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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.
openaire +3 more sources
Advances in Therapy
First reported in 1948, hypophosphatasia (HPP) is a rare systemic disease caused by deficient activity of tissue-nonspecific alkaline phosphatase (ALP) enzyme.
Aliya A. Khan +4 more
semanticscholar +1 more source
First reported in 1948, hypophosphatasia (HPP) is a rare systemic disease caused by deficient activity of tissue-nonspecific alkaline phosphatase (ALP) enzyme.
Aliya A. Khan +4 more
semanticscholar +1 more source
American Journal of Medical Genetics. Part A
Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterized by low tissue‐nonspecific alkaline phosphatase activity due to ALPL gene variants.
P. Kishnani +10 more
semanticscholar +1 more source
Hypophosphatasia (HPP) is a rare, inherited metabolic disease characterized by low tissue‐nonspecific alkaline phosphatase activity due to ALPL gene variants.
P. Kishnani +10 more
semanticscholar +1 more source
Challenges in Hypophosphatasia: Suspicion, Diagnosis, Genetics, Management, and Follow-Up
Hormone Research in PaediatricsBackground: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function variants in the ALPL gene, leading to deficient tissue-nonspecific alkaline phosphatase (ALP) activity.
Rodrigo Montero-Lopez +4 more
semanticscholar +1 more source
Possible role of bone turnover markers in the diagnosis of adult hypophosphatasia
Journal of Bone and Mineral ResearchHypophosphatasia (HPP) is a rare disorder of the bone metabolism, characterized by genetically determined low alkaline phosphatase (ALP) activity. Low ALP may also be observed in some common causes of bone fragility, such as in osteoporosis treated with ...
Francesco Bertoldo +22 more
semanticscholar +1 more source
Nephrology (Saint-Petersburg), 2023
The article presents current literature data on clinical phenotypes and variants of ALPL gene mutations, the effectiveness of enzyme replacement therapy with asfotase alfa in children with hypophosphatasia (HPP). HPP is inherited disease ORPHA (436). The
N. Savenkova +2 more
semanticscholar +1 more source
The article presents current literature data on clinical phenotypes and variants of ALPL gene mutations, the effectiveness of enzyme replacement therapy with asfotase alfa in children with hypophosphatasia (HPP). HPP is inherited disease ORPHA (436). The
N. Savenkova +2 more
semanticscholar +1 more source
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 ...
openaire +2 more sources
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