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Atypical manifestation of carnitine palmitoyltransferase 1A deficiency: hepatosplenomegaly and nephromegaly.
- Source :
-
Journal of pediatric gastroenterology and nutrition [J Pediatr Gastroenterol Nutr] 2015 Mar; Vol. 60 (3), pp. e19-22. - Publication Year :
- 2015
- Subjects :
- Carnitine O-Palmitoyltransferase genetics
Dietary Carbohydrates therapeutic use
Dietary Supplements
Disease Progression
Family Health
Frameshift Mutation
Humans
Hypertrophy
Hypoglycemia diet therapy
Hypoglycemia genetics
Hypoglycemia pathology
Infant
Lipid Metabolism, Inborn Errors diet therapy
Lipid Metabolism, Inborn Errors genetics
Lipid Metabolism, Inborn Errors pathology
Male
Mutation, Missense
Republic of Korea
Treatment Outcome
Triglycerides chemistry
Triglycerides therapeutic use
Carnitine O-Palmitoyltransferase deficiency
Hepatomegaly etiology
Hypoglycemia physiopathology
Kidney pathology
Lipid Metabolism, Inborn Errors physiopathology
Splenomegaly etiology
Subjects
Details
- Language :
- English
- ISSN :
- 1536-4801
- Volume :
- 60
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Journal of pediatric gastroenterology and nutrition
- Publication Type :
- Academic Journal
- Accession number :
- 23969540
- Full Text :
- https://doi.org/10.1097/MPG.0b013e3182a95a42