Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency-Reference-Cited by-同舟云学术

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Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency

Published:2020-01 Issue:1 Volume:129 Page:13-19
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Anderson Daniela R.,Viau Krista,Botto Lorenzo D.,Pasquali Marzia,Longo Nicola

Publisher

Elsevier BV

Subject

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

Reference24 articles.

1. Morbidity and mortality among exclusively breastfed neonates with medium-chain acyl-CoA dehydrogenase deficiency;Ahrens-Nicklas;Genet Med,2016

2. Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York state;Arnold;Mol. Genet. Metab.,2010

3. 221 newborn-screened neonates with medium-chain acyl-coenzyme a dehydrogenase deficiency: findings from the inborn errors of metabolism collaborative;Bentler;Mol. Genet. Metab.,2016

4. Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry;Chace;Clin. Chem.,1997

5. Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: regional experience and high incidence of carnitine deficiency;Couce;Orphanet J. Rare Dis.,2013

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1. Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews;2024-09-04

2. Hypoglycemia in a 4-day-old Girl;Pediatrics in Review;2024-03-01

3. Developmental, Familial, and Metabolic Disorders;Atlas of Liver Pathology;2024

4. Free carnitine concentrations and biochemical parameters in medium‐chain acyl‐CoA dehydrogenase deficiency: Genotype–phenotype correlation;Clinical Genetics;2023-03-13

5. Assessment of reference intervals of acylcarnitines in newborns in Siberia;Acta Biomedica Scientifica;2022-12-07

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