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Literature DB >> 19655269

Management of neuronopathic Gaucher disease: revised recommendations.

A Vellodi¹, A Tylki-Szymanska², E H Davies³, E Kolodny⁴, B Bembi⁵, T Collin-Histed⁶, E Mengel⁷, A Erikson⁸, R Schiffmann⁹.

Abstract

The original guidelines drawn up for the management of the neuronopathic forms of Gaucher disease were felt to be in need of revision; in particular, the role of high-dose enzyme replacement therapy (120 IU/kg of body weight every 2 weeks) in stabilizing neurological disease. The existing published evidence was analysed; it was concluded that it did not support the role of high-dose ERT, although this might be required to treat severe visceral disease.

Entities: Disease Gene

Mesh：

Year: 2009 PMID： 19655269 DOI： 10.1007/s10545-009-1164-2

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

24 in total

1. Enzyme replacement therapy in type III Gaucher disease.

Authors: A Tylki-Szymańska; B Czartoryska
Journal: J Inherit Metab Dis Date: 1999-04 Impact factor: 4.982

2. A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules.

Authors: K Inui; K Yanagihara; K Otani; Y Suzuki; M Akagi; M Nakayama; H Ida; S Okada
Journal: J Pediatr Date: 2001-01 Impact factor: 4.406

Review 3. 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 4. 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

5. Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease.

Authors: Ozlem Goker-Alpan; Edythe A Wiggs; Michael J Eblan; William Benko; Shira G Ziegler; Ellen Sidransky; Raphael Schiffmann
Journal: J Pediatr Date: 2008-02-14 Impact factor: 4.406

6. Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease.

Authors: Anders Erikson; Håkan Forsberg; Magnus Nilsson; Marianne Aström; Jan-Eric Månsson
Journal: Acta Paediatr Date: 2006-03 Impact factor: 2.299

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

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

8. 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

9. Characterization of neuronopathic Gaucher disease among ethnic Poles.

Authors: Anna Tylki-Szymañska; Mehdi Keddache; Gregory A Grabowski
Journal: Genet Med Date: 2006-01 Impact factor: 8.822

10. Recommendations for the assessment and monitoring of skeletal manifestations in children with Gaucher disease.

Authors: M Maas; T Hangartner; G Mariani; K McHugh; S Moore; G A Grabowski; P Kaplan; A Vellodi; J Yee; L Steinbach
Journal: Skeletal Radiol Date: 2008-03 Impact factor: 2.199

31 in total

Review 1. Revised recommendations for the management of Gaucher disease in children.

Authors: Paige Kaplan; Hagit Baris; Linda De Meirleir; Maja Di Rocco; Amal El-Beshlawy; Martina Huemer; Ana Maria Martins; Ioana Nascu; Marianne Rohrbach; Lynne Steinbach; Ian J Cohen
Journal: Eur J Pediatr Date: 2012-07-08 Impact factor: 3.183

2. Enzyme replacement in neuronal storage disorders in the pediatric population.

Authors: Erika F Augustine; Jonathan W Mink
Journal: Curr Treat Options Neurol Date: 2013-10 Impact factor: 3.598

3. Clinical trials in rare disease: challenges and opportunities.

Authors: Erika F Augustine; Heather R Adams; Jonathan W Mink
Journal: J Child Neurol Date: 2013-09 Impact factor: 1.987

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 type 2: homozygosity for the mutation F331S in two unrelated consanguineous Muslim Arab patients with Gaucher disease from the Gaza and Jenin regions.

Authors: Hagit N Baris; Annick Raas-Rothschild; Ben-Zion Garty; Ruth Tor; Sarah Klontz; Nahid Tayebi; Ellen Sidransky; Ian J Cohen
Journal: Blood Cells Mol Dis Date: 2011-09-01 Impact factor: 3.039

6. Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment.

Authors: Filippo Vairo; Cristina Netto; Alicia Dorneles; Suzana Mittelstadt; Matheus Wilke; Divair Doneda; Kristiane Michelin; Camila Blos Ribeiro; Amanda Quevedo; Tatiane Vieira; Tatiele Nalin; Sônia Lueska; Ida Vanessa D Schwartz
Journal: JIMD Rep Date: 2013-02-21

Review 10. Neuropathic Gaucher disease.

Authors: Gregory M Pastores
Journal: Wien Med Wochenschr Date: 2010-12