Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges
Author:
Publisher
MDPI AG
Subject
Obstetrics and Gynaecology,Immunology and Microbiology (miscellaneous),Pediatrics, Perinatology, and Child Health
Link
http://www.mdpi.com/2409-515X/1/3/79/pdf
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1. Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria
2. Mitochondrial Fatty Acid Oxidation Disorders;Roe,2001
3. The epidemiology of medium chain acyl-CoA dehydrogenase deficiency: An update
4. Medium–chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children
5. Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis
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1. Free carnitine concentrations and biochemical parameters in medium‐chain acyl‐CoA dehydrogenase deficiency: Genotype–phenotype correlation;Clinical Genetics;2023-03-13
2. Recent Advances in the Pathophysiology of Fatty Acid Oxidation Defects: Secondary Alterations of Bioenergetics and Mitochondrial Calcium Homeostasis Caused by the Accumulating Fatty Acids;Frontiers in Genetics;2020-11-27
3. Clinical and biochemical outcomes of patients with medium-chain acyl-CoA dehydrogenase deficiency;Molecular Genetics and Metabolism;2020-01
4. A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry;Clinical Biochemistry;2018-04
5. MCAD-Deficiency with Severe Neonatal Onset, Fatal Outcome and Normal Acylcarnitine Profile;International Journal of Neonatal Screening;2017-08-17
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