Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency-Reference-Cited by-同舟云学术

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Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency

Published:2000-10-27 Issue:4 Volume:107 Page:320-326
ISSN:0340-6717
Container-title:Human Genetics
language:
Short-container-title:Human Genetics

Author:

Muroi Junko,Yorifuji Tohru,Uematsu Ayumi,Shigematsu Yosuke,Onigata Kazumichi,Maruyama Hiroaki,Nobutoki Tatsuro,Kitamura Akiko,Nakahata Tatsutoshi

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s004390000363.pdf

Cited by 20 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. 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces;Orphanet Journal of Rare Diseases;2020-02-14

2. Recurrent ketoacidosis: Is it a ketone metabolism disorder?;Journal of Dr Behcet Uz Children s Hospital;2018

3. Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency;International Journal of Molecular Medicine;2015-04-14

4. Ketone body metabolism and its defects;Journal of Inherited Metabolic Disease;2014-04-08

5. Characterization of a novel HMG-CoA lyase enzyme with a dual location in endoplasmic reticulum and cytosol;Journal of Lipid Research;2012-10

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