Hyperphosphatemia with low FGF7 and normal FGF23 and sFRP4 levels in the circulation characterizes pediatric hypophosphatasia.
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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
Adult hypophosphatasia with a novel ALPL mutation: Report of an Indian kindred
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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
Sign Up to like & getrecommendations! 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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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
O01 Hypophosphatasia in adults at a specialist centre in the UK: the spectrum of musculoskeletal disease
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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
MON-495 Hypophosphatasia: A Rare Cause of Osteoporosis in a Young Adult Male
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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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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
Unexpected Hurdle in the Race: Hypophosphatasia Unmasked by the Female Athlete Triad.
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DOI: 10.1249/jsr.0000000000000664
Abstract: Hypophosphatasia should be considered for any patient who presents with multiple metatarsal stress fractures and a low alkaline phosphatase. read more here.
Keywords: hypophosphatasia; unexpected hurdle; hurdle race; race hypophosphatasia ... See more keywords
Hypophosphatasia: Diagnostic clues for the dental practitioner
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DOI: 10.12968/denu.2018.45.1.64
Abstract: Hypophosphatasia has a wide clinical spectrum ranging from premature loss of primary teeth to neonatal death. The premature loss of primary teeth in a child with an otherwise unremarkable history may be the first sign… read more here.
Keywords: clues dental; hypophosphatasia; hypophosphatasia diagnostic; diagnostic clues ... See more keywords
The Clinical Picture of Patients Suffering from Hypophosphatasia—A Rare Metabolic Disease of Many Faces
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DOI: 10.3390/diagnostics12040865
Abstract: Hypophosphatasia (HPP) is a rare, and usually diagnosed with delay, genetic disease caused by a mutation in the alkaline phosphatase liver/bone/kidney type (ALPL) gene. Low activity of the alkaline phosphatase (ALP) impairs the hydroxyapatite formation,… read more here.
Keywords: suffering hypophosphatasia; patients suffering; disease; picture patients ... See more keywords
Ankylosed Primary Molar in a Japanese Child with Hypophosphatasia
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DOI: 10.3390/dj9010003
Abstract: Hypophosphatasia (HPP) is a rare genetic disorder; affected patients may experience early exfoliation of primary teeth, especially anterior teeth. However, there have been few reports regarding longitudinal follow-up for primary teeth, especially posterior teeth, until… read more here.
Keywords: primary molar; hypophosphatasia; age; anterior teeth ... See more keywords