The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: Clinical presentation and outcome-Reference-Cited by-同舟云学术

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The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: Clinical presentation and outcome

Published:2006-05 Issue:5 Volume:148 Page:665-670.e3
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Derks Terry G.J.,Reijngoud Dirk-Jan,Waterham Hans R.,Gerver Willem-Jan M.,van den Berg Maarten P.,Sauer Pieter J.J.,Smit G. Peter A.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology and Child Health

Reference37 articles.

1. Mitochondrial fatty acid oxidation disorders;Roe,2001

2. Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria;Gregersen;Clin Chim Acta,1976

3. The inborn errors of mitochondrial fatty acid oxidation;Vianey-Liaud;J Inherit Metab Dis,1987

4. Medium-chain acyl-CoA dehydrogenase deficiency;Touma;Arch Dis Child,1992

5. Medium-chain acyl-coenzyme A dehydrogenase deficiency;Iafolla;J Pediatr,1994

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1. Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study;European Journal of Paediatric Neurology;2024-03

2. Stealthy progression of type 2 diabetes mellitus due to impaired ketone production in an adult patient with multiple acyl-CoA dehydrogenase deficiency;Molecular Genetics and Metabolism Reports;2024-03

3. Plasma lipidomics analysis reveals altered profile of triglycerides and phospholipids in children with Medium‐Chain Acyl‐CoA dehydrogenase deficiency;Journal of Inherited Metabolic Disease;2024-02-14

4. All exons are not created equal—exon vulnerability determines the effect of exonic mutations on splicing;Nucleic Acids Research;2024-02-07

5. Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency;BMC Pediatrics;2024-01-13

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