Literature DB >> 9497865

Skeletal involvement in Gaucher's disease.

D Elstein1, M Itzchaki, H J Mankin.   

Abstract

Perhaps the most variable of all the symptoms attributed to Gaucher's disease is that of bone involvement, both in the Type 1 and Type 3 forms of the disease. Expression of skeletal involvement in Gaucher patients ranges from asymptomatic disease, with or without radiological signs, to symptomatic disease, which can be severe and engender considerable pain and disability. Herein we discuss the imaging techniques currently available to document the presence and progression of bone involvement as well as the various forms of medical and surgical management that are employed to help the Gaucher patient cope with skeletal disease.

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Year:  1997        PMID: 9497865     DOI: 10.1016/s0950-3536(97)80041-8

Source DB:  PubMed          Journal:  Baillieres Clin Haematol        ISSN: 0950-3536


  10 in total

1.  Gaucher disease and bone: laboratory and skeletal mineral density variations during a long period of enzyme replacement therapy.

Authors:  G Ciana; R Addobbati; G Tamaro; A Leopaldi; M Nevyjel; L Ronfani; L Vidoni; M G Pittis; B Bembi
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

2.  Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage.

Authors:  Pramod K Mistry; Jun Liu; Mei Yang; Timothy Nottoli; James McGrath; Dhanpat Jain; Kate Zhang; Joan Keutzer; Wei-Lien Chuang; Wei-Lein Chuang; Wajahat Z Mehal; Hongyu Zhao; Aiping Lin; Shrikant Mane; Xuan Liu; Yuan Z Peng; Jian H Li; Manasi Agrawal; Ling-Ling Zhu; Harry C Blair; Lisa J Robinson; Jameel Iqbal; Li Sun; Mone Zaidi
Journal:  Proc Natl Acad Sci U S A       Date:  2010-10-20       Impact factor: 11.205

Review 3.  Mandibular and dental manifestations of Gaucher disease.

Authors:  H R Saranjam; E Sidransky; W Z Levine; A Zimran; D Elstein
Journal:  Oral Dis       Date:  2012-01-18       Impact factor: 3.511

4.  Effect of vitamin D receptor (VDR) genotypes on the risk for osteoporosis in type 1 Gaucher disease.

Authors:  Allen Greenwood; Deborah Elstein; Ari Zimran; Gheona Altarescu
Journal:  Clin Rheumatol       Date:  2010-04-25       Impact factor: 2.980

Review 5.  Gaucher disease: pediatric concerns.

Authors:  Deborah Elstein; Aya Abrahamov; Altoon Dweck; Irith Hadas-Halpern; Ari Zimran
Journal:  Paediatr Drugs       Date:  2002       Impact factor: 3.022

Review 6.  Gaucher disease: the role of the specialist on metabolic bone diseases.

Authors:  Laura Masi; Maria Luisa Brandi
Journal:  Clin Cases Miner Bone Metab       Date:  2015-10-26

Review 7.  Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.

Authors:  Emily C Daykin; Emory Ryan; Ellen Sidransky
Journal:  Mol Genet Metab       Date:  2021-01-09       Impact factor: 4.797

8.  Timing of initiation of enzyme replacement therapy after diagnosis of type 1 Gaucher disease: effect on incidence of avascular necrosis.

Authors:  Pramod K Mistry; Patrick Deegan; Ashok Vellodi; J Alexander Cole; Michael Yeh; Neal J Weinreb
Journal:  Br J Haematol       Date:  2009-09-03       Impact factor: 6.998

9.  Poor results of drilling in early stages of juxta-articular osteonecrosis in 12 joints affected by Gaucher disease.

Authors:  Ehud Lebel; Mici Phillips; Deborah Elstein; Ari Zimran; Menachem Itzchaki
Journal:  Acta Orthop       Date:  2009-04       Impact factor: 3.717

10.  Dental profile of patients with Gaucher disease.

Authors:  Stuart L Fischman; Deborah Elstein; Harold Sgan-Cohen; Jonathan Mann; Ari Zimran
Journal:  BMC Oral Health       Date:  2003-07-23       Impact factor: 2.757

  10 in total

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