Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening-Reference-Cited by-同舟云学术

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening

Published:2010-11-20 Issue:1 Volume:34 Page:185-195
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Sykut-Cegielska Jolanta,Gradowska Wanda,Piekutowska-Abramczuk Dorota,Andresen Brage S.,Olsen Rikke K. J.,Ołtarzewski Mariusz,Pronicki Maciej,Pajdowska Magdalena,Bogdańska Anna,Jabłońska Ewa,Radomyska Barbara,Kuśmierska Katarzyna,Krajewska-Walasek Małgorzata,Gregersen Niels,Pronicka Ewa

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://www.springerlink.com/index/pdf/10.1007/s10545-010-9244-x

Reference34 articles.

1. Chalmers RA, Lawson AM (1975) Human metabolic diseases. Chem Brit 11:290–295

2. Das AM, Illsinger S, Lücke T et al. (2006) Isolated mitochondrial long-chain ketoacyl-CoA thiolase deficiency resulting from mutations in the HADHB gene. Clin Chem 52:530–534

3. den Boer ME, Ijlst L, Wijburg FA et al. (2000) Heterozygosity for the common LCHAD mutation (1528 G > C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low. Pediatr Res 48:151–154

4. den Boer ME, Wanders RJ, Morris AA, IJlst L, Heymans HS, Wijburg FA (2002) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics 109:99–104

5. Dionisi-Vici C, Bertini E, Burlina A et al. (1990) Neuromuscular involvement in two unrelated children with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency. Pediatr Res 28:305

Cited by 30 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. New Acylcarnitine Ratio as a Reliable Indicator of Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency;International Journal of Neonatal Screening;2023-08-25

2. Genetic diversity in Kashubs: the regional increase in the frequency of several disease-causing variants;Journal of Applied Genetics;2022-08-15

3. Reconstructed glycosylase base editors GBE2.0 with enhanced C-to-G base editing efficiency and purity;Molecular Therapy;2022-07

4. A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency;Molecular Genetics and Metabolism Reports;2022-06

5. Dobór przestrzenny, religijny oraz narodowościowy małżeństw i tożsamość Kaszubów w kontekście choroby genetycznej;Etnografia Polska;2021-12-18