Results 121 to 130 of about 1,505 (162)
Severe Familial Hypophosphatemic Rickets
American Journal of Diseases of Children, 1970 In 1966, one of us (E.J.S.) reported the case of a 19-month-old boy in whom familial hypophosphatemic vitamin D resistant rickets (VDRR) was diagnosed on the first day of life. 1 Starting at age 3 months, when his disease was demonstrated to be severe, he received vitamin D in therapeutic doses. Normal growth ensued; at 19 months the child's height was
E J, Schoen, J B, Reynolds
openaire +3 more sources
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Hearing impairment in familial X-linked hypophosphatemic rickets
European Journal of Pediatrics, 2004Hearing impairment in patients with X-linked dominant hypophosphatemic rickets (XLH) is likely part of the natural history of the disease, developing during adulthood. Therefore, whereas close follow up and hearing monitoring is recommended in adults, serial audiograms in children with XLH are not justified. Furthermore, in a child with XLH and hearing
Gadi Fishman, Uri S Alon, Alon Uri S
exaly +3 more sources
Familial Glucocorticoid Deficiency in a Girl With Familial Hypophosphatemic Rickets
Archives of Pediatrics & Adolescent Medicine, 1988 Familial glucocorticoid deficiency is a rare multisystem disorder characterized by glucocorticoid deficiency with normal mineralocorticoid activity, achalasia of the cardia, and alacrima. Familial hypophosphatemic rickets is characterized by selective renal phosphate wasting with subsequent hypophosphatemia and an inappropriately low 1,25 ...
B R, Shah +3 more
openaire +3 more sources
Genetic analysis of three families with X-linked dominant hypophosphatemic rickets
Journal of Pediatric Endocrinology and Metabolism, 2018 Abstract Background Hypophosphatemic rickets, including familial hypophosphatemic vitamin D-resistant rickets, which commonly manifests in childhood, is generally hereditary. X-linked dominant hypophosphatemic rickets (XLH, MIM307800), caused by inactivating mutations in the PHEX gene, is the most ...
Xinfu Lin +3 more
openaire +3 more sources
FAMILIAL HYPOPHOSPHATEMIC VITAMIN D RESISTANT RICKETS
Acta Paediatrica, International Journal of Paediatrics, 1969SummarySurvey of all available data of infants with familial hypophosphatemia vitamin D resistant rickets observed partially or throughout the first year of life indicates that hypophosphatemia begins in the neonatal period regardless of whether or not the mother had been treated with vitamin D in high doses.
Gunnar B Stickler
exaly +3 more sources
Familial Hypophosphatemia (Familial Hypophosphatemic Rickets)
, 1979 W.G. BEAMER, E.M. EICHER, L.D. COWGILL
openaire +2 more sources
FGF23 analysis of a Chinese family with autosomal dominant hypophosphatemic rickets
Journal of Bone and Mineral Metabolism, 2011Autosomal dominant hypophosphatemic rickets (ADHR; MIM 193100) is a hereditary disorder characterized by isolated renal phosphate wasting, hypophosphatemia, and inappropriately normal 1,25-dihydroxyvitamin D(3) levels. Recent studies have shown that the fibroblast growth factor 23 (FGF23) gene is responsible for this disease.
Yue, Sun +9 more
openaire +2 more sources
Parathyroid Hormone Status and Renal Responsiveness in Familial Hypophosphatemic Rickets
The Journal of Clinical Endocrinology & Metabolism, 1975Basal serum and urinary biochemical parameters and their response to PTH or calcium infusion were examined in 14 untreated patients with familial hypophosphatemic rickets (FHR) from 5 kindreds and 9 normal control subjects after a period of dietary equilibration.
T J, Hahn +5 more
openaire +2 more sources
Clinical approach in familial hypophosphatemic rickets: report of three generations
Special Care in Dentistry, 2012ABSTRACTFamilial hypophosphatemic rickets is a hereditary disease characterized by the involvement of several family members, transmitted in most cases as an X‐linked dominant trait. Oral manifestations can be the first evidences for an adequate and early diagnosis of X‐linked hypophosphatemic rickets (XLHR).
Eduardo Costa Studart, Soares +4 more
openaire +2 more sources