(Q38740282)

6 September 2017

title

Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment (English)

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6 September 2017

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Michael P Whyte

1

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6 September 2017

publication date

19 February 2016

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Nature Reviews Endocrinology

6 September 2017

published in

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6 September 2017

volume

12

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6 September 2017

issue

4

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6 September 2017

page(s)

233-246

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Hypophosphatasia; a new developmental anomaly

6 September 2017

cites work

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Pyridoxine-responsive seizures as the first symptom of infantile hypophosphatasia caused by two novel missense mutations (c.677T>C, p.M226T; c.1112C>T, p.T371I) of the tissue-nonspecific alkaline phosphatase gene

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Unique coexpression in osteoblasts of broadly expressed genes accounts for the spatial restriction of ECM mineralization to bone

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Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis

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Inorganic pyrophosphate in plasma in normal persons and in patients with hypophosphatasia, osteogenesis imperfecta, and other disorders of bone

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Association of inorganic-pyrophosphatase activity with human alkaline-phosphatase preparations

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Hypophosphatasia: dental aspects and mode of inheritance

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Vitamin D metabolism in hypophosphatasia

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Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy

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Hypophosphatemia, hyperphosphaturia, and bisphosphonate treatment are associated with survival beyond infancy in generalized arterial calcification of infancy

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EXCRETION OF INORGANIC PYROPHOSPHATE IN HYPOPHOSPHATASIA.

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Markedly increased circulating pyridoxal-5'-phosphate levels in hypophosphatasia. Alkaline phosphatase acts in vitamin B6 metabolism

21 January 2018

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Alkaline phosphatase is an ectoenzyme that acts on micromolar concentrations of natural substrates at physiologic pH in human osteosarcoma (SAOS-2) cells

21 January 2018

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Perinatal hypophosphatasia: tissue levels of vitamin B6 are unremarkable despite markedly increased circulating concentrations of pyridoxal-5'-phosphate. Evidence for an ectoenzyme role for tissue-nonspecific alkaline phosphatase

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Hypophosphatasia and the Extracellular Metabolism of Inorganic Pyrophosphate: Clinical and Laboratory Aspects: Part I

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Infantile hypophosphatasia: autosomal recessive transmission to two related sibships

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Phenotypically dissimilar hypophosphatasia in two sibships

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Loss of skeletal mineralization by the simultaneous ablation of PHOSPHO1 and alkaline phosphatase function: a unified model of the mechanisms of initiation of skeletal calcification

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Alkaline phosphatase knock-out mice recapitulate the metabolic and skeletal defects of infantile hypophosphatasia

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Novel mouse model of autosomal semidominant adult hypophosphatasia has a splice site mutation in the tissue nonspecific alkaline phosphatase gene Akp2.

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Infantile hypophosphatasia: transplantation therapy trial using bone fragments and cultured osteoblasts

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Infantile hypophosphatasia: treatment options to control hypercalcemia, hypercalciuria, and chronic bone demineralization

21 January 2018

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Effective NSAID treatment indicates that hyperprostaglandinism is affecting the clinical severity of childhood hypophosphatasia

21 January 2018

1 reference

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Enzyme replacement therapy for infantile hypophosphatasia attempted by intravenous infusions of alkaline phosphatase-rich Paget plasma: results in three additional patients

21 January 2018

1 reference

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Treatment of adult hypophosphatasia with teriparatide

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.14

Enzyme replacement therapy prevents dental defects in a model of hypophosphatasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNRENDO.2016.14

Enzyme replacement therapy for murine hypophosphatasia

21 January 2018

1 reference

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Improvement of the skeletal and dental hypophosphatasia phenotype in Alpl-/- mice by administration of soluble (non-targeted) chimeric alkaline phosphatase.

21 January 2018

1 reference

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Prolonged survival and phenotypic correction of Akp2−/− hypophosphatasia mice by lentiviral gene therapy

21 January 2018

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Mammalian Alkaline Phosphatases

21 January 2018

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Tetrameric alkaline phosphatase from human liver is converted to dimers by phosphatidylinositol phospholipase C.

31 March 2020

1 reference

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A molecular-based estimation of the prevalence of hypophosphatasia in the European population

31 March 2020

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Hypophosphatasia now draws more attention of both clinicians and researchers: a commentary on Prevalence of c. 1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasias in Japanese and effects of the mutation

31 March 2020

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"Atypical femoral fractures" during bisphosphonate exposure in adult hypophosphatasia

31 March 2020

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Atypical femoral fractures, bisphosphonates, and adult hypophosphatasia

31 March 2020

1 reference

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Adult hypophosphatasia treated with teriparatide

31 March 2020

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Calcific periarthritis as the only clinical manifestation of hypophosphatasia in middle-aged sisters

31 March 2020

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31 March 2020

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Absence of adult dental anomalies in familial hypophosphatasia

31 March 2020

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Pulmonary hypoplasia in neonatal hypophosphatasia

31 March 2020

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Increased serum pyridoxal-5'-phosphate in pseudohypophosphatasia

31 March 2020

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Hypophosphatasia: screening and family investigation.

31 March 2020

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Histologic and ultrastructural studies on the mineralization process in hypophosphatasia

31 March 2020

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Metabolic abnormalities in hypophosphatasia.

31 March 2020

1 reference

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Circulating vitamin D metabolite levels in hypophosphatasia

31 March 2020

1 reference

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The excretion of phosphoethanolamine and hypophosphatasia

31 March 2020

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Mammalian O-phosphorylethanolamine phospho-lyase activity and its inhibition

31 March 2020

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Alkaline Phosphatase and Hypophosphatasia

31 March 2020

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Clinical and radiographic findings in adults with persistent hypophosphatasemia

31 March 2020

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Lethal osteogenesis imperfecta: abnormal collagen metabolism and biochemical characteristics of hypophosphatasia

31 March 2020

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Raised urinary excretion of inorganic pyrophosphate in asymptomatic members of a hypophosphatasia kindred

31 March 2020

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Permanent teeth in hypophosphatasia: light and electron microscopic study

31 March 2020

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First-trimester prenatal diagnosis of hypophosphatasia: experience with 16 cases

31 March 2020

1 reference

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Infantile hypophosphatasia: successful prenatal assessment by testing for tissue-non-specific alkaline phosphatase isoenzyme gene mutations

31 March 2020

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https://api.crossref.org/works/10.1038%2FNRENDO.2016.14

First-trimester prenatal molecular diagnosis of infantile hypophosphatasia in a Japanese family

31 March 2020

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Respiratory mechanics in an infant with perinatal lethal hypophosphatasia treated with human recombinant enzyme replacement therapy

31 March 2020

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Treatment of hypophosphatasia with cortisone

31 March 2020

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Parathyroid Hormone Treatment Improves Pain and Fracture Healing in Adult Hypophosphatasia

31 March 2020

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Skull scintigraphy in infantile hypophosphatasia

31 March 2020

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12 December 2020

Perinatal ultrasound casebook. Antenatal findings in congenital hypophosphatasia

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12 December 2020

Hypophosphatasia (adult form): quantitation of serum alkaline phosphatase isoenzyme activity in a large kindred.

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12 December 2020

[Hypophosphatasia: complete absence of the fetal skeleton]

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12 December 2020

Missense mutations of the tissue-nonspecific alkaline phosphatase gene in hypophosphatasia

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12 December 2020

The Possible Significance of Hexosephosphoric Esters in Ossification

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12 December 2020

Matrix vesicles in osteomalacic hypophosphatasia bone contain apatite-like mineral crystals

1 reference

12 December 2020

Isoenzymes of alkaline phosphatase in infantile hypophosphatasia

1 reference

12 December 2020

Prenatal diagnosis of hypophosphatasia; genetic, biochemical, and clinical studies

1 reference

12 December 2020

Alkaline phosphatase dissolves calcium pyrophosphate dihydrate crystals

1 reference

12 December 2020

Structure of the human liver/bone/kidney alkaline phosphatase gene

1 reference

12 December 2020

Rickets, deficiency of alkaline phosphatase activity and premature loss of teeth in childhood

1 reference

12 December 2020

Hypophosphatasia: clinicopathologic comparison of the infantile, childhood, and adult forms

1 reference

12 December 2020

Recurrent calcific periarthritis, erosive osteoarthritis and hypophosphatasia: a family study

1 reference

12 December 2020

Alkaline phosphatase (tissue-nonspecific isoenzyme) is a phosphoethanolamine and pyridoxal-5'-phosphate ectophosphatase: normal and hypophosphatasia fibroblast study

1 reference

12 December 2020

Childhood pseudohypophosphatasia. Clinical and laboratory study of two cases

1 reference

12 December 2020

Hypophosphatasia: biochemical diagnosis in post-mortem organs, plasma and diploid skin fibroblasts [proceedings]

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12 December 2020

Retrospective study of children with hypophosphatasia with reference to dental changes

1 reference

12 December 2020

Hypophosphatasia: a developmental anomaly of alkaline phosphatase?

1 reference

12 December 2020

Adult hypophosphatasia. Clinical, laboratory, and genetic investigation of a large kindred with review of the literature

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12 December 2020

Phosphorylethanolamine and hypophosphatasia

1 reference

12 December 2020

1 reference

12 December 2020

Identification of novel missense mutations (Phe310Leu and Gly439Arg) in a neonatal case of hypophosphatasia

1 reference

12 December 2020

Hepatic clearance of rat plasma intestinal alkaline phosphatase

1 reference

12 December 2020

Identifiers

DOI

10.1038/NRENDO.2016.14

1 reference

6 September 2017

1 reference