(Q40664442)

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A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency

scientific article published on March 2003

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Europe PubMed Central

PubMed publication ID

22 September 2017

A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency (English)

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Europe PubMed Central

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22 September 2017

holocarboxylase synthetase deficiency

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Nelson Leung-Sang Tang

1

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22 September 2017

2

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22 September 2017

Hilary Vallance

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Hilary D Vallance

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Collin K K Yong

3

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22 September 2017

Lawrence T K Wong

4

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22 September 2017

Derek A Applegarth

5

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22 September 2017

L K Law

7

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22 September 2017

Simon L M Fung

8

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22 September 2017

Tony W L Mak

9

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22 September 2017

Y M Sung

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22 September 2017

K L Cheung

11

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22 September 2017

T F Fok

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22 September 2017

publication date

1 March 2003

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22 September 2017

Clinical Biochemistry

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22 September 2017

36

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22 September 2017

2

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22 September 2017

145-149

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22 September 2017

Holocarboxylase synthetase deficiency: a treatable metabolic disorder masquerading as cerebral palsy

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

Late-onset holocarboxylase synthetase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

Five patients with a biotin-responsive defect in holocarboxylase formation: evaluation of responsiveness to biotin therapy in vivo and comparative biochemical studies in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

Holocarboxylase synthetase deficiency: report of a case with onset in late infancy

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

GLUT1-deficiency: barbiturates potentiate haploinsufficiency in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

Enzymatic diagnosis of holocarboxylase synthetase deficiency using apo-carboxyl carrier protein as a substrate.

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

Deficiency of biotinyl-AMP synthetase activity in fibroblasts of patients with holocarboxylase synthetase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

Isolation and characterization of mutations in the human holocarboxylase synthetase cDNA

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

Overview of common inherited metabolic diseases in a Southern Chinese population of Hong Kong.

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

The DNA sequence of human chromosome 21

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

Biochemical investigation of young hospitalized Chinese children: results over a 7-year period

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

An unusual case of multiple carboxylase deficiency presenting as generalized pustular psoriasis in a Chinese boy

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

Organic aciduria in neonatal multiple carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

US newborn screening system guidelines II: follow-up of children, diagnosis, management, and evaluation. Statement of the Council of Regional Networks for Genetic Services (CORN).

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

Late-onset holocarboxylase synthetase-deficiency: pre- and post-natal diagnosis and evaluation of effectiveness of antenatal biotin therapy

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

Prenatal diagnosis and treatment of holocarboxylase synthetase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0009-9120%2802%2900432-0

7 January 2021

Identifiers

10.1016/S0009-9120(02)00432-0

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Europe PubMed Central

PubMed publication ID

22 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

22 September 2017

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