Literature DB >> 11486896

Management of neuronopathic Gaucher disease: a European consensus.

A Vellodi1, B Bembi, T B de Villemeur, T Collin-Histed, A Erikson, E Mengel, A Rolfs, A Tylki-Szymanska.   

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Year:  2001        PMID： 11486896     DOI： 10.1023/a:1010514614570

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  17 in total

1.  Changes in serum chitotriosidase activity with cessation of replacement enzyme (cerebrosidase) administration in Gaucher disease.

Authors:  B Czartoryska; A Tylki-Szymańska; A Lugowska
Journal:  Clin Biochem       Date:  2000-03       Impact factor: 3.281

2.  Types I and III Gaucher disease in Poland: incidence of the most common mutations and phenotypic manifestations.

Authors:  A Tylki-Szymańska; G Millat; I Maire; B Czartoryska
Journal:  Eur J Hum Genet       Date:  1996       Impact factor: 4.246

3.  Prospective study of neurological responses to treatment with macrophage-targeted glucocerebrosidase in patients with type 3 Gaucher's disease.

Authors:  R Schiffmann; M P Heyes; J M Aerts; J M Dambrosia; M C Patterson; T DeGraba; C C Parker; G C Zirzow; K Oliver; G Tedeschi; R O Brady; N W Barton
Journal:  Ann Neurol       Date:  1997-10       Impact factor: 10.422

4.  Clinical and genetic studies of Japanese homozygotes for the Gaucher disease L444P mutation.

Authors:  H Ida; O M Rennert; K Iwasawa; M Kobayashi; Y Eto
Journal:  Hum Genet       Date:  1999 Jul-Aug       Impact factor: 4.132

5.  Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype.

Authors:  A Abrahamov; D Elstein; V Gross-Tsur; B Farber; Y Glaser; I Hadas-Halpern; S Ronen; M Tafakjdi; M Horowitz; A Zimran
Journal:  Lancet       Date:  1995-10-14       Impact factor: 79.321

6.  Ten years' experience of bone marrow transplantation for Gaucher disease.

Authors:  O Ringdén; C G Groth; A Erikson; S Granqvist; J E Månsson; E Sparrelid
Journal:  Transplantation       Date:  1995-03-27       Impact factor: 4.939

7.  Rapidly progressive type III Gaucher disease: deterioration following partial splenectomy.

Authors:  M Kyllerman; N Conradi; J E Månsson; A K Percy; L Svennerholm
Journal:  Acta Paediatr Scand       Date:  1990-04

8.  Gaucher disease--Norrbottnian type (III). Neuropaediatric and neurobiological aspects of clinical patterns and treatment.

Authors:  A Erikson
Journal:  Acta Paediatr Scand Suppl       Date:  1986

9.  Isolated horizontal supranuclear gaze palsy as a marker of severe systemic involvement in Gaucher's disease.

Authors:  M C Patterson; M Horowitz; R B Abel; J N Currie; K T Yu; C Kaneski; J J Higgins; R R O'Neill; P Fedio; A Pikus
Journal:  Neurology       Date:  1993-10       Impact factor: 9.910

10.  Pathological findings in Gaucher disease type 2 patients following enzyme therapy.

Authors:  K E Bove; C Daugherty; G A Grabowski
Journal:  Hum Pathol       Date:  1995-09       Impact factor: 3.466
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  32 in total

Review 1.  Remaining problems in the management of patients with Gaucher disease.

Authors:  A Erikson
Journal:  J Inherit Metab Dis       Date:  2001       Impact factor: 4.982

2.  No justification for very high-dose enzyme therapy for patients with type III Gaucher disease.

Authors:  Ari Zimran; Deborah Elstein
Journal:  J Inherit Metab Dis       Date:  2007-11       Impact factor: 4.982

Review 3.  Clinical neurogenetics: neuropathic lysosomal storage disorders.

Authors:  Gregory M Pastores; Gustavo H B Maegawa
Journal:  Neurol Clin       Date:  2013-11       Impact factor: 3.806

4.  Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool.

Authors:  Elin Haf Davies; Eugen Mengel; Anna Tylki-Szymanska; G Kleinotiene; Joerg Reinke; Ashok Vellodi
Journal:  J Inherit Metab Dis       Date:  2011-05-28       Impact factor: 4.982

5.  Gaucher Disease in Two Siblings.

Authors:  A Devgan; A Saxena; R K Thapar; A K Dubey
Journal:  Med J Armed Forces India       Date:  2011-07-21

Review 6.  Outcome of type III Gaucher disease on enzyme replacement therapy: review of 55 cases.

Authors:  E H Davies; A Erikson; T Collin-Histed; E Mengel; A Tylki-Szymanska; A Vellodi
Journal:  J Inherit Metab Dis       Date:  2007-11-12       Impact factor: 4.982

Review 7.  A severity scoring tool to assess the neurological features of neuronopathic Gaucher disease.

Authors:  E H Davies; R Surtees; C DeVile; I Schoon; A Vellodi
Journal:  J Inherit Metab Dis       Date:  2007-09-16       Impact factor: 4.982

8.  Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III.

Authors:  J Cox-Brinkman; M J van Breemen; B T van Maldegem; L Bour; W E Donker; C E M Hollak; F A Wijburg; J M F G Aerts
Journal:  J Inherit Metab Dis       Date:  2008-10-15       Impact factor: 4.982

9.  Apparent diffusion coefficient vale of the brain in patients with Gaucher's disease type II and type III.

Authors:  Ahmed Abdel Khalek Abdel Razek; Nahed Abd El-Gaber; Ahmed Abdalla; Abeer Fathy; Ahmed Azab; Ashraf Abdel Rahman
Journal:  Neuroradiology       Date:  2009-07-15       Impact factor: 2.804

Review 10.  Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring.

Authors:  Antonio Baldellou; Generoso Andria; Pauline E Campbell; Joel Charrow; Ian J Cohen; Gregory A Grabowski; Chris M Harris; Paige Kaplan; Kieran McHugh; Eugen Mengel; Ashok Vellodi
Journal:  Eur J Pediatr       Date:  2003-12-16       Impact factor: 3.183
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