Zobrazeno 1 - 10
of 1 634
pro vyhledávání: '"carnitine deficiency"'
Autor:
Jinfu Zhou, Guilin Li, Yinglin Zeng, Xiaolong Qiu, Peiran Zhao, Ting Huang, Xi Wang, Jinying Luo, Na Lin, Liangpu Xu
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Abstract Background Primary carnitine deficiency (PCD) is a rare autosomal recessive fatty acid oxidation disorder caused by variants in SLC22A5, with its prevalence and SLC22A5 gene mutation spectrum varying across races and regions. This study aime
Externí odkaz:
https://doaj.org/article/ef41a74edb3e453691cd5ddcfb0451d9
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 9, Pp n/a-n/a (2024)
ABSTRACT Background Newborn screening (NBS) for primary carnitine deficiency (PCD) has poor performance. This study aimed to evaluate the feasibility of incorporating next‐generation sequencing (NGS) as a second‐tier PCD test. Methods Between Mar
Externí odkaz:
https://doaj.org/article/0ae98d0428444a30af497efe952235f1
Publikováno v:
Heliyon, Vol 10, Iss 13, Pp e33581- (2024)
Background: Primary Carnitine Deficiency (PCD) is a potentially life-threatening autosomal recessive monogenic disorder arising from mutations in the organic cation transporter 2 (OCTN2) gene. Dilated cardiomyopathy (DCM) is a prevalent symptom assoc
Externí odkaz:
https://doaj.org/article/64521b7efdf143048497a6a088388f51
Autor:
Amir Ghaffari Jolfayi, Niloofar Naderi, Serwa Ghasemi, Alireza Salmanipour, Sara Adimi, Majid Maleki, Samira Kalayinia
Publikováno v:
BMC Cardiovascular Disorders, Vol 24, Iss 1, Pp 1-11 (2024)
Abstract Background Primary carnitine deficiency (PCD) denotes low carnitine levels with an autosomal recessive pattern of inheritance. Cardiomyopathy is the most common cardiac symptom in patients with PCD, and early diagnosis can prevent complicati
Externí odkaz:
https://doaj.org/article/8f8f56202bda48dea0593a5490d12308
Publikováno v:
JIMD Reports, Vol 64, Iss 6, Pp 453-459 (2023)
Abstract Primary carnitine deficiency (PCD) can be lethal. Carnitine is essential for the transfer of long‐chain fatty acids across the inner mitochondrial membrane for β‐oxidation. The reported prevalence of PCD in the Faroe Islands of 1:300 is
Externí odkaz:
https://doaj.org/article/5d36e297b4c347a7b177a05794e1fc54
Autor:
Adefisayo, Modinat Adebukola1,2, Adeyemi, Wale Johnson3, Alabi, Quadri Kunle1,2,4 alabikunlequadri@gmail.com
Publikováno v:
Canadian Journal of Physiology & Pharmacology. 2018, Vol. 96 Issue 8, p830-838. 9p. 1 Color Photograph, 4 Charts, 4 Graphs.
Autor:
Alghamdi, Abdulrahman1,2, Almalki, Hani1,2, Shawli, Aiman1,2,3, Waggass, Rahaf1,2,4, Hakami, Fahad1,2,5 HakamiFM@ngha.med.sa
Publikováno v:
Pediatric Reports. 2018, Vol. 10 Issue 2, p39-42. 4p.
Autor:
Clark, M. A.1 marie.clark@uhhospitals.org, Stein, R. E. K.2, Silver, Ellen J.2, Khalid, Sabeen3, Fuloria, M.2, Esteban-Cruciani, N. V.2
Publikováno v:
Journal of Neonatal - Perinatal Medicine. 2017, Vol. 10 Issue 4, p381-386. 6p. 2 Black and White Photographs, 1 Graph.
Autor:
Youssef, S. F.1 Sabbah.farouk@yahoo.com, Abd El-Halim, H. A. H.1, Wahba, Fatma A.2, Abd El-Maged, Marwa H.1
Publikováno v:
Egyptian Poultry Science Journal. Dec2017, Vol. 37 Issue 4, p1273-1289. 15p.
Publikováno v:
Egyptian Journal of Sheep & Goats Sciences. Aug2017, Vol. 12 Issue 2, p1-10. 10p.