Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening-Reference-Cited by-同舟云学术

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Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening

Published:2017-06 Issue:6 Volume:19 Page:652-658
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Yang Amy C.,Bier Louise,Overbey Jessica R.,Cohen-Pfeffer Jessica,Desai Khyati,Desnick Robert J.,Balwani Manisha

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim2016159.pdf

Reference30 articles.

1. Gaucher disease;Grabowski,2001

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3. The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?;Molecular Genetics and Metabolism;2022-05

4. Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus;Molecular Genetics and Metabolism;2022-02

5. Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience;European Journal of Medical Genetics;2021-11

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