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Quoted phrase not found in phrase index: "Carnitine palmitoyl transferase II deficiency, neonatal form"
Page 1
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
OBJECTIVES: Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of long-chain fatty acid oxidation. Three clinical phenotypes, lethal neonatal form, severe infantile hepatocardiomuscular form, a …
OBJECTIVES: Carnitine palmitoyltransferase II (CPT II) deficiency is an autosomal recessive disorder of long-cha …
Acute Respiratory Infection Unveiling CPT II Deficiency.
Blah N, Sudrié-Arnaud B, Torre S, Marret S, Bekri S, Tebani A. Blah N, et al. Int J Mol Sci. 2018 Sep 27;19(10):2950. doi: 10.3390/ijms19102950. Int J Mol Sci. 2018. PMID: 30262761 Free PMC article.
Carnitine Palmitoyl transferase 2 (CPT II) is involved in long-chain fatty-acid mitochondrial transport. Three clinical phenotypes of CPT II deficiency have been described: Lethal neonatal onset, infantile severe form, and t …
Carnitine Palmitoyl transferase 2 (CPT II) is involved in long-chain fatty-acid mitochondrial transport. Three c …
Carnitine palmitoyltransferase II (CPT II) deficiency responsible for refractory cardiac arrhythmias, acute multiorgan failure and early fatal outcome.
Serra G, Antona V, Insinga V, Morgante G, Vassallo A, Placa S, Piro E, Salerno S, Schierz IAM, Gitto E, Giuffrè M, Corsello G. Serra G, et al. Ital J Pediatr. 2024 Apr 14;50(1):67. doi: 10.1186/s13052-024-01632-x. Ital J Pediatr. 2024. PMID: 38616285 Free PMC article.
BACKGROUND: Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inborn error of mitochondrial fatty acid metabolism with autosomal recessive pattern of inheritance. ...Neonatal form is the most severe, and all the reported pat …
BACKGROUND: Carnitine palmitoyltransferase II (CPT II) deficiency is a rare inborn error of mitochondrial fatty …