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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1992 | 1 |
1993 | 1 |
2000 | 1 |
2007 | 1 |
2017 | 1 |
2022 | 1 |
2023 | 1 |
2024 | 0 |
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7 results
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Page 1
Carnitine-acylcarnitine translocase deficiency caused by SLC25A20 gene heterozygous variants in twins: a case report.
J Int Med Res. 2023 Apr;51(4):3000605231163811. doi: 10.1177/03000605231163811.
J Int Med Res. 2023.
PMID: 37115522
Free PMC article.
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.
Yan HM, et al.
Medicine (Baltimore). 2017 Nov;96(45):e8549. doi: 10.1097/MD.0000000000008549.
Medicine (Baltimore). 2017.
PMID: 29137068
Free PMC article.
Review.
Item in Clipboard
Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts.
Pande SV, Brivet M, Slama A, Demaugre F, Aufrant C, Saudubray JM.
Pande SV, et al.
J Clin Invest. 1993 Mar;91(3):1247-52. doi: 10.1172/JCI116288.
J Clin Invest. 1993.
PMID: 8450053
Free PMC article.
Item in Clipboard
Carnitine-acylcarnitine translocase deficiency in three neonates presenting with rapid deterioration and cardiac arrest.
Lee RS, Lam CW, Lai CK, Yuen YP, Chan KY, Shek CC, Chan AY, Chow CB.
Lee RS, et al.
Hong Kong Med J. 2007 Feb;13(1):66-8.
Hong Kong Med J. 2007.
PMID: 17277394
Free article.
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Whole exome sequencing analysis in a couple with three children who died prematurely due to carnitine-acylcarnitine translocase deficiency.
Tran VK, Diep QM, Qiu Z, Le TP, Do LD, Tran HA, Bui TH, Ta TV, Tran TH.
Tran VK, et al.
Taiwan J Obstet Gynecol. 2022 Jan;61(1):153-156. doi: 10.1016/j.tjog.2021.11.027.
Taiwan J Obstet Gynecol. 2022.
PMID: 35181030
Free article.
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Familial neonatal SIDS revealing carnitine-acylcarnitine translocase deficiency.
Nuoffer JM, de Lonlay P, Costa C, Roe CR, Chamoles N, Brivet M, Saudubray JM.
Nuoffer JM, et al.
Eur J Pediatr. 2000 Jan-Feb;159(1-2):82-5. doi: 10.1007/pl00013810.
Eur J Pediatr. 2000.
PMID: 10653336
Free article.
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Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane.
Stanley CA, Hale DE, Berry GT, Deleeuw S, Boxer J, Bonnefont JP.
Stanley CA, et al.
N Engl J Med. 1992 Jul 2;327(1):19-23. doi: 10.1056/NEJM199207023270104.
N Engl J Med. 1992.
PMID: 1598097
Free article.
No abstract available.
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