Genetic basis of mitochondrial HMG-CoA synthase deficiency-Reference-Cited by-同舟云学术

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Genetic basis of mitochondrial HMG-CoA synthase deficiency

Published:2001-07 Issue:1 Volume:109 Page:19-23
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Aledo Rosa,Zschocke Johannes,Pié Juan,Mir Cecilia,Fiesel Sonja,Mayatepek Ertan,Hoffmann Georg F.,Casals Núria,Hegardt Fausto G.

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s004390100554.pdf

Cited by 42 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. Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency;Molecular Genetics and Metabolism Reports;2024-03

2. Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers;Journal of Investigative Medicine High Impact Case Reports;2024-01

3. Fatty Acid Oxidation Disorders;Nutrition Management of Inherited Metabolic Diseases;2022

4. Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency;European Journal of Medical Genetics;2020-12

5. Clinical, biochemical, molecular and therapeutic characteristics of four new patients of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency;Clinica Chimica Acta;2020-10

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