Associated Papers
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
41516090 (PubMed )
Supplement: ijms-27-00206-s001.zip › Supplementary_Table_S2__Tabassum_et_al.xlsx › Table_S2A
Congenital Glucose-Galactose Malabsorption Presenting as Hypertriglyceridemia and Medullary Nephrocalcinosis.
Goel M et al.
Pediatric Reports, 2025
Congenital Diarrhoea In A Neonate With Hypernatraemia And Dehydration.
Kaleem A et al.
Jpma. the Journal of the Pakistan Medical Association, 2023
The Molecular Basis of Glucose Galactose Malabsorption in a Large Swedish Pedigree.
Lostao MP et al.
Function (oxford, England), 2021
Identification of a disulfide bridge linking the fourth and the seventh extracellular loops of the Na+/glucose cotransporter.
Gagnon DG et al.
The Journal of General Physiology, 2006
Molecular basis for glucose-galactose malabsorption.
Wright EM et al.
Cell Biochemistry and Biophysics, 2002
Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects.
Lam JT et al.
Biochimica Et Biophysica Acta, 1999
Neutralization of conservative charged transmembrane residues in the Na+/glucose cotransporter SGLT1.
Panayotova-Heiermann M et al.
Biochemistry, 1998
Defects in Na+/glucose cotransporter (SGLT1) trafficking and function cause glucose-galactose malabsorption.
Martín MG et al.
Nature Genetics, 1996
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