Report of two unrelated patients with hereditary vitamin D resistant rickets due to the same novel mutation in the vitamin D receptor

Journal of Pediatric Endocrinology and Metabolism

Volumn 24, Issue 9-10, 2011, Pages 793-799

  Aljubeh, Jamal M ^a   Wang, Jining ^b   Al Remeithi, Sareea S ^a   Malloy, Peter J ^b   Feldman, David ^b  

^a SHEIKH KHALIFA MEDICAL CITY   (United Arab Emirates)

^b STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Calcium; Hereditary vitamin D resistant rickets; Mutation; Rickets; Vitamin D receptor

Indexed keywords

25 HYDROXYVITAMIN D; ALFACALCIDOL; ALKALINE PHOSPHATASE; ANTIBIOTIC AGENT; CALCITRIOL; CALCIUM; CALCIUM GLUBIONATE; ERGOCALCIFEROL; MAGNESIUM SULFATE; PARATHYROID HORMONE; PHOSPHATE; SALBUTAMOL; VITAMIN D RECEPTOR;

ADD ON THERAPY; ANTIBIOTIC THERAPY; ARTICLE; BONE MINERALIZATION; CASE REPORT; DISEASE PREDISPOSITION; DRUG SUBSTITUTION; DRUG WITHDRAWAL; DYSPNEA; FAMILIAL HYPOPHOSPHATEMIC RICKETS; FEMALE; FEMUR FRACTURE; GROWTH RETARDATION; HUMAN; HYPOCALCEMIA; HYPOMAGNESEMIA; HYPOPHOSPHATEMIA; HYPOXIA; INFANT; LUNG INFECTION; MALE; MISSENSE MUTATION; MOTOR DEVELOPMENT; MUSCULOSKELETAL PAIN; OXYGEN SATURATION; SECONDARY HYPERPARATHYROIDISM; SUPPLEMENTATION; TACHYPNEA;

ARABS; BINDING SITES; DRUG RESISTANCE; FEMALE; HUMANS; INFANT; MALE; MUTATION, MISSENSE; RECEPTORS, CALCITRIOL; RICKETS; VITAMIN D;

EID: 80054065133     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/JPEM.2011.341     Document Type: Article

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