Holocarboxylase synthetase deficiency: Report of a case with onset in late infancy-Reference-Cited by-同舟云学术

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

Published:1999-04 Issue:2 Volume:22 Page:115-122
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Touma E.¹,Suormala T.²,Baumgartner E. R.²,Gerbaka B.³,Ogier de Baulny H.⁴,Loiselet J.¹

Affiliation:

1. 1 Biochemistry and Cytogenetic Laboratory; University St. Joseph; Beirut Lebanon

2. ; 2 Metabolic Unit; University Children's Hospital; Basel Switzerland

3. ; 3 Pediatric Department; Hôtel Dieu; Beirut Lebanon

4. ; 4 Centre d'Investigation Clinique; Hôpital Robert Debré; Paris France

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005485500096/fullpdf

Reference23 articles.

1. Enzyme studies in biotin-responsive disorders;Bartlett;J Inher Metab Dis,1985

2. A new case of holocarboxylase synthetase deficiency;Briones;J Inher Metab Dis,1989

3. The clinical spectrum of biotintreatable encephalopathies in Saudi Arabia;Dabbagh;Brain Dev,1994

4. Clustering of mutations in the biotinbinding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency;Dupuis;Hum Mol Genet,1996

5. Holocarboxylase synthetase deficiency: early diagnosis and management of a new case;Fuchshuber;Eur J Pediatr,1993

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Impaired glucose homeostasis and a novel HLCS pathogenic variant in holocarboxylase synthetase deficiency: a report of two cases and brief review;Journal of Pediatric Endocrinology and Metabolism;2020-11-26

2. Biotin;Biotin and Other Interferences in Immunoassays;2019

3. Antenatal and postnatal radiologic diagnosis of holocarboxylase synthetase deficiency: a systematic review;Pediatric Radiology;2016-01-11

4. Deficiencia de holocarboxilasa sintetasa de presentación tardía con actividad piruvato carboxilasa normal;Anales de Pediatría;2014-03

5. Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis;Molecular Genetics and Metabolism;2010-09

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