Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria-Reference-Cited by-同舟云学术

Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria

Published:2006-03 Issue:3 Volume:87 Page:243-248
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Loupatty Ference J.,van der Steen Annemarie,IJlst Lodewijk,Ruiter Jos P.N.,Ofman Rob,Baumgartner Matthias R.,Ballhausen Diana,Yamaguchi Seiji,Duran Marinus,Wanders Ronald J.A.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference15 articles.

1. 3-Hydroxyisobutyric aciduria: an inborn error of valine metabolism;Ko;Pediatr. Res.,1991

2. Brain dysgenesis and congenital intracerebral calcification associated with 3-hydroxyisobutyric aciduria;Chitayat;J. Pediatr.,1992

3. 3-Hydroxyisobutyric aciduria with a mild clinical course;Boulat;J. Inherit. Metab Dis.,1995

4. 3-Hydroxyisobutyric aciduria in two brothers;Sasaki;Pediatr. Neurol.,1998

5. A severely brain-damaged case of 3-hydroxyisobutyric aciduria;Sasaki;Brain Dev.,2001

Cited by 24 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‐Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D‐ and L‐3‐Hydroxyisobutyric acid by an LC–MS / MS method;Journal of Inherited Metabolic Disease;2022-03-07

2. Disorders of Branched-Chain Amino Acid Metabolism;Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases;2022

3. 3‐Hydroxyisobutyrate dehydrogenase ( HIBADH ) deficiency—A novel disorder of valine metabolism;Journal of Inherited Metabolic Disease;2021-07-05

4. Organic Acidemias and Disorders of Fatty Acid Oxidation;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2021

5. Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review;Journal of Pediatrics Review;2018-09-30