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Clinical presentation of adults with persistently low alkaline phosphatase activity: a retrospective multicentre, cross-sectional study in Germany. [PDF]
BMJ OpenHoff P +3 more
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Lifetime follow-up of an adult patient with pediatric-onset hypophosphatasia complicated with advanced chronic kidney disease. [PDF]
Bone RepSääf M +5 more
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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
+6 more sources
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
+6 more sources
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
openaire +3 more sources
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
openaire +3 more sources
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
openaire +2 more sources
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
Diagnosis and Treatment of Hypophosphatasia
Calcified Tissue InternationalHypophosphatasia (HPP) is a rare inherited metabolic disorder characterized by deficient activity of tissue-nonspecific alkaline phosphatase (TNAP) caused by variants in the ALPL gene.
L. Seefried +4 more
semanticscholar +1 more source
Dental manifestations of hypophosphatasia: translational and clinical advances
JBMR PlusHypophosphatasia (HPP) is an inherited error in metabolism resulting from loss-of-function variants in the ALPL gene, which encodes tissue-nonspecific alkaline phosphatase (TNAP). TNAP plays a crucial role in biomineralization of bones and teeth, in part
E. J. Lira dos Santos +3 more
semanticscholar +1 more source
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
openaire +3 more sources
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
openaire +3 more sources