Mutations underlying 3-Hydroxy-3-Methylglutaryl CoA Lyase deficiency in the Saudi population-Reference-Cited by-同舟云学术

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Mutations underlying 3-Hydroxy-3-Methylglutaryl CoA Lyase deficiency in the Saudi population

Published:2006-12 Issue:1 Volume:7 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Al-Sayed Moeenaldeen,Imtiaz Faiqa,Alsmadi Osama A,Rashed Mohammed S,Meyer Brian F

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/1471-2350-7-86.pdf

Reference27 articles.

1. Ashmarina LI PAV Branda SS, Isaya G, Mitchell GA: 3-Hydroxy-3-methylglutaryl coenzyme A lyase: targeting and processing in peroxisomes and mitochondria. J Lipid Res. 1999, 40 (1): 70-75.

2. Wysocki SJ HR: 3-Hydroxy-3-methylglutaryl-coenzyme a lyase deficiency: a review. J Inherit Metab Dis. 1986, 9 (3): 225-233. 10.1007/BF01799652.

3. Ozand PT DEB Gascon GG: Neurometabolic diseases at a national referral center: five years experience at the King Faisal Specialist Hospital and Research Centre. J Child Neurol. 1992, 7 Suppl: S4-11.

4. Muroi J YT Uematsu A, Shigematsu Y, Onigata K, Maruyama H, Nobutoki T, Kitamura A, Nakahata T: Molecular and clinical analysis of Japanese patients with 3-hydroxy-3-methylglutaryl CoA lyase (HL) deficiency. Hum Genet. 2000, 107 (4): 320-326. 10.1007/s004390000363.

5. Cardoso ML RMR Leao E, Martins E, Diogo L, Rodrigues E, Garcia P, Rolland MO, Vilarinho L: The E37X is a common HMGCL mutation in Portuguese patients with 3-hydroxy-3-methylglutaric CoA lyase deficiency. Mol Genet Metab. 2004, 82 (4): 334-338. 10.1016/j.ymgme.2004.06.003.

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1. Treatment of HMG-CoA Lyase Deficiency—Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases;Nutrients;2023-01-19

2. HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients;Frontiers in Genetics;2022-05-13

3. Hepatic Manifestations of 3-Hydroxy-3-Methylglutaryl-Coenzyme-A Lyase Deficiency in Saudi Patients: Experience of a Tertiary Care Center;Journal of Pediatric Genetics;2020-07-29

4. The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders;Orphanet Journal of Rare Diseases;2020-02-18

5. 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces;Orphanet Journal of Rare Diseases;2020-02-14

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