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Rickets and osteomalacia in Saudi children and adolescents attending endocrine clinic, Riyadh, Saudi Arabia.

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This is a retrospective study in which we report our clinical experience during the period from January 1990 to December 2009, from a paediatric endocrine clinic at King Khalid University Hospital (KKUH), Riyadh, Saudi Arabia. The diagnosis of rickets and oestomalacia was based on clinical,

Nutritional rickets and osteomalacia in school children and adolescents.

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OBJECTIVE To review experiences of nutritional rickets and osteomalacia in school children and adolescents at King Khalid University Hospital, Riyadh, Kingdom of Saudi Arabia. METHODS Records of children and adolescents aged 6-18 years, seen at King Khalid University Hospital, Riyadh, Kingdom of

FGF23 analysis of a Chinese family with autosomal dominant hypophosphatemic rickets.

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Autosomal 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

Therapeutic management of hypophosphatemic rickets from infancy to adulthood.

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In children, hypophosphatemic rickets (HR) is revealed by delayed walking, waddling gait, leg bowing, enlarged cartilages, bone pain, craniostenosis, spontaneous dental abscesses, and growth failure. If undiagnosed during childhood, patients with hypophosphatemia present with bone and/or joint pain,

Neurological symptoms in Hypophosphatasia.

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Hypophosphatasia (HPP) typically manifests with fractures, tooth loss, and muscle pain. Although mental health diagnoses and neurological symptoms have not been previously well documented in HPP, they occur commonly. The recognition of non-traditional symptoms may improve patient satisfaction,

Spot the silent sufferers: A call for clinical diagnostic criteria for solar and nutritional osteomalacia.

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Osteomalacia and rickets result from defective mineralization when the body is deprived of calcium. Globally, the main cause of osteomalacia is a lack of mineral supply for bone modeling and remodeling due to solar vitamin D and/or dietary calcium deficiency. Osteomalacia occurs when existing bone

Phosphate, the renal tubule, and the musculoskeletal system.

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A component of ATP, phosphate is at the hub of the energy-related mechanisms operative in muscle cells. Together with calcium, phosphate is involved in bone tissue mineralization: thus, a chronic alteration in the metabolism of phosphate can induce bone and joint disorders. Diagnosis of chronic

Tertiary hyperparathyroidism attributable to long-term oral phosphate therapy.

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OBJECTIVE To report a rare case of tertiary hyperparathyroidism (HPT) as a result of long-term oral phosphate therapy. METHODS We present a case report, with a focus on clinical manifestations and biochemical findings during the course of tertiary HPT, and discuss the pathophysiologic features of

Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy.

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Hypophosphatasia (HPP) is a rare inherited systemic metabolic disease caused by mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. TNSALP is expressed in the liver, kidney and bone, and its substrates include TNSALP inorganic pyrophosphate, pyridoxal-5'-phosphate

Influence of age and gender on presentation of symptomatic primary hyperparathyroidism.

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BACKGROUND The geographical difference in presentation of primary hyperparathyroidism (PHPT) is known. However, there is sparse literature on the influence of age and gender on presentation of PHPT. OBJECTIVE To analyze the effect of age and gender on presentation of symptomatic primary

Vitamin D deficiency in immigrants.

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Vitamin D deficiency and rickets are more common in non-western immigrants and refugees than in the native population. Severe vitamin D deficiency (serum 25-hydroxyvitamin D <25 nmol/l) may occur in up to 50% of children and adults of non-western origin. They are not used to sunshine exposure due

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