Low C0 and normal C16 and C18:1 masking the diagnosis of carnitine palmitoyltransferase II deficiency including a novel CPT2 variant: A case report-Reference-Cited by-同舟云学术

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Low C0 and normal C16 and C18:1 masking the diagnosis of carnitine palmitoyltransferase II deficiency including a novel CPT2 variant: A case report

Published:2024-01 Issue:1 Volume:31 Page:85-88
ISSN:0929-693X
Container-title:Archives de Pédiatrie
language:en
Short-container-title:Archives de Pédiatrie

Author:

Wang Shuting^ORCID,Diao Chengming,Leng Junhong

Publisher

Elsevier BV

Reference11 articles.

1. Disorders of mitochondrial fatty acyl-CoA beta-oxidation;Wanders;J Inherit Metab Dis,1999

2. Long-chain fatty acid oxidation disorders and current management strategies;Vockley;Am J Manag Care,2020

3. Identification of 16 new disease-causing mutations in the CPT2 gene resulting in carnitine palmitoyltransferase II deficiency;Isackson;Mol Genet Metab,2006

4. Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity;Tajima;Mol Genet Metab,2017

5. Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry;Albers;Pediatrics,2001

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