Results 151 to 160 of about 3,965 (174)
Some of the next articles are maybe not open access.
American Journal of Medical Genetics, 1990
AbstractWe report on two brothers with renal hypophosphatemia, intracerebral calcifications, minor facial anomalies, and short distal phalanges. The children presented with recurrent dental abscesses; one had premature closure of the anterior fontanelle.
D, Chitayat +7 more
openaire +2 more sources
AbstractWe report on two brothers with renal hypophosphatemia, intracerebral calcifications, minor facial anomalies, and short distal phalanges. The children presented with recurrent dental abscesses; one had premature closure of the anterior fontanelle.
D, Chitayat +7 more
openaire +2 more sources
X-linked hypophosphatemia osteomalacia : about 2 families
2012Les ostéomalacies secondaires à une fuite rénale du phosphate regroupent plusieurs entités dont le syndrome de Fanconi, l'ostéomalacie oncogénique, l'acidose tubulaire et l'hypophosphatémie familiale vitaminorésistante. Les formes héréditaires sont rares, nous rapportons le cas de 2 familles présentant une ostéomalacie hypophosphorémique vitamino ...
openaire +1 more source
Vnitrni lekarstvi, 2010
Hypercalcemia and hypophosphatemia are symptoms of two relatively rare hereditary diseases and are extraordinarily important from the standpoint of the differential diagnosis. Mutation in calcium sensing receptor gene (CaSR) clinically manifests as familial hypocalciuric hypercalcemia (FHH) or as the much more serious neonatal hyperparathyreosis ...
openaire +2 more sources
Hypercalcemia and hypophosphatemia are symptoms of two relatively rare hereditary diseases and are extraordinarily important from the standpoint of the differential diagnosis. Mutation in calcium sensing receptor gene (CaSR) clinically manifests as familial hypocalciuric hypercalcemia (FHH) or as the much more serious neonatal hyperparathyreosis ...
openaire +2 more sources
The Journal of Bone & Joint Surgery, 1964
The regulation of vitamin-D dosage in resistant rickets (familial or essential hypophosphatemia) is best accomplished by measuring the twenty-four-hour urinary calcium output against the curve of normal excretion. For such comparison the subject's weight and a fairly close estimate of calcium intake are also necessary.
openaire +2 more sources
The regulation of vitamin-D dosage in resistant rickets (familial or essential hypophosphatemia) is best accomplished by measuring the twenty-four-hour urinary calcium output against the curve of normal excretion. For such comparison the subject's weight and a fairly close estimate of calcium intake are also necessary.
openaire +2 more sources
New England Journal of Medicine, 1962
W G, BLACKARD, R R, ROBINSON, J E, WHITE
openaire +2 more sources
W G, BLACKARD, R R, ROBINSON, J E, WHITE
openaire +2 more sources
Familial Hypophosphatemia (Familial Hypophosphatemic Rickets)
1979W.G. BEAMER, E.M. EICHER, L.D. COWGILL
openaire +1 more source
Management of Familial Hypophosphatemia in Pregnancy
Endocrine Abstracts, 2019Tolulope Shonibare, Kofi Yamoah
openaire +1 more source