Results 211 to 220 of about 6,701 (243)
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Current Osteoporosis Reports, 2016
Hypophosphatasia is a rare disorder due to a mutation in the ALPL gene encoding the alkaline phosphatase (ALP) leading to a diminished activity of the enzyme in bone, liver, and kidney. Hypophosphatasia is a heterogeneous disease, ranging from extreme life-threatening forms revealed at birth in young infants presenting with severely impaired bone ...
Agnès, Linglart, Martin, Biosse-Duplan
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Hypophosphatasia is a rare disorder due to a mutation in the ALPL gene encoding the alkaline phosphatase (ALP) leading to a diminished activity of the enzyme in bone, liver, and kidney. Hypophosphatasia is a heterogeneous disease, ranging from extreme life-threatening forms revealed at birth in young infants presenting with severely impaired bone ...
Agnès, Linglart, Martin, Biosse-Duplan
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Journal of the American Medical Association, 1958
1. A case of hypophosphatasia in a boy who sustained a fractured left femur is described. 2. The literature is reviewed, and the reported cases are found to fall into severe, moderately severe and mild forms. 3. The diagnostic features of the disease are the radiological picture, which resembles that of rickets, very low serum alkaline phosphatase ...
W, DICKSON, R H, HORROCKS
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1. A case of hypophosphatasia in a boy who sustained a fractured left femur is described. 2. The literature is reviewed, and the reported cases are found to fall into severe, moderately severe and mild forms. 3. The diagnostic features of the disease are the radiological picture, which resembles that of rickets, very low serum alkaline phosphatase ...
W, DICKSON, R H, HORROCKS
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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
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Wiener Medizinische Wochenschrift, 2020
Hypophosphatasia (HPP) is a rare disorder with perinatal, infantile, childhood, and adult presentations. Severe forms are autosomal recessive with an early onset, whereas milder forms have a later onset. The underlying cause of the disease is a mutation based on a genetic disorder of the tissue non-specific alkaline phosphatase (TNSALP) gene, leading ...
Sebastian Simon +2 more
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Hypophosphatasia (HPP) is a rare disorder with perinatal, infantile, childhood, and adult presentations. Severe forms are autosomal recessive with an early onset, whereas milder forms have a later onset. The underlying cause of the disease is a mutation based on a genetic disorder of the tissue non-specific alkaline phosphatase (TNSALP) gene, leading ...
Sebastian Simon +2 more
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Seminars in Arthritis and Rheumatism, 2000
Publisher Summary Hypophosphatasia is the rare, heritable form of rickets or osteomalacia that features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia). Hypophosphatasemia in HPP is explained by a generalized reduction of activity of the “tissue-non-specific” isoenzyme of ALP (TNSALP) caused by loss-of-function mutation(s) within ...
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Publisher Summary Hypophosphatasia is the rare, heritable form of rickets or osteomalacia that features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia). Hypophosphatasemia in HPP is explained by a generalized reduction of activity of the “tissue-non-specific” isoenzyme of ALP (TNSALP) caused by loss-of-function mutation(s) within ...
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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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Hypophosphatasia with phenylketonuria
Zeitschrift f�r Kinderheilkunde, 1974Hypophosphatasia and phenylketonuria have been encountered in a 9-month-old male infant as two independent inborn errors of metabolism. The pathognomonic triad of bony demineralization, subnormal alkaline phosphatase levels and increased excretion of phosphoethanolamine established the diagnosis of hypophosphatasia.
Kenneth N. F. Shaw, Milan E. Blaskovics
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The American Journal of Medicine, 1960
Abstract Two sisters are presented, now aged forty-one and forty-two, whom we think represent adult survivors of hypophosphatasia, a disease hitherto only described in children. Both sisters had had "rickets" in childhood, from which they had made a spontaneous recovery.
C.E. Dent, J.E. Bethune
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Abstract Two sisters are presented, now aged forty-one and forty-two, whom we think represent adult survivors of hypophosphatasia, a disease hitherto only described in children. Both sisters had had "rickets" in childhood, from which they had made a spontaneous recovery.
C.E. Dent, J.E. Bethune
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