Results 171 to 180 of about 1,777 (209)
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DIAGNOSTICS AND ENZYME REPLACEMENT THERAPY OF CHILDHOOD-ONSET HYPOPHOSPHATASIA IN A 5-YEAR-OLD BOY
Pediatria. Journal named after G.N. Speransky, 2021The article presents a clinical case report of hypophosphatasia, a rare congenital genetically determined disease diagnosed in a boy at the age of 3 years and 6 months. The diagnostic search took more than 2 years before the correct diagnosis was made, which is explained by the rarity of the disease and the lack of doctors awareness about it.
M.K. Soboleva, E.A. Maslova
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Nederlands tijdschrift voor geneeskunde, 1997
Hypophosphatasia was diagnosed in two boys aged four months and two years. This is a rare hereditary bone disease characterized by deficient activity of enzyme alkaline phosphatase. Increased levels of substrates of this enzyme are found: phosphoethanolamine in urine and pyridoxal phosphate in serum.
A L, Mulder +3 more
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Hypophosphatasia was diagnosed in two boys aged four months and two years. This is a rare hereditary bone disease characterized by deficient activity of enzyme alkaline phosphatase. Increased levels of substrates of this enzyme are found: phosphoethanolamine in urine and pyridoxal phosphate in serum.
A L, Mulder +3 more
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Childhood hypophosphatasia. A case report.
The New York state dental journal, 1997Hypophosphatasia is a hereditary disease that can present as premature exfoliation of deciduous dentition in young children. We present a case of a 32-month-old female with a history of skeletal problems who spontaneously exfoliated three mandibular primary teeth.
M, Ramer, R, Basta, K, Fisher
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[Hyperphosphatasia and hypophosphatasia in childhood].
Der Orthopade, 2009The treatment of phosphate diabetes and hyperphosphatasia requires an interdisciplinary therapy concept between paediatricians and orthopaedic surgeons. The surgical challenge is the correction of the multiplanar bending deformities and the pathological fractures.
P, Drees +4 more
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Asfotase alfa treatment for 1 year in a 16 year-old male with severe childhood hypophosphatasia
Osteoporosis International, 2017We describe the clinical outcome of asfotase alfa therapy in a 16-year-old boy with severe childhood hypophosphatasia (HPP), who began therapy at age 15 years. The patient was diagnosed with HPP at age 2 years when he presented with genu varum and premature loss of primary teeth.
S A, Bowden, B H, Adler
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The Journal of Clinical Endocrinology & Metabolism, 1983
Alkaline phosphatase (AP) activity was assayed by a sensitive fluorometric method, using 4-methylumbelliferyl phosphate as substrate, in homogenates of confluent skin fibroblasts from 17 patients with the infantile, childhood, or adult form of hypophosphatasia and compared to the AP activity in 22 sex- and age-matched control cell lines.
M P, Whyte, L A, Vrabel, T D, Schwartz
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Alkaline phosphatase (AP) activity was assayed by a sensitive fluorometric method, using 4-methylumbelliferyl phosphate as substrate, in homogenates of confluent skin fibroblasts from 17 patients with the infantile, childhood, or adult form of hypophosphatasia and compared to the AP activity in 22 sex- and age-matched control cell lines.
M P, Whyte, L A, Vrabel, T D, Schwartz
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Infantile and childhood hypophosphatasia: Spectrum of radiologic findings
2010Purpose: Although Hypophosphatasia 1,2 (HPP) is a rare inherited disorder of bone mineralisation, it should be included in the differential diagnosis of inflammatory bone disorders in children.
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Childhood hypophosphatasia with myopathy: clinical report with recent update.
Acta reumatologica portuguesa, 2014Hypophosphatasia is a rare genetic disease with low tissue nonspeficic alkaline phosphatase activity (TNSALP), due to ALPL gene mutation. There are 6 clinical forms. Childhood form is caractherized by short stature, premature loss of decidous teeth and diffuse bone pain associated with a pathological bone fracture in the past.
I, Silva +3 more
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[Childhood hypophosphatasia: a case report due to a novel mutation].
Archives de pediatrie : organe officiel de la Societe francaise de pediatrie, 2004Hypophosphatasia is characterized by defective bone mineralization associated with impaired activity of the tissue non-specific alkaline phosphatase (TNSALP) due to mutations in the TNSALP gene. We describe a child with a mutation that has not been described up to now.A 4-year-old child presented with clinical symptoms of rickets and premature loss of ...
C, Draguet, Y, Gillerot, E, Mornet
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Childhood hypophosphatasia and the premature loss of teeth
Oral Surgery, Oral Medicine, Oral Pathology, 1973John Beumer +3 more
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