Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes (Q33391849)

26 July 2017

Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes (English)

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26 July 2017

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5

Robert J Desnick

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26 July 2017

Manisha Balwani

1

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26 July 2017

Laura Fuerstman

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2

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26 July 2017

Ruth Kornreich

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3

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26 July 2017

Lisa Edelmann

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4

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26 July 2017

language of work or name

English

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publication date

1 September 2010

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26 July 2017

JAMA Internal Medicine

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26 July 2017

170

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26 July 2017

16

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26 July 2017

1463-1469

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The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients

26 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Carrier screening in individuals of Ashkenazi Jewish descent

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Therapy for Gaucher disease: don't stop thinking about tomorrow

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Allelic frequency determination of the 24-bp chitotriosidase duplication in the Portuguese population by real-time PCR.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Gaucher disease: complexity in a "simple" disorder

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Enzyme replacement and enhancement therapies for lysosomal diseases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Gaucher disease: gene frequencies and genotype/phenotype correlations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

The human chitotriosidase gene. Nature of inherited enzyme deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Enzyme therapy for Gaucher disease: the first 5 years.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Carrier screening for cystic fibrosis, Gaucher disease, and Tay-Sachs disease in the Ashkenazi Jewish population: the first 1000 cases at New York University Medical Center, New York, NY.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Phenotype/genotype correlations in Gaucher disease type I: clinical and therapeutic implications.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Gaucher disease: gene frequencies in the Ashkenazi Jewish population

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Prevalence of nine mutations among Jewish and non-Jewish Gaucher disease patients

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Enzyme replacement therapy for Gaucher disease: critical investigations beyond demonstration of clinical efficacy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Cloning of a cDNA encoding chitotriosidase, a human chitinase produced by macrophages

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Gaucher disease: new molecular approaches to diagnosis and treatment

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Population genetic screening for hereditary haemochromatosis: are we a step closer?

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

A 55-year-old woman with osteopenia

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Analyses of variant acid beta-glucosidases: effects of Gaucher disease mutations

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Carrier screening: look before you leap: Carrier screening for type 1 Gaucher disease: difficult questions

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3098047

Gaucher disease type 1: revised recommendations on evaluations and monitoring for adult patients

31 October 2018

1 reference

12 December 2020

Bone density changes with enzyme therapy for Gaucher disease

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12 December 2020

Prenatal genetic carrier testing using triple disease screening

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12 December 2020

Prevalence of glucocerebrosidase mutations in the Israeli Ashkenazi Jewish population

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12 December 2020

Asymptomatic Gaucher disease implications for large-scale screening

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12 December 2020

Carrier screening for Gaucher disease: more harm than good?

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12 December 2020

Carrier frequency of autosomal-recessive disorders in the Ashkenazi Jewish population: should the rationale for mutation choice for screening be reevaluated?

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12 December 2020

Treatment perspectives for the lysosomal storage diseases

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12 December 2020

The biochemical and clinical penetrance of individuals diagnosed with genetic haemochromatosis by predictive genetic testing

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12 December 2020

10.1001/ARCHINTERNMED.2010.302

Identifiers

DOI

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26 July 2017

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26 July 2017

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