Results 11 to 20 of about 3,700 (196)
Case Reports in Pediatrics, 2020 Infants presenting with multiple fractures without a plausible accident history need to be evaluated for child abuse or underlying predisposing conditions such as osteogenesis imperfecta and hypophosphatasia.
Kasra Zarei +4 more
doaj +2 more sources
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
doaj +3 more sources
Infantile Hypophosphatasia: Clinical Case
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
doaj +3 more sources
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
doaj +2 more sources
A Rare Case of Neonatal Hypophosphatasia: A Case Report [PDF]
Iranian Journal of Neonatology, 2018 Hypophosphatasia is a rare hereditary disorder of bone metabolism.In this article, we presented the case of a male infant with a soft skull and short, deformed limbs at birth, followed by seizures and respiratory distress during admission in the neonatal
Nasim Pouralizadeh +2 more
doaj +2 more sources
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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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
doaj +3 more sources
HYPOPHOSPHATASIA IN ADULTS: CLINICAL CASES AND LITERATURE REVIEW
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
doaj +4 more sources
Journal of Medical Case Reports, 2019 Background Hypophosphatasia is an inherited bone disease characterized by low alkaline phosphatase activity encoded by ALPL. Clinically, hypophosphatasia can be categorized as perinatal, infantile, childhood, and adult forms, as well as odonto ...
Kazunori Fukushima +8 more
doaj +2 more sources
Neurological and Neurosurgical Aspects of Hypophosphatasia
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
doaj +3 more sources