Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene. (Q52841498)

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8 April 2020

title

Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene (English)

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8 April 2020

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5

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8 April 2020

author name string

Ermias Hagege

1

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8 April 2020

Richard J Grey

2

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8 April 2020

Grisel Lopez

3

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8 April 2020

Tamanna Roshan Lal

4

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8 April 2020

Nahid Tayebi

6

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8 April 2020

language of work or name

English

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publication date

1 November 2017

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American Journal of Medical Genetics

8 April 2020

published in

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8 April 2020

volume

173

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8 April 2020

issue

12

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8 April 2020

page(s)

3211-3215

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describes a project that uses

8 April 2020

ImageJ

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11 June 2022

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Histological characterisation of visceral changes in a patient with type 2 Gaucher disease treated with enzyme replacement therapy

29 September 2018

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A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease.

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A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders

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Identification of recombinant alleles using quantitative real-time PCR implications for Gaucher disease

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Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3.

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Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).

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Gaucher disease: complexity in a "simple" disorder

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Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease

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Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease

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PubMed

https://pubmed.ncbi.nlm.nih.gov/29091352

inferred from PubMed ID database lookup

12 December 2020

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Identifiers

DOI

10.1002/AJMG.A.38487

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29091352%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29091352%20AND%20SRC:MED&resulttype=core&format=json

8 April 2020

PubMed publication ID

29091352

1 reference