Title : A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations.

Pub. Date : 2010 Dec 22

PMID : 21176162






1 Functional Relationships(s)
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1 CONCLUSION: Our cases broaden the phenotypic spectrum of disorders associated with SLC19A3 mutations and highlight the potential benefit of biotin and/or thiamin treatments and the need to assess the clinical efficacy of these treatments. Thiamine solute carrier family 19 member 3 Homo sapiens