Atypical Manifestation of Carnitine Palmitoyltransferase 1A Deficiency-Reference-Cited by-同舟云学术

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Atypical Manifestation of Carnitine Palmitoyltransferase 1A Deficiency

Published:2015-03 Issue:3 Volume:60 Page:e19-e22
ISSN:0277-2116
Container-title:Journal of Pediatric Gastroenterology & Nutrition
language:en
Short-container-title:

Author:

Lee Beom Hee,Kim Yoo-Mi,Kim Ja Hye,Kim Gu-Hwan,Kim Jae-Min,Kim Joo Hyun,Woo Kyu Ha,Yang Song Hyun,Kim Chong Jai,Choi In-Hee,Yoo Han-Wook

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Gastroenterology,Pediatrics, Perinatology, and Child Health

Reference7 articles.

1. Carnitine palmitoyltransferase deficiencies.;Bonnefont;Mol Genet Metab,1999

2. Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific.;Fingerhut;Clin Chem,2001

3. Prevalence and distribution of the c.1436CT sequence variant of carnitine palmitoyltransferase 1A among Alaska native infants.;Gessner;J Pediatr,2011

4. Impaired fasting tolerance among Alaska native children with a common carnitine palmitoyltransferase 1A sequence variant.;Gillingham;Mol Genet Metab,2011

5. Novel mutations in CPT 1A define molecular heterogeneity of hepatic carnitine palmitoyltransferase I deficiency.;Bennett;Mol Genet Metab,2004

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1. A different perspective into clinical symptoms in CPT I deficiency;Molecular Genetics and Metabolism Reports;2024-03

2. A Different Perspective into Clinical Symptoms in Cpt I Deficiency;2023

3. Novel mutation in carnitine palmitoyltransferase 1A detected through newborn screening for a presymptomatic case in China: a case report;Italian Journal of Pediatrics;2021-07-07

4. Mitochondrial pyruvate and fatty acid flux modulate MICU1-dependent control of MCU activity;Science Signaling;2020-04-21

5. Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening;BMC Pediatrics;2018-03-08

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