Associated Papers
SGLT5 is the renal transporter for 1,5-anhydroglucitol, a major player in two rare forms of neutropenia.
Diederich J et al.
Cellular and Molecular Life Sciences : Cmls, 2023
Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5.
Boulanger C et al.
Journal of Inherited Metabolic Disease, 2022
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.
Alkanderi S et al.
American Journal of Human Genetics, 2018
30269812 (PubMed )
Supplement: mmc1.pdf
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.
Long T et al.
Nature Genetics, 2017
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