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Year | Number of Results |
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2014 | 1 |
2021 | 1 |
2024 | 0 |
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Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases.
Mol Genet Metab. 2014 Aug;112(4):259-74. doi: 10.1016/j.ymgme.2014.05.011. Epub 2014 May 29.
Mol Genet Metab. 2014.
PMID: 24953403
Review.
Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.
Grünert SC, Foster W, Schumann A, Lund A, Pontes C, Roloff S, Weinhold N, Yue WW, AlAsmari A, Obaid OA, Faqeih EA, Stübbe L, Yamamoto R, Gemperle-Britschgi C, Walter M, Spiekerkoetter U, Mackinnon S, Sass JO.
Grünert SC, et al.
Biochimie. 2021 Apr;183:55-62. doi: 10.1016/j.biochi.2021.02.003. Epub 2021 Feb 14.
Biochimie. 2021.
PMID: 33596448
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