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Revisiting hypophosphatemic rickets/osteomalacia.
Best Pract Res Clin Endocrinol Metab
March 2024
Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, Maharashtra 40012, India.
Mutation analysis of the GLUT2 gene in three unrelated Egyptian families with Fanconi-Bickel syndrome: revisited gene atlas for renumbering.
Clin Exp Nephrol
August 2012
Department of Pediatrics, Genetics Unit, Mansoura University Children's Hospital (MUCH), 31 Bank Misr Street, Mansoura 35516, Egypt.
Background: Fanconi-Bickel syndrome (FBS) is an autosomal recessive disorder caused by defects in the facilitative glucose transporter 2 (GLUT2 or SLC2A2) gene which codes for the glucose transporter protein 2 expressed in hepatocytes and renal tubular cells causing a defect in carbohydrate metabolism, hepatomegaly, severe hypophosphatemic rickets and failure to thrive.
Subjects And Methods: Among 17 unrelated Egyptian families with heritable renal tubular acidosis, three families clinically suspected as FBS were enrolled for this study after providing written informed consent. The three families had positive consanguinity and index cases with characteristic clinical features of FBS (hepatorenal glycogen accumulation, glucose and galactose intolerance, fasting hypoglycemia, a characteristic tubular nephropathy).
Osteomalacia revisited : a report on 28 cases.
Clin Rheumatol
May 2011
Metabolic Bone Diseases Unit, Service of Rheumatology, Hospital Clínic, University of Barcelona, Villarroel 170, 08036, Barcelona, Spain.
The aim of this study was to analyse the clinical manifestations and the most frequent causes of osteomalacia (OM) in a group of 28 patients diagnosed with this disorder during a 20-year period. OM was diagnosed by bone biopsy and/or by Bingham and Fitzpatrick criteria (two of the following: low calcium, low phosphate, elevated total alkaline phosphatase [total AP] or suggestive radiographs). Of these patients, 13 had vitamin D deficiency OM (VD-OM), 14 hypophosphatemic OM (HypoP-OM) and one had OM-associated hypophosphatasia.
View Article and Find Full Text PDFThe dentino-enamel junction revisited.
Connect Tissue Res
April 2003
Laboratoire de Biologie et Physiopathologie Crânio-faciales, EA 2496, Université Paris V, rue Maurice Arnoux, 92120 Montrouge, France.
The dentino-enamel junction is not an simple inert interface between two mineralized structures. A less simplistic view suggests that the dentino-enamel junctional complex should also include the inner aprismatic enamel and the mantle dentin. At early stages of enamel formation, fibroblast growth factor (FGF)-2 is stored in and released from the inner aprismatic enamel, possibly under the control of matrix metalloproteinase (MMP)-3.
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