Revised recommendations for the management of Gaucher disease in children. - Wikidata - wikimedia - TriplyDB

Revised recommendations for the management of Gaucher disease in children.

Revised recommendations for the management of Gaucher disease in children.

http://www.wikidata.org/entity/Q33402191

about

Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders Understanding the natural history of Gaucher disease Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum.Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.Management of bone disease in Gaucher disease type 1: clinical practice.Lysosomal storage disorders: A review of the musculoskeletal features.Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.A disease severity scoring system for children with type 1 Gaucher disease.The history and accomplishments of the ICGG Gaucher registry.Clinical response to eliglustat in treatment-naïve patients with Gaucher disease type 1: Post-hoc comparison to imiglucerase-treated patients enrolled in the International Collaborative Gaucher Group Gaucher Registry.Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.Enzyme replacement in neuronal storage disorders in the pediatric population.A multicenter, open-label, phase III study of Abcertin in Gaucher disease.Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey.Gaucher disease

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Revised recommendations for the management of Gaucher disease in children.

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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Revised recommendations for the management of Gaucher disease in children.

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Revised recommendations for the management of Gaucher disease in children.

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Revised recommendations for the management of Gaucher disease in children.

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European Journal of Pediatrics

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Revised recommendations for the management of Gaucher disease in children.

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Amal El-Beshlawy

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Ana Maria Martins

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Hagit Baris

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Ioana Nascu

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Linda De Meirleir

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Lynne Steinbach

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Maja Di Rocco

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Paige Kaplan

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P2860

Effective cell and gene therapy in a murine model of Gaucher disease.

Withdrawal of enzyme replacement therapy in Gaucher's disease.

The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease.

Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry.

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.

Therapeutic goals in the treatment of Gaucher disease.

The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis.

Partial splenic embolization in a child with Gaucher disease, massive splenomegaly and severe thrombocytopenia.

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1.

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study.

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