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   Articles with "hypophosphatasia" as a keyword



Medical Management of Hypophosphatasia: Review of Data on Asfotase Alfa

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recommendations! Published in 2025 at "Current Osteoporosis Reports"

DOI: 10.1007/s11914-025-00906-5

Abstract: Hypophosphatasia (HPP) is a rare, dento-osseous disorder caused by impaired activity of tissue non-specific alkaline phosphatase (TNSALP), a key enzyme in tissue mineralization. This review provides a clinical perspective on the current medical treatment of… read more here.

Keywords: hpp; review; asfotase alfa; hypophosphatasia ... See more keywords

Mobility and Quality of Life in Adults with Paediatric-Onset Hypophosphatasia Treated with Asfotase Alfa: Results from UK Managed Access Agreement

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recommendations! Published in 2025 at "Advances in Therapy"

DOI: 10.1007/s12325-025-03168-w

Abstract: Hypophosphatasia (HPP) is a rare disease caused by deficient tissue–non-specific alkaline phosphatase (ALP) activity. Asfotase alfa is a tissue–non-specific ALP enzyme-replacement therapy which was reimbursed in the UK under a Managed Access Agreement (MAA). This… read more here.

Keywords: treatment; hypophosphatasia; mobility; alfa ... See more keywords

Hyperphosphatemia with low FGF7 and normal FGF23 and sFRP4 levels in the circulation characterizes pediatric hypophosphatasia.

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recommendations! Published in 2020 at "Bone"

DOI: 10.1016/j.bone.2020.115300

Abstract: Hypophosphatasia (HPP) is the inborn-error-of-metabolism caused by loss-of-function mutation(s) of the ALPL gene that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). TNSALP in healthy individuals is on cell surfaces richly in bone, liver, and… read more here.

Keywords: hypophosphatasia; fgf23 sfrp4; hyperphosphatemia low; hyperphosphatemia ... See more keywords
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Adult hypophosphatasia with a novel ALPL mutation: Report of an Indian kindred

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recommendations! Published in 2020 at "Bone Reports"

DOI: 10.1016/j.bonr.2020.100247

Abstract: Hypophosphatasia is an inborn error in metabolism characterized by low serum alkaline phosphatase (ALP) activity resulting from deactivating mutations in TNSALP (also known as ALPL), the gene that encodes the ‘tissue-specific’ isoenzyme of ALP. The… read more here.

Keywords: hypophosphatasia; report; adult hypophosphatasia; kindred adult ... See more keywords

Genetic characterization of a large cohort of individuals with a clinical suspicion of hypophosphatasia in the United States

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recommendations! Published in 2021 at "Molecular Genetics and Metabolism"

DOI: 10.1016/s1096-7192(21)00222-5

Abstract: Hypophosphatasia (HPP) is a rare inherited genetic condition caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase, resulting in decreased alkaline phosphatase (ALP) activity. ALP deficiency leads to impaired skeletal mineralization resulting… read more here.

Keywords: hypophosphatasia; genetic testing; cohort; alpl variants ... See more keywords

Genetic engineering a large animal model of human hypophosphatasia in sheep

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recommendations! Published in 2018 at "Scientific Reports"

DOI: 10.1038/s41598-018-35079-y

Abstract: The availability of tools to accurately replicate the clinical phenotype of rare human diseases is a key step toward improved understanding of disease progression and the development of more effective therapeutics. We successfully generated the… read more here.

Keywords: hypophosphatasia; animal model; large animal; bone ... See more keywords
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O01 Hypophosphatasia in adults at a specialist centre in the UK: the spectrum of musculoskeletal disease

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recommendations! Published in 2020 at "Rheumatology"

DOI: 10.1093/rheumatology/keaa110

Abstract: Hypophosphatasia (HPP) is a condition arising due to mutations in the gene encoding the tissue-non-specific alkaline phosphatase (TNSALP) isoenzyme (ALPL), leading to deficient activity of TNSALP. It can be inherited as an autosomal dominant or… read more here.

Keywords: hypophosphatasia; diagnosis; specialist centre; rheumatology ... See more keywords

Safety and efficacy of long term asfotase alfa treatment in childhood hypophosphatasia

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recommendations! Published in 2025 at "Italian Journal of Pediatrics"

DOI: 10.1186/s13052-025-01883-2

Abstract: Hypophosphatasia (HPP) is a rare inherited disorder characterized by a deficiency of tissue-non-specific alkaline phosphatase (TNSALP) due to loss-of-function variants of the ALPL gene. HPP is characterized by an extremely variable age of onset and… read more here.

Keywords: treatment; childhood; hypophosphatasia; long term ... See more keywords

SUN-739 Incidental Adult Hypophosphatasia

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recommendations! Published in 2025 at "Journal of the Endocrine Society"

DOI: 10.1210/jendso/bvaf149.689

Abstract: Abstract Disclosure: S. Rajoo: None. N. Mohd Makhatar: None. S.D. Simanchalam: None. Hypophosphatasia (HPP) in adult is a rare genetic metabolic bone disorder. Detection of this disorder is low in adult population as its symptoms… read more here.

Keywords: hpp; adult; hypophosphatasia; 739 incidental ... See more keywords

MON-495 Hypophosphatasia: A Rare Cause of Osteoporosis in a Young Adult Male

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recommendations! Published in 2019 at "Journal of the Endocrine Society"

DOI: 10.1210/js.2019-mon-495

Abstract: Abstract Introduction: Secondary osteoporosis is due to an identifiable cause of osteoporosis. Hypophosphatasia is a rare cause of secondary osteoporosis and needs to be considered when evaluating osteoporosis in young people. We present a case… read more here.

Keywords: hypophosphatasia rare; hypophosphatasia; history; alkaline phosphatase ... See more keywords

MON-496 Bone Mineral Density improvement with Vitamin Dsupplementation in a Case Of Childhood Hypophosphatasia

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recommendations! Published in 2019 at "Journal of the Endocrine Society"

DOI: 10.1210/js.2019-mon-496

Abstract: Abstract Hypophosphatasia is associated with defective mineralization of bone with possible teeth involvement with low activity of serum and bone alkaline phosphatase. It is caused by a mutations in the TNSALP gene. It is usually… read more here.

Keywords: hypophosphatasia; childhood hypophosphatasia; bone mineral; mineral density ... See more keywords