A genomic approach to mutation analysis of holocarboxylase synthetase gene in three Chinese patients with late-onset holocarboxylase synthetase deficiency-Reference-Cited by-同舟云学术

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

Published:2003-03 Issue:2 Volume:36 Page:145-149
ISSN:0009-9120
Container-title:Clinical Biochemistry
language:en
Short-container-title:Clinical Biochemistry

Author:

Tang Nelson L.S.,Hui Joannie,Yong Collin K.K.,Wong Lawrence T.K.,Applegarth Derek A.,Vallance Hilary D.,Law L.K.,Fung Simon L.M.,Mak Tony W.L.,Sung Y.M.,Cheung K.L.,Fok T.F.

Publisher

Elsevier BV

Subject

Clinical Biochemistry,General Medicine

Reference24 articles.

1. Holocarboxylase synthetase deficiency;Livne;J Child Neurol,1994

2. Late-onset holocarboxylase synthetase deficiency;Gibson;J Inherit Metab Dis,1996

3. Five patients with a biotin-responsive defect in holocarboxylase formation;Suormala;Pediatr Res,1997

4. Holocarboxylase synthetase deficiency;Touma;J Inher Metab Dis,1999

5. Diagnosis and molecular analysis of an atypical case of holocarboxylase synthetase deficiency;Sakamoto;Eur J Pediatrics,2000

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