Title : Identification and targeted management of a neurodegenerative disorder caused by biallelic mutations in SLC5A6.

Pub. Date : 2019

PMID : 31754459






2 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 SMVT is an important transporter of the B-group vitamins biotin, pantothenate, and lipoate. vitamin A, vitamin E, vitamin K3 drug combination solute carrier family 5 member 6 Homo sapiens
2 Recognition of the genetic disorder caused by SLC5A6 mutations is essential for early diagnosis and to facilitate timely intervention by triple vitamin (biotin, pantothenate, and lipoate) replacement therapy. vitamin A, vitamin E, vitamin K3 drug combination solute carrier family 5 member 6 Homo sapiens