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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2016 | 1 |
2017 | 1 |
2018 | 1 |
2019 | 2 |
2022 | 1 |
2024 | 0 |
PubMed (cited) for id: 618973
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A mild case of sodium-dependent multivitamin transporter (SMVT) deficiency illustrating the importance of treatment response in variant classification.
Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006185. doi: 10.1101/mcs.a006185. Print 2022 Feb.
Cold Spring Harb Mol Case Stud. 2022.
PMID: 35217562
Free PMC article.
Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.
Byrne AB, Arts P, Polyak SW, Feng J, Schreiber AW, Kassahn KS, Hahn CN, Mordaunt DA, Fletcher JM, Lipsett J, Bratkovic D, Booker GW, Smith NJ, Scott HS.
Byrne AB, et al.
NPJ Genom Med. 2019 Nov 14;4:28. doi: 10.1038/s41525-019-0103-x. eCollection 2019.
NPJ Genom Med. 2019.
PMID: 31754459
Free PMC article.
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Genetic defect of the sodium-dependent multivitamin transporter: A treatable disease, mimicking biotinidase deficiency.
Schwantje M, de Sain-van der Velden M, Jans J, van Gassen K, Dorrepaal C, Koop K, Visser G.
Schwantje M, et al.
JIMD Rep. 2019 May 28;48(1):11-14. doi: 10.1002/jmd2.12040. eCollection 2019 Jul.
JIMD Rep. 2019.
PMID: 31392107
Free PMC article.
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Biotin and pantothenic acid oversupplementation to conditional SLC5A6 KO mice prevents the development of intestinal mucosal abnormalities and growth defects.
Sabui S, Kapadia R, Ghosal A, Schneider M, Lambrecht NWG, Said HM.
Sabui S, et al.
Am J Physiol Cell Physiol. 2018 Jul 1;315(1):C73-C79. doi: 10.1152/ajpcell.00319.2017. Epub 2018 Apr 18.
Am J Physiol Cell Physiol. 2018.
PMID: 29669219
Free PMC article.
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Mutations in SLC5A6 associated with brain, immune, bone, and intestinal dysfunction in a young child.
Subramanian VS, Constantinescu AR, Benke PJ, Said HM.
Subramanian VS, et al.
Hum Genet. 2017 Feb;136(2):253-261. doi: 10.1007/s00439-016-1751-x. Epub 2016 Nov 30.
Hum Genet. 2017.
PMID: 27904971
Free PMC article.
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