Mitochondrial trifunctional protein deficiency: A severe fatty acid oxidation disorder with cardiac and neurologic involvement-Reference-Cited by-同舟云学术

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Mitochondrial trifunctional protein deficiency: A severe fatty acid oxidation disorder with cardiac and neurologic involvement

Published:2003-06 Issue:6 Volume:142 Page:684-689
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

den Boer Margarethe E.J.,Dionisi-Vici Carlo,Chakrapani Anupam,van Thuijl Anders O.J.,Wanders Ronald J.A.,Wijburg Frits A.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference25 articles.

1. Mitochondrial fatty acid oxidation disorders;Roe,2001

2. Human liver long-chain 3-hydroxyacyl-coenzyme A dehydrogenase is a multifunctional membrane-bound beta-oxidation enzyme of the mitochondria;Carpenter;Biochem Biophys Res Commun,1992

3. Novel fatty acid beta-oxidation enzymes in rat liver mitochondria, II: purification and properties of enoyl-coenzyme A (CoA) hydratase/3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase trifunctional protein;Uchida;J Biol Chem,1992

4. The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders;Millington;Prog Clin Biol Res,1992

5. Diagnosis of mitochondrial trifunctional protein deficiency in a bloodspot from the newborn screening card by tandem mass spectrometry and DNA analysis;Matern;Pediatr Res,1999

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1. Neurological outcome in long‐chain hydroxy fatty acid oxidation disorders;Annals of Clinical and Translational Neurology;2024-01-23

2. A tail of their own: regulation of cardiolipin and phosphatidylinositol fatty acyl profile by the acyltransferase LCLAT1;Biochemical Society Transactions;2023-09-22

3. Newborn Screening Conditions: Early Intervention and Probability of Developmental Delay;Journal of Developmental & Behavioral Pediatrics;2023-04-20

4. Trifunctional Protein Deficiency (TPD);Genetic Syndromes;2023

5. Neonatal Long-Chain 3-Ketoacyl-CoA Thiolase deficiency: Clinical-biochemical phenotype, sodium-D,L-3-hydroxybutyrate treatment experience and cardiac evaluation using speckle echocardiography;Molecular Genetics and Metabolism Reports;2022-06

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