meyers for assistance in automated sequencing at the Commonwealth Biotechnologies Institute in Richmond, VA, USA.

PY - 2000

Y1 - 2000

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U2 - 10.1023/A:1005626102147

DO - 10.1023/A:1005626102147

M3 - Article

C2 - 10801060

AN - SCOPUS:0034076852

SN - 0141-8955

VL - 23

SP - 185

EP - 187

JO - Journal of inherited metabolic disease

JF - Journal of inherited metabolic disease

IS - 2

ER -

Novel mutations in children with profound biotinidase deficiency from Saudi Arabia

Funding

ASJC Scopus subject areas

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