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Muscle Carnitine Palmitoyltransferase II (CPT II) Deficiency: A Conceptual Approach.
Joshi PR, Zierz S. Joshi PR, et al. Molecules. 2020 Apr 13;25(8):1784. doi: 10.3390/molecules25081784. Molecules. 2020. PMID: 32295037 Free PMC article. Review.
There is a lethal neonatal form, a severe infantile hepato-cardio-muscular form, and a rather mild myopathic form characterized by exercise-induced myalgia, weakness, and myoglobinuria. Total CPT activity (CPT I + CPT II) in muscles of CP …
There is a lethal neonatal form, a severe infantile hepato-cardio-muscular form, and a rather mild myopathic …
Carnitine palmitoyltransferase II deficiency with a focus on newborn screening.
Tajima G, Hara K, Yuasa M. Tajima G, et al. J Hum Genet. 2019 Feb;64(2):87-98. doi: 10.1038/s10038-018-0530-z. Epub 2018 Dec 4. J Hum Genet. 2019. PMID: 30514913 Review.
Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid oxidation disorder. ...We diagnosed the disease in four young children presenting with symptoms of the muscle form, whose values for the new …
Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid oxidatio …