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Quoted phrase not found in phrase index: "Carnitine palmitoyl transferase II deficiency, myopathic form"
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Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey.
Joshi PR, Deschauer M, Zierz S. Joshi PR, et al. J Clin Neurosci. 2019 Jan;59:32-36. doi: 10.1016/j.jocn.2018.11.023. Epub 2018 Nov 16. J Clin Neurosci. 2019. PMID: 30455135
After the first attack [Mean: 9.7 (4.46) years], diagnosis took an average of 26.7 ( 13.06) years. In myopathic CPT II deficiency, frequencies of attacks are highly variable. Generally, the myopathic form is a mild form. However, severe p …
After the first attack [Mean: 9.7 (4.46) years], diagnosis took an average of 26.7 ( 13.06) years. In myopathic CPT II defi …
Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form.
Yazıcı H, Ak G, Çelik MY, Erdem F, Yanbolu AY, Er E, Bozacı AE, Güvenç MS, Aykut A, Durmaz A, Canda E, Uçar SK, Çoker M. Yazıcı H, et al. J Pediatr Endocrinol Metab. 2023 Nov 7;37(1):33-41. doi: 10.1515/jpem-2023-0298. Print 2024 Jan 29. J Pediatr Endocrinol Metab. 2023. PMID: 37925743
Three clinical phenotypes, lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form, have been described in CPT II deficiency. ...The study aimed to investigate the clinical features, biochemical, histopatholog …
Three clinical phenotypes, lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form, …