Results 131 to 140 of about 1,505 (162)
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Familial hypophosphatemic rickets with proximal renal tubular acidosis
Journal of Bone and Mineral Metabolism, 1990We have experienced 3 case of familial hypophosphatemic rickets with proximal renal tubular acidosis. Consisting of a family of 2 years old girl, 7 months old girl baby and their father aged 42 years. Roentgenological studies, biochemical tests on blood and renal function tests revealed hypophosphatemia in all these patients.
Youichi Koide +8 more
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[Familial hypophosphatemic rickets].
Orvosi hetilap, 2002Familiar hypophosphatemic rickets (FHR) is characterized by isolated defect of renal phosphate reabsorption, hypophosphataemia, rickets and poor growth. In untreated cases parathyroid hormone and calcitriol levels are normal. FHR is caused by mutations of the PHEX gene encoding a zinc-binding metalloprotease enzyme.
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[Surgical treatment of familial hypophosphatemic rickets].
Chirurgia narzadow ruchu i ortopedia polska, 1995In 20 children with tibial and femoral bones deformities due to hypophosphatemic rickets a corrective osteotomy/osteoclasis at 2 or 4 sites was performed. Both preoperative and postoperative pharmacological treatment was introduced. Good results were achieved in 13 cases, satisfactory an 4 and bad in 3 cases.
K, Rapała +3 more
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[Spontaneous dental abscesses in familial hypophosphatemic rickets].
Nederlands tijdschrift voor tandheelkunde, 2012Symptoms 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 +3 more
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Hypophosphatemic familial rickets
Seminars in Roentgenology, 1973John F. Holt, Andrew K. Poznanski
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[Molecular aspects of familial hypophosphatemic rickets].
Medycyna wieku rozwojowego, 2000Familial 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
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Oral manifestations of hyperparathyroidism secondary to familial hypophosphatemic rickets.
Pediatric dentistry, 2015A 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 +4 more
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Nephrocalcinosis, Hyperparathyroidism, and Renal Failure in Familial Hypophosphatemic Rickets
Clinical Pediatrics, 1992U, Alon, H B, Lovell, D L, Donaldson
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Familial hypophosphatemic vitamin D-resistant rickets
The Journal of Pediatrics, 1972openaire +2 more sources
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency
Bone, 2021Jakob Höppner +2 more
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