(Q51192993)

1 April 2018

title

Hypophosphatasia: Enzyme Replacement Therapy Brings New Opportunities and New Challenges. (English)

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1 April 2018

enzyme replacement therapy

main subject

hypophosphatasia

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author name string

Michael P Whyte

series ordinal

1

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1 April 2018

publication date

13 January 2017

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1 April 2018

Journal of Bone and Mineral Research

published in

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1 April 2018

volume

32

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1 April 2018

issue

4

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1 April 2018

page(s)

667-675

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1 April 2018

Hypophosphatasia; a new developmental anomaly

cites work

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Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment

21 January 2018

1 reference

Enzyme-replacement therapy in life-threatening hypophosphatasia.

21 January 2018

1 reference

Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia

21 January 2018

1 reference

Alkaline Phosphatase and Hypophosphatasia

21 January 2018

1 reference

EXCRETION OF INORGANIC PYROPHOSPHATE IN HYPOPHOSPHATASIA.

21 January 2018

1 reference

Effect of pyrophosphate on hydroxyapatite and its implications in calcium homeostasis

21 January 2018

1 reference

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

21 January 2018

1 reference

Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients

21 January 2018

1 reference

21 January 2018

1 reference

A homoallelic Gly317-->Asp mutation in ALPL causes the perinatal (lethal) form of hypophosphatasia in Canadian mennonites

21 January 2018

1 reference

Homozygosity for TNSALP mutation 1348c>T (Arg433Cys) causes infantile hypophosphatasia manifesting transient disease correction and variably lethal outcome in a kindred of black ancestry

21 January 2018

1 reference

Hypophosphatasia: nonlethal disease despite skeletal presentation in utero (17 new cases and literature review).

21 January 2018

1 reference

Hypophosphatasia: Natural history study of 101 affected children investigated at one research center

21 January 2018

1 reference

Low serum alkaline phosphatase activity and pathologic fracture: case report and brief review of hypophosphatasia diagnosed in adulthood

21 January 2018

1 reference

Management of femoral fractures and pseudofractures in adult hypophosphatasia

21 January 2018

1 reference

Crystal deposition in hypophosphatasia: a reappraisal.

21 January 2018

1 reference

Adult hypophosphatasia with chondrocalcinosis and arthropathy. Variable penetrance of hypophosphatasemia in a large Oklahoma kindred

21 January 2018

1 reference

Myopathy with hypophosphatasia

21 January 2018

1 reference

Infantile hypophosphatasia: enzyme replacement therapy by intravenous infusion of alkaline phosphatase-rich plasma from patients with Paget bone disease

21 January 2018

1 reference

Outcome of perinatal hypophosphatasia in manitoba mennonites: a retrospective cohort analysis

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

Severe cleidocranial dysplasia and hypophosphatasia in a child with microdeletion of the C-terminal region of RUNX2.

21 January 2018

1 reference

Increased plasma pyridoxal-5'-phosphate levels before and after pyridoxine loading in carriers of perinatal/infantile hypophosphatasia

21 January 2018

1 reference

The urinary excretion of phosphoethanolamine in diseases other than hypophosphatasia

21 January 2018

1 reference

Dual-energy X-ray absorptiometry interpretation: a simple equation for height correction in preteenage children

21 January 2018

1 reference

Perinatal hypophosphatasia caused by uniparental isodisomy

21 January 2018

1 reference

Physical therapy management of infants and children with hypophosphatasia.

21 January 2018

1 reference

Marrow cell transplantation for infantile hypophosphatasia

21 January 2018

1 reference

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

21 January 2018

1 reference

ADULT HYPOPHOSPHATASIA TREATED WITH TERIPARATIDE: REPORT OF 2 PATIENTS AND REVIEW OF THE LITERATURE.

21 January 2018

1 reference

Enzyme replacement therapy for murine hypophosphatasia

21 January 2018

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

21 January 2018

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Lethal hypophosphatasia successfully treated with enzyme replacement from day 1 after birth.

21 January 2018

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Pathophysiological role of vascular smooth muscle alkaline phosphatase in medial artery calcification

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/JBMR.3075

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1 April 2018

PubMed ID

28084648

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1 April 2018