Results 11 to 20 of about 1,523 (155)
Orphanet Journal of Rare Diseases, 2007 Hypophosphatasia is a rare inherited disorder characterized by defective bone and teeth mineralization, and deficiency of serum and bone alkaline phosphatase activity. The prevalence of severe forms of the disease has been estimated at 1/100 000.
Mornet Etienne
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The Turkish Journal of Pediatrics, 1958 Here then is another disorder in which hypercalcaemia is the most prominent biochemical result. It carries with it the risk of renal damage, which may at times prove fatal.
Bernard Schlesinger
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Hypophosphatasia in Taiwan: Report of Two Cases
Kaohsiung Journal of Medical Sciences, 2005 Hypophosphatasia is a rare inherited metabolic disease characterized by rickets with reduced plasma and tissue alkaline phosphatase activity. It may be present in infancy, childhood, or adulthood.
Yen-Yin Chou +2 more
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Childhood hypophosphatasia: to treat or not to treat
Orphanet Journal of Rare Diseases, 2018 Background Hypophosphatasia (HPP) is a rare inborn error of metabolism that results from dysfunction of the tissue non-specific alkaline phosphatase enzyme. Its manifestations are extremely variable, ranging from early lethality to disease limited to the
Eric T. Rush
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Infantile Hypophosphatasia: Clinical Case [PDF]
Вопросы современной педиатрии, 2020 Background. Hypophosphatasia is rare hereditary disease caused by deficiency of the tissue-nonspecific alkaline phosphatase isozyme. It manifests with bone and teeth mineralisation defects, electrolyte imbalance, respiratory disorders, convulsive ...
Tatyana V. Gabrusskaya +3 more
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A rare mutation in hypophosphatasia: a case report of adult form and review of the literature
Archives of Endocrinology and Metabolism, 2019 SUMMARY Hypophosphatasia is a rare inborn error of metabolism characterized by low serum alkaline phosphatase activity due to loss-of-function mutations in the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Extracellular
Francisco Galeano-Valle +2 more
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An Unusual Stress Fracture in an Archer with Hypophosphatasia [PDF]
Case Reports in Orthopedics, 2013 We report a 45-year-old male archer with stress fracture in his left ulna on the background of adult type of hypophosphatasia. The patient presented to several medical centers for pain around the left elbow and received medical treatment upon diagnosis ...
Umut Yavuz +6 more
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HYPOPHOSPHATASIA IN ADULTS: CLINICAL CASES AND LITERATURE REVIEW [PDF]
Остеопороз и остеопатии, 2015 Hypophosphatasia is a rare inborn error of metabolism caused by mutations in the gene encoding tissue-nonspecific isoenzyme of alkaline phosphatase. Inexpressive clinical picture of the disease in adults is often difficult to diagnose.
S S Rodionova +4 more
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Neurological and Neurosurgical Aspects of Hypophosphatasia [PDF]
Педиатрическая фармакология, 2018 Hypophosphatasia is a rare hereditary progressive disease caused by a mutation in ALPL gene and characterized by low activity of alkaline phosphatase.
Vadim P. Ivanov +5 more
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Modern Approaches to the Management of Children with Hypophosphatasia
Педиатрическая фармакология, 2023 Hypophosphatasia is rare genetic disease caused by tissue-nonspecific alkaline phosphatase deficiency due to the mutation in the ALPL gene. Disease can manifest in utero, in childhood or in adults depending on its form and severity. This article presents
Aleksander A. Baranov +22 more
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