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   Articles with "hpp" as a keyword



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Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry

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recommendations! Published in 2020 at "Journal of Bone and Mineral Research"

DOI: 10.1002/jbmr.4130

Abstract: Hypophosphatasia (HPP) is a rare, inherited, metabolic disease caused by deficient tissue non‐specific alkaline phosphatase activity. This study aims to assess patient‐reported pain, disability and health‐related quality of life (HRQoL) in a real‐world cohort of… read more here.

Keywords: disability; registry; onset hpp; hpp ... See more keywords

Dentoalveolar Defects of Hypophosphatasia are Recapitulated in a Sheep Knock‐In Model

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recommendations! Published in 2022 at "Journal of Bone and Mineral Research"

DOI: 10.1002/jbmr.4666

Abstract: Hypophosphatasia (HPP) is the inherited error‐of‐metabolism caused by mutations in ALPL, reducing the function of tissue‐nonspecific alkaline phosphatase (TNAP/TNALP/TNSALP). HPP is characterized by defective skeletal and dental mineralization and is categorized into several clinical subtypes… read more here.

Keywords: dentoalveolar defects; cementum; knock; bone ... See more keywords
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Mortality of silver eels migrating through different types of hydropower turbines in Lithuania

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recommendations! Published in 2018 at "River Research and Applications"

DOI: 10.1002/rra.3224

Abstract: Hydropower plants (HPP) are considered to be one of the major threats to the survival of European eels when they migrate downstream along inland water bodies during the early part of their annual journey to… read more here.

Keywords: silver eels; eels migrating; lithuania mortality; mortality ... See more keywords

Neurological symptoms in Hypophosphatasia

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recommendations! Published in 2018 at "Osteoporosis International"

DOI: 10.1007/s00198-018-4691-6

Abstract: SummaryHypophosphatasia (HPP) typically manifests with fractures, tooth loss, and muscle pain. Although mental health diagnoses and neurological symptoms have not been previously well documented in HPP, they occur commonly. The recognition of non-traditional symptoms may… read more here.

Keywords: neurological symptoms; symptoms hypophosphatasia; health diagnoses; onset hpp ... See more keywords

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

Pathophysiology of Femoral Fractures in Hypophosphatasia

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recommendations! Published in 2025 at "Current Osteoporosis Reports"

DOI: 10.1007/s11914-025-00929-y

Abstract: In this review, we will examine the pathophysiology, anatomy, biochemistry, and genotype-phenotype correlation of femoral fractures in adult hypophosphatasia. Hypophosphatasia (HPP) is a rare genetic disease characterized by low activity of tissue-nonspecific alkaline phosphatase (TNAP).… read more here.

Keywords: hpp; pathophysiology femoral; fractures hypophosphatasia; bone ... See more keywords
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Hypophosphatasia: An overview For 2017.

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recommendations! Published in 2017 at "Bone"

DOI: 10.1016/j.bone.2017.02.011

Abstract: Hypophosphatasia (HPP) is the inborn-error-of-metabolism that features low serum alkaline phosphatase (ALP) activity (hypophosphatasemia) caused by loss-of-function mutation(s) of the gene that encodes the tissue-nonspecific isoenzyme of ALP (TNSALP). Autosomal recessive or autosomal dominant inheritance… read more here.

Keywords: hypophosphatasia overview; hpp; overview 2017; tnsalp ... 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

Vitamin B6 deficiency with normal plasma levels of pyridoxal 5'-phosphate in perinatal hypophosphatasia.

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recommendations! Published in 2021 at "Bone"

DOI: 10.1016/j.bone.2021.116007

Abstract: Pyridoxal 5'-phosphate (PLP), the principal circulating form of vitamin B6 (B6), is elevated in the plasma of individuals with hypophosphatasia (HPP). HPP is the inborn-error-of-metabolism caused by loss-of-function mutation(s) of ALPL, the gene that encodes… read more here.

Keywords: plp; plasma; level; pyridoxal phosphate ... See more keywords

Hypophosphatasia: Vitamin B6 status of affected children and adults.

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recommendations! Published in 2021 at "Bone"

DOI: 10.1016/j.bone.2021.116204

Abstract: Hypophosphatasia (HPP) is the heritable dento-osseous disease caused by loss-of-function mutation(s) of the gene ALPL that encodes the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). TNSALP is a cell-surface homodimeric phosphomonoester phosphohydrolase expressed in healthy people… read more here.

Keywords: affected children; plp; children adults; hpp ... See more keywords

Hypothermic pulsatile perfusion of human pancreas: Preliminary technical feasibility study based on histology.

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recommendations! Published in 2018 at "Cryobiology"

DOI: 10.1016/j.cryobiol.2018.10.002

Abstract: BACKGROUND There are currently two approaches to hypothermic preservation for most solid organs: static or dynamic. Cold storage is the main method used for static storage (SS), while hypothermic pulsatile perfusion (HPP) and other machine… read more here.

Keywords: perfusion; human pancreas; pulsatile perfusion; hypothermic pulsatile ... See more keywords