Autosomal Recessive Hypophosphatemic Rickets Type 2 (ARHR2) due to ENPP1-deficiency.
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DOI: 10.1016/j.bone.2021.116111
Abstract: Awareness for hypophosphatemic rickets has increased in the last years, based on the availability of specific medical treatments. Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare form of hypophosphatemic rickets, which is known… read more here.
Keywords: type arhr2; recessive hypophosphatemic; hypophosphatemic rickets; autosomal recessive ... See more keywords
Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population
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DOI: 10.3389/fendo.2022.887371
Abstract: Background Vitamin D-dependant rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by pathogenic variants in the CYP27B1 gene. This gene is essential for vitamin D activation. Although VDDR1A is a rare condition… read more here.
Keywords: founder; vitamin dependant; dependant rickets; vitamin ... See more keywords
Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study
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DOI: 10.3389/fped.2022.1007219
Abstract: Purpose Vitamin D-dependent rickets type 1A (VDDR1A) is a rare autosomal recessive disorder caused by deficiency of the CYP27B1 gene. This study aims to investigate the phenotypic and genotypic features of VDDR1A children in southern… read more here.
Keywords: long term; dependent rickets; vitamin dependent; diagnosis ... See more keywords
Delayed diagnosis in Vitamin D-dependent rickets type II results in severe skeletal deformities.
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DOI: 10.47391/jpma.5266
Abstract: Vitamin D-dependent Rickets Type II (VDDR-II) is a rare autosomal recessive disorder caused by a vitamin D receptor gene mutation, leading to end-organ resistance to 1,25-dihydroxyvitamin D 1,25(OH)2D. We aimed to investigate two cases of… read more here.
Keywords: dependent rickets; vitamin dependent; diagnosis; vitamin ... See more keywords