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6. Carnitine-acylcarnitine translocase deficiency: Two neonatal cases with common splicing mutation and in vitro bezafibrate response. Vatanavicharn N; Yamada K; Aoyama Y; Fukao T; Densupsoontorn N; Jirapinyo P; Sathienkijkanchai A; Yamaguchi S; Wasant P Brain Dev; 2015 Aug; 37(7):698-703. PubMed ID: 25459972 [TBL] [Abstract][Full Text] [Related]
7. Carnitine-acylcarnitine translocase deficiency with c.199-10 T>G and novel c.1A>G mutation: Two case reports and brief literature review. Yan HM; Hu H; Ahmed A; Feng BB; Liu J; Jia ZJ; Wang H Medicine (Baltimore); 2017 Nov; 96(45):e8549. PubMed ID: 29137068 [TBL] [Abstract][Full Text] [Related]
12. A neonatal death due to medium-chain acyl-CoA dehydrogenase deficiency: utilization of the neonatal metabolic screen in a functional approach to sudden unexplained infant death. Manoukian AA; Ha CE; Seaver LH; Bhagavan NV Am J Forensic Med Pathol; 2009 Sep; 30(3):284-6. PubMed ID: 19696588 [TBL] [Abstract][Full Text] [Related]
13. Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life. Boles RG; Buck EA; Blitzer MG; Platt MS; Cowan TM; Martin SK; Yoon H; Madsen JA; Reyes-Mugica M; Rinaldo P J Pediatr; 1998 Jun; 132(6):924-33. PubMed ID: 9627580 [TBL] [Abstract][Full Text] [Related]
14. Carnitine-acylcarnitine translocase deficiency: implications in human pathology. Pande SV; Murthy MS Biochim Biophys Acta; 1994 Jul; 1226(3):269-76. PubMed ID: 8054358 [No Abstract] [Full Text] [Related]
15. Post-mortem MRI reveals CPT2 deficiency after sudden infant death. Bouchireb K; Teychene AM; Rigal O; de Lonlay P; Valayannopoulos V; Gaudelus J; Sellier N; Bonnefont JP; Brivet M; de Pontual L Eur J Pediatr; 2010 Dec; 169(12):1561-3. PubMed ID: 20661589 [TBL] [Abstract][Full Text] [Related]
16. Clinical and molecular characteristics of carnitine-acylcarnitine translocase deficiency: Experience with six patients in Guangdong China. Tang C; Liu S; Wu M; Lin S; Lin Y; Su L; Zhang J; Feng Y; Huang Y Clin Chim Acta; 2019 Aug; 495():476-480. PubMed ID: 31108048 [TBL] [Abstract][Full Text] [Related]
17. [Analysis of four carnitine-acylcarnitine translocase deficiency cases caused by homozygous mutation of SLC25A20 c.199-10T> G]. Fan X; Xie BB; Zhang Q; Yi S; Geng GX; Yang Q; Luo JS; Wang J; Li C; Chen SK; Shen YP Zhonghua Er Ke Za Zhi; 2018 Jul; 56(7):545-549. PubMed ID: 29996190 [No Abstract] [Full Text] [Related]
18. [Sudden and unexpected death in a young child. 'Crib death' in an older child]. Wierenga H; Smit GP Tijdschr Kindergeneeskd; 1993 Jun; 61(3):93-6. PubMed ID: 8211942 [TBL] [Abstract][Full Text] [Related]
19. Retrospective review of Japanese sudden unexpected death in infancy: the importance of metabolic autopsy and expanded newborn screening. Yamamoto T; Tanaka H; Kobayashi H; Okamura K; Tanaka T; Emoto Y; Sugimoto K; Nakatome M; Sakai N; Kuroki H; Yamaguchi S; Matoba R Mol Genet Metab; 2011 Apr; 102(4):399-406. PubMed ID: 21227726 [TBL] [Abstract][Full Text] [Related]
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