Deafness, Encephalopathy, and Lactic Acidosis: What If It Was an Inborn Metabolic Error?-Reference-Cited by-同舟云学术

Deafness, Encephalopathy, and Lactic Acidosis: What If It Was an Inborn Metabolic Error?

Published:2023-10 Issue:10 Volume:69 Page:1200-1203
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

Germain Nicolas¹^ORCID,Vaudran Lucie²,Guemann Anne-Sophie³,Benoist Jean-François⁴,Dessein Anne-Frédérique¹

Affiliation:

1. University of Lille, CHU Lille, Centre de Biologie Pathologie Génétique, UF Métabolisme Général et Maladies Rares , F-59000 Lille , France

2. CHU Lille, Centre de Biologie Pathologie Génétique, UF Métabolisme Général et Maladies Rares , F-59000 Lille , France

3. CHU Lille, Centre de Référence des Maladies Héréditaires du Métabolisme , F-59000 Lille , France

4. Service de biochimie métabolique, hôpital universitaire Necker Enfants Malades, APHP, LIP(sys)2 Faculté de Pharmacie, Université Paris Saclay , Paris , France

Publisher

Oxford University Press (OUP)

Subject

Biochemistry (medical),Clinical Biochemistry

Link

https://academic.oup.com/clinchem/article-pdf/69/10/1200/51823412/hvad114.pdf

Reference5 articles.

1. The novel mutation p.Asp251Asn in the β-subunit of succinate-CoA ligase causes encephalomyopathy and elevated succinylcarnitine;Jaberi;J Hum Genet,2013

2. SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness;Carrozzo;Brain,2007

3. Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients;Carrozzo;JIMD,2016

4. A novel SUCLA2 mutation presenting as a complex childhood movement disorder;Garone;J Child Neurol,2017

5. Causes of and diagnostic approach to methylmalonic acidurias;Fowler;J Inherit Metab Dis,2008