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Acta Pathologica Japonica, 1982
An autopsy case of bypophosphatasia in lethal form in a fetus was reported. The female fetus of 40 gestational weeks was prenatally diagnosed as the specific type of congenital disease, because of no detection of calcification of whole bones by X‐ray examination.
S, Imai +4 more
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An autopsy case of bypophosphatasia in lethal form in a fetus was reported. The female fetus of 40 gestational weeks was prenatally diagnosed as the specific type of congenital disease, because of no detection of calcification of whole bones by X‐ray examination.
S, Imai +4 more
openaire +2 more sources
Current Opinion in Rheumatology, 2016
In adults, hypophosphatasia (HPP) may be revealed by fractures, mainly metatarsal and femoral, and by crystal-related joint diseases. Low alkaline phosphatase levels are often overlooked. There is no established treatment for adults but the diagnosis is important to prevent the use of therapies that promote bone resorption in this context of bone ...
Karine, Briot, Christian, Roux
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In adults, hypophosphatasia (HPP) may be revealed by fractures, mainly metatarsal and femoral, and by crystal-related joint diseases. Low alkaline phosphatase levels are often overlooked. There is no established treatment for adults but the diagnosis is important to prevent the use of therapies that promote bone resorption in this context of bone ...
Karine, Briot, Christian, Roux
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Southern Medical Journal, 1983
We have described a case of hypophosphatasia with a mild progressive course. This condition and its familial propensity may be more prevalent than recognized. Thus, family members of a patient with hypophosphatasia should be screened for this disorder. Enthusiastic pharmacologic, hormonal, and/or dietary supplemental therapy should be avoided.
Coto, Humberto, Douglas, John E.
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We have described a case of hypophosphatasia with a mild progressive course. This condition and its familial propensity may be more prevalent than recognized. Thus, family members of a patient with hypophosphatasia should be screened for this disorder. Enthusiastic pharmacologic, hormonal, and/or dietary supplemental therapy should be avoided.
Coto, Humberto, Douglas, John E.
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Archives de Pédiatrie, 2013
Hypophosphatasia (HPP) is a rare inherited disorder primarily affecting bone and dental mineralization. Although there is a continuum in the severity of the disease, clinical forms may be arbitrarily distinguished on the basis of age at onset and the presence or absence of bone symptoms: perinatal, infantile, juvenile, adult, prenatal benign, and ...
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Hypophosphatasia (HPP) is a rare inherited disorder primarily affecting bone and dental mineralization. Although there is a continuum in the severity of the disease, clinical forms may be arbitrarily distinguished on the basis of age at onset and the presence or absence of bone symptoms: perinatal, infantile, juvenile, adult, prenatal benign, and ...
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Revue medicale suisse, 2018
Hypophosphatasia (HPP) is an inborn metabolic bone disorder caused by loss-of-function mutations in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP). The adult form can be mistaken with common osteoporosis and/or present recurrent metatarsal fractures, skeletal and muscular pain.
Eleni, Tsiantouli +2 more
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Hypophosphatasia (HPP) is an inborn metabolic bone disorder caused by loss-of-function mutations in the gene encoding tissue nonspecific alkaline phosphatase (TNSALP). The adult form can be mistaken with common osteoporosis and/or present recurrent metatarsal fractures, skeletal and muscular pain.
Eleni, Tsiantouli +2 more
openaire +3 more sources
Pediatric endocrinology reviews : PER, 2013
Hypophosphatasia (HPP) is a rare, inherited, potentially life-threatening metabolic disorder that arises from loss-of-function mutations in the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). As a result of these mutations (as many as 260 genetic mutations have been associated with HPP), patients have disordered ...
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Hypophosphatasia (HPP) is a rare, inherited, potentially life-threatening metabolic disorder that arises from loss-of-function mutations in the gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). As a result of these mutations (as many as 260 genetic mutations have been associated with HPP), patients have disordered ...
openaire +1 more source