High-risk screening for Gaucher disease in patients with neurological symptoms (Q88229214)

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22 March 2020

title

High-risk screening for Gaucher disease in patients with neurological symptoms (English)

1 reference

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22 March 2020

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Ken Momosaki

1

1 reference

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22 March 2020

Jun Kido

2

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22 March 2020

Shirou Matsumoto

3

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22 March 2020

Shinichiro Yoshida

4

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22 March 2020

Atsuko Takei

5

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22 March 2020

Takuya Miyabayashi

6

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22 March 2020

Keishin Sugawara

7

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22 March 2020

Fumio Endo

8

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22 March 2020

Kimitoshi Nakamura

9

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22 March 2020

publication date

30 March 2018

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Journal of Human Genetics

22 March 2020

published in

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22 March 2020

volume

63

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22 March 2020

issue

6

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22 March 2020

page(s)

717-721

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Sphingolipid lysosomal storage disorders

22 March 2020

cites work

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Clinical and genetic study of Japanese patients with type 3 Gaucher disease

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7 January 2021

A multicentre observational study for early diagnosis of Gaucher disease in patients with Splenomegaly and/or Thrombocytopenia

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7 January 2021

Gaucher and Niemann-Pick diseases--enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards

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7 January 2021

Prenatal diagnosis of Gaucher disease using next-generation sequencing

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7 January 2021

Neuronopathic and non-neuronopathic presentation of Gaucher disease in patients with the third most common mutation (D409H) in Spain

1 reference

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7 January 2021

A Novel Complex Allele and Two New Point Mutations in Type 2 (Acute Neuronopathic) Gaucher Disease

1 reference

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7 January 2021

A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease

1 reference

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7 January 2021

Perinatal-lethal Gaucher disease

1 reference

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7 January 2021

Long-term hematological, visceral, and growth outcomes in children with Gaucher disease type 3 treated with imiglucerase in the International Collaborative Gaucher Group Gaucher Registry

1 reference

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7 January 2021

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.

1 reference

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7 January 2021

10.1038/S10038-018-0438-7

Identifiers

DOI

1 reference

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22 March 2020

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