المؤلفون: Go Tajima, Keiichi Hara, Miyuki Tsumura, Reiko Kagawa, Fumiaki Sakura, Hideo Sasai, Miori Yuasa, Yosuke Shigematsu, Satoshi Okada

المصدر: International Journal of Neonatal Screening, Vol 9, Iss 4, p 62 (2023)

مصطلحات موضوعية: carnitine palmitoyltransferase II deficiency, CPT2, newborn screening, false-positive, tetradecanoylcarnitine (C14), dodecanoylcarnitine (C12), Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/9/4/62; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/e55e3a9b95ee4057b002d6fe371edfd1

المؤلفون: Mccormick Benjamin J., Chirila Razvan M.

المصدر: Romanian Journal of Internal Medicine, Vol 59, Iss 4, Pp 420-424 (2021)

مصطلحات موضوعية: carnitine palmitoyltransferase-ii deficiency, rhabdomyolysis, myopathy, Internal medicine, RC31-1245

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2501-062X

URL الوصول: https://doaj.org/article/54e9a29cbb3a4ba9b08e85c602d0b9b7

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Guo, Ya, Zhang, Yu, Liu, Peipei, Li, Fei, Xin, Dandan, He, Hongfang, Liu, Yedan, Yang, Chengqing, Chen, Zongbo^{Aff1, IDs12031019013482_cor9}

المصدر: Journal of Molecular Neuroscience. 69(2):188-196

المؤلفون: Ryosuke Bo, Ikuma Musha, Kenji Yamada, Hironori Kobayashi, Yuki Hasegawa, Hiroyuki Awano, Masato Arao, Toru Kikuchi, Takeshi Taketani, Akira Ohtake, Seiji Yamaguchi, Kazumoto Iijima

المصدر: Molecular Genetics and Metabolism Reports, Vol 24, Iss , Pp 100611- (2020)

مصطلحات موضوعية: Carnitine palmitoyltransferase II deficiency, Metabolic decompensation, Fatty acid oxidation disorders, Sudden unexpected death in infancy (SUDI), Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920300574; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/648da91c2b0e415b87c3fbf0b6e34607

المؤلفون: Benjamin J. Mccormick, Razvan M. Chirila

المصدر: Romanian Journal of Internal Medicine, Vol 59, Iss 4, Pp 420-424 (2021)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Signs and symptoms, Disease, Case presentation, 03 medical and health sciences, 0302 clinical medicine, Recurrence, Internal medicine, medicine, Humans, 030212 general & internal medicine, Carnitine, Myopathy, Exercise, Carnitine O-Palmitoyltransferase, business.industry, carnitine palmitoyltransferase-ii deficiency, Middle Aged, medicine.disease, RC31-1245, rhabdomyolysis, Treatment strategy, Carnitine palmitoyltransferase II deficiency, medicine.symptom, business, Rhabdomyolysis, Metabolism, Inborn Errors, 030217 neurology & neurosurgery, myopathy, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e106a41da67285ee539a272431ab71a4
https://doi.org/10.2478/rjim-2021-0021

المؤلفون: Pitceathly, Robert D. S.^Aff4, Quinlivan, Rosaline^Aff4

المساهمون: Manji, Hadi, editor^Aff1, Turner, Chris, editor^Aff2, Evans, Matthew R. B., editor^Aff3

المصدر: Neuromuscular Disease : Case Studies from Queen Square. :211-213

Degree: MB, ChB
BSc(Hons), MBBS, DCH, FRCPCH

المؤلفون: Beate Meinhardt, Leila Motlagh Scholle, Franziska Seifert, Martina Anwand, Markus Pietzsch, Stephan Zierz

المصدر: International Journal of Molecular Sciences, Vol 22, Iss 9, p 4831 (2021)

مصطلحات موضوعية: carnitine palmitoyltransferase II, cardiolipin, thermostability, S113L, P50H, Y479F, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/22/9/4831; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/da9ef6ced4094f49a581428d7ee91885

المؤلفون: Yadav, Sakshi, Kabra, Madhulika, Gupta, Neerja^Aff1

المصدر: Journal of Fetal Medicine. 6(2):95-97

المؤلفون: Christina Zach, Karl Unterkofler, Peter Fraunberger, Heinz Drexel, Axel Muendlein

المصدر: Frontiers in Genetics, Vol 10 (2019)

مصطلحات موضوعية: carnitine palmitoyltransferase II deficiency, family study, mutation, underdiagnosis, pedigree, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2019.00497/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/3beaa37bd31e4b678bbc921b4c535257