Results 151 to 160 of about 2,043 (190)

Familial Hypophosphatemic Rickets: Defective Transport of Inorganic Phosphate by Intestinal Mucosa

Science, 1973
Uptake of inorganic phosphate is impaired in intestinal mucosa from hemizygous males and heterozygous females with X-linked familial hypophosphatemic rickets. Considerable intrafamilial and interfamilial variation in uptake of inorganic phosphate is observed in affected patients.
E M, Short, H J, Binder, L E, Rosenberg
openaire   +2 more sources

[Spontaneous dental abscesses in familial hypophosphatemic rickets].

Nederlands tijdschrift voor tandheelkunde, 2012
Symptoms of familial hypophosphatemic rickets are growth retardation, the formation of O- or X-legs, pain of the joints, spontaneous dental abscesses, and delayed tooth eruption. The dental symptoms are predominantly attributable to the demineralization of dentin. In absence of adequate preventive measurements,familial hypophosphatemic rickets may lead
T C T, van Riet, M H, Frank, K A, Hoeben, J, de Lange   +3 more
openaire   +1 more source

Hypophosphatemic familial rickets

Seminars in Roentgenology, 1973
John F. Holt, Andrew K. Poznanski
openaire   +1 more source

[Molecular aspects of familial hypophosphatemic rickets].

Medycyna wieku rozwojowego, 2000
Familial hypophosphataemic rickets (XLH) is an X-linked dominant disorder resulting in hypophosphataemia, abnormal regulation of 25-hydroxy vitamin D metabolism, elevated activity of alkaline phosphatase, bone deformities and short stature. In 1995-97 the sequence of PEX gene responsible for the disease was established. The PEX gene spreads 24.3 kb and
openaire   +1 more source

Oral manifestations of hyperparathyroidism secondary to familial hypophosphatemic rickets.

Pediatric dentistry, 2015
A 14-year-old male with familial hypophosphatemic rickets, being treated with oral phosphate and calcitriol therapy, presented to the Division of Pediatric Dentistry, Children's Hospital of Pittsburgh of the University of Pittsburgh Medical Center, Pittsburgh, Pa. A panoramic radiograph showed multifocal, multilocular lesions in the mandible leading to
Rebecca Glover, Andrews, Heather, Baumhardt, Brian, Martin, Dina, Belachew, Miguel, Reyes-Múgica   +4 more
openaire   +1 more source

Familial Hypophosphatemia (Familial Hypophosphatemic Rickets)

1979
W.G. BEAMER, E.M. EICHER, L.D. COWGILL
openaire   +1 more source

Familial hypophosphatemic vitamin D-resistant rickets

The Journal of Pediatrics, 1972
openaire   +2 more sources

Familial Hypophosphatemic Rickets

Clinical Pediatrics, 1976
openaire   +2 more sources

Loss of DMP1 causes rickets and osteomalacia and identifies a role for osteocytes in mineral metabolism

Nature Genetics, 2006
Jian Feng, Leanne M Ward, Yongbo Lu
exaly  

Growth in Familial Hypophosphatemic Rickets

New England Journal of Medicine, 1969
openaire   +1 more source