Literature DB >> 2301976

Myopathy with hypophosphatasia.

S S Seshia1, G Derbyshire, J C Haworth, J Hoogstraten.   

Abstract

Three children with hypophosphatasia also had muscle pains, stiffness, and symptoms of proximal lower limb muscle weakness that occurred early in the disorder and were the presenting features in two. A non-progressive myopathy may be an important sign of hypophosphatasia.

Entities:  

Mesh：

Year:  1990        PMID： 2301976      PMCID： PMC1792382          DOI： 10.1136/adc.65.1.130

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  3 in total

1.  Nature of muscular change in osteomalacia: light- and electron-microscope observations.

Authors:  D K Dastur; B M Gagrat; N H Wadia; M Desai; E P Bharucha
Journal:  J Pathol       Date:  1975-12       Impact factor: 7.996

2.  Muscle weakness in osteomalacia.

Authors:  G D Schott; M R Wills
Journal:  Lancet       Date:  1976-03-20       Impact factor: 79.321

3.  The pathophysiology and clinical characteristics of severe hypophosphatemia.

Authors:  J P Knochel
Journal:  Arch Intern Med       Date:  1977-02
  3 in total
  16 in total

Review 1.  [Hypophosphatasia : What is currently available for treatment?]

Authors:  T Schmidt; M Amling; F Barvencik
Journal:  Internist (Berl)       Date:  2016-12       Impact factor: 0.743

Review 2.  Hypophosphatasia.

Authors:  Agnès Linglart; Martin Biosse-Duplan
Journal:  Curr Osteoporos Rep       Date:  2016-06       Impact factor: 5.096

Review 3.  Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.

Authors:  Michael P Whyte
Journal:  Nat Rev Endocrinol       Date:  2016-02-19       Impact factor: 43.330

4.  Asfotase alfa therapy for children with hypophosphatasia.

Authors:  Michael P Whyte; Katherine L Madson; Dawn Phillips; Amy L Reeves; William H McAlister; Amy Yakimoski; Karen E Mack; Kim Hamilton; Kori Kagan; Kenji P Fujita; David D Thompson; Scott Moseley; Tatjana Odrljin; Cheryl Rockman-Greenberg
Journal:  JCI Insight       Date:  2016-06-16

Review 5.  Hypophosphatasia: Biological and Clinical Aspects, Avenues for Therapy.

Authors:  Jean Pierre Salles
Journal:  Clin Biochem Rev       Date:  2020-02

6.  Asfotase Alfa Treatment Improves Survival for Perinatal and Infantile Hypophosphatasia.

Authors:  Michael P Whyte; Cheryl Rockman-Greenberg; Keiichi Ozono; Richard Riese; Scott Moseley; Agustin Melian; David D Thompson; Nicholas Bishop; Christine Hofmann
Journal:  J Clin Endocrinol Metab       Date:  2015-11-03       Impact factor: 5.958

Review 7.  Hypophosphatasia: From Diagnosis to Treatment.

Authors:  Sebastian Simon; Heinrich Resch; Klaus Klaushofer; Paul Roschger; Jochen Zwerina; Roland Kocijan
Journal:  Curr Rheumatol Rep       Date:  2018-09-10       Impact factor: 4.592

Review 8.  Alkaline Phosphatase Replacement Therapy for Hypophosphatasia in Development and Practice.

Authors:  S A Bowden; B L Foster
Journal:  Adv Exp Med Biol       Date:  2019       Impact factor: 2.622

9.  Healthcare resource utilization in the management of hypophosphatasia in three patients displaying a spectrum of manifestations.

Authors:  Anjali B Daniel; Vrinda Saraff; Nick J Shaw; Robert Yates; M Zulf Mughal; Raja Padidela
Journal:  Orphanet J Rare Dis       Date:  2018-08-16       Impact factor: 4.123

10.  Large-scale in vitro functional testing and novel variant scoring via protein modeling provide insights into alkaline phosphatase activity in hypophosphatasia.

Authors:  Guillermo Del Angel; John Reynders; Christopher Negron; Thomas Steinbrecher; Etienne Mornet
Journal:  Hum Mutat       Date:  2020-03-18       Impact factor: 4.878
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