A reappraisal of Gaucher disease-diagnosis and disease management algorithms. - Wikidata - awgldk - TriplyDB

A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

http://www.wikidata.org/entity/Q34683786

about

Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease Understanding the natural history of Gaucher disease Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation Neuroimaging of lipid storage disorders.A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia.Hematological manifestations and complications of Gaucher disease.Young-onset dementia Gaucher disease and its treatment options.Type II NKT-TFH cells against Gaucher lipids regulate B-cell immunity and inflammation Evaluation of high density lipoprotein as a circulating biomarker of Gaucher disease activity Gaucher's disease: report of 11 cases with review of literature.Phenotype diversity in type 1 Gaucher disease: discovering the genetic basis of Gaucher disease/hematologic malignancy phenotype by individual genome analysis.Disease-drug pairs revealed by computational genomic connectivity mapping on GBA1 deficient, Gaucher disease mice.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 Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.Role of endosomes and lysosomes in human disease.Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review.Early diagnosis of Gaucher disease in pediatric patients: proposal for a diagnostic algorithm.Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.Gaucher disease and bone manifestations.Case series and literature review of skeletal tumors and their incidence in the Gaucher disease population.Modelling long-term evolution of chitotriosidase in non-neuronopathic Gaucher disease.Successful newborn screening for Gaucher disease using fluorometric assay in China.Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views The face of lysosomal storage disorders in India: a need for early diagnosis.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.Clinical Utility of Bone Marrow Study in Gaucher Disease: A Case Report of Gaucher Disease Type 3 With Intractable Myoclonic Seizures.Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment.Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severity.Tandem mass spectrometry assay of β-glucocerebrosidase activity in dried blood spots eliminates false positives detected in fluorescence assay.Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis.A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China.Gaucher disease and chronic myeloid leukemia: first reported patient receiving enzyme replacement and tyrosine kinase inhibitor therapies simultaneously.

P2860

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P2860

A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

http://www.wikidata.org/entity/Q34683786

description

2011 nî lūn-bûn

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2011 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2011 թվականի հունվարին հրատարակված գիտական հոդված

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2011年の論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年論文

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2011年论文

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name

A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

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A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

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A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

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type

label

A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

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A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

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A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

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prefLabel

A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

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A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

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A reappraisal of Gaucher disease-diagnosis and disease management algorithms.

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A reappraisal of Gaucher disease-diagnosis and disease management algorithms

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P2093

Elena Lukina

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Gero Massenkeil

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Hanna Rosenbaum

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Hayri Ozsan

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Jesús Villarrubia

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Maria Helena Solano

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Nora Patricia Watman

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Pramod K Mistry

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Sara Mach Pascual

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Zachary Spigelman

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P2860

Life expectancy in Gaucher disease type 1

Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data.

Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher 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.

Gaucher disease. Clinical, laboratory, radiologic, and genetic features of 53 patients.

Therapeutic goals in the treatment of Gaucher disease.

Individualization of long-term enzyme replacement therapy for Gaucher disease.

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

Pseudo-Gaucher cell proliferation associated with myelodysplastic syndrome.

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10.1002/AJH.21888

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1

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86

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Maria Domenica Cappellini

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47795627

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21080341

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3058841

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