Carnitine palmitoyltransferase 1A deficiency: abnormal muscle biopsy findings in a child presenting with Reye’s syndrome
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10545-017-0041-7/fulltext.html
Reference5 articles.
1. Britton CH, Mackey DW, Esser V et al (1997) Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPT1A and CPT1B). Genomics 40:209–211
2. Fingerhut R, Röschinger W, Muntau AC et al (2001) Hepatic carnitine palmitoyltransferase I deficiency: acylcarnitine profiles in blood spots are highly specific. Clin Chem 47:1763–1768
3. Haworth J, Demaugre F, Booth F et al (1992) Atypical features of the hepatic form of carnitine palmitoyl- transferase deficiency in a Hutterite family. J Pediatr 121:553–557
4. Lee BH, Kim YM, Kim JH et al (2015) Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegaly. J Pediatr Gastroenterol Nutr 60:e19–e22
5. Olpin SE, Allen J, Bonham JR et al (2001) Features of carnitine palmitoyltransferase type I deficiency. J Inherit Metab Dis 24:35–42
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