Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: Identification of a novel variant-Reference-Cited by-同舟云学术

Characterization of the molecular spectrum of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in a Greek newborns cohort: Identification of a novel variant

Published:2012-10 Issue:15 Volume:45 Page:1167-1172
ISSN:0009-9120
Container-title:Clinical Biochemistry
language:en
Short-container-title:Clinical Biochemistry

Author:

Thodi Georgia,Georgiou Vassiliki,Molou Elina,Loukas Yannis L.,Dotsikas Yannis,Biti Sofia,Papadopoulos Konstantinos,Doulgerakis Emmanuel

Publisher

Elsevier BV

Subject

Clinical Biochemistry,General Medicine

Reference21 articles.

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2. Medium-chain acyl-CoA dehydrogenase deficiency: molecular aspects;Matsubara;Eur J Pediatr,1992

3. Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency;Wilcken;Arch Dis Child,1993

4. A clinical guide to inherited metabolic diseases;Clarke,2004

5. Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening;Hsu;Pediatrics,2008

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1. LC-MS simultaneous profiling of acyl-CoA and acyl-carnitine in dynamic metabolic status;Analytica Chimica Acta;2024-11

2. Quantitation and evaluation of perinatal medium-chain and long-chain acylcarnitine blood concentrations in 12,000 full-term breastfed newborns;Journal of Pediatric Endocrinology and Metabolism;2021-06-24

3. Hawkinsinuria in two unrelated Greek newborns: identification of a novel variant, biochemical findings and treatment;Journal of Pediatric Endocrinology and Metabolism;2016-01-01

4. Oxidized phosphatidylcholines suggest oxidative stress in patients with medium-chain acyl-CoA dehydrogenase deficiency;Talanta;2015-07

5. Medium-Chain Acyl-CoA Deficiency: Outlines from Newborn Screening,In SilicoPredictions, and Molecular Studies;The Scientific World Journal;2013