Fanconi-Bickel Syndrome and Autosomal Recessive Proximal Tubulopathy with Hypercalciuria (ARPTH) Are Allelic Variants Caused by GLUT2 Mutations
نویسندگان
چکیده
منابع مشابه
Fanconi-Bickel syndrome and autosomal recessive proximal tubulopathy with hypercalciuria (ARPTH) are allelic variants caused by GLUT2 mutations.
CONTEXT Many inherited disorders of calcium and phosphate homeostasis are unexplained at the molecular level. OBJECTIVE The objective of the study was to identify the molecular basis of phosphate and calcium abnormalities in two unrelated, consanguineous families. PATIENTS The affected members in family 1 presented with rickets due to profound urinary phosphate-wasting and hypophosphatemic ...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2012
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2012-1279