52 citations
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August 1993 in “Clinical endocrinology” This study found that intravenous high dose calcium infusions followed by high dose oral calcium effectively treated vitamin D dependent rickets type II, leading to complete biochemical and radiological healing and improved growth in two patients.
100 citations
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October 1986 in “Clinical Endocrinology” This study found that alopecia in hereditary resistance to 1,25(OH)2D may indicate a more severe form of the condition, associated with earlier diagnosis and different responses to calciferol therapy.
50 citations
,
October 1986 in “European journal of pediatrics” This case study reported that absence of alopecia does not reliably predict responsiveness to vitamin D treatment in Vitamin D-dependent rickets type II, as demonstrated by a patient with normal hair growth who showed extreme resistance.
81 citations
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March 1985 in “Journal of Clinical Investigation” This study found that measuring 24-OHase induction by 1,25(OH)2D3 in cultured skin fibroblasts is a sensitive test for detecting genetic defects in the 1,25(OH)2D effector pathway.
110 citations
,
November 1984 in “The American Journal of Medicine” This study observed that children with a genetically transmitted defect in the 1,25-dihydroxyvitamin D3 receptor experienced spontaneous healing of rickets as they aged, despite persistent mineral imbalances during treatment.
88 citations
,
October 1983 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, distinct clinical responses and long-term resistances were observed in two pediatric patients with vitamin D-dependency type II, associated with abnormalities in their skin fibroblast interactions with 1,25-(OH)2D3.
82 citations
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April 1981 in “Clinical endocrinology” This study describes a case of vitamin D resistant rickets in a young girl due to end organ unresponsiveness, highlighting a possible new subtype of the disorder with distinct clinical features.