Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis-Reference-Cited by-同舟云学术

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Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis

Published:2023-06 Issue:6 Volume:66 Page:104764
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Bulut Fatma Derya^ORCID,Kor Deniz^ORCID,Kılavuz Sebile^ORCID,Şeker Yılmaz Berna^ORCID,Kaplan İrem^ORCID,Ekinci Faruk^ORCID,Burgaç Ezgi,Varol İlknur^ORCID,Köşeci Burcu^ORCID,Tuğ Bozdoğan Sevcan^ORCID,Kara Esra^ORCID,Demir Fadli^ORCID,Deniz Ali^ORCID,Temiz Fatih^ORCID,Önenli Mungan Neslihan^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference20 articles.

1. Calcification of the ascending aorta and aortic and mitral valves in Gaucher's disease;Casta;Am. J. Cardiol.,1984

2. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation;Chabás;J. Med. Genet.,1995

3. Recurrence of the D409H mutation in Spanish Gaucher disease patients: description of a new homozygous patient and haplotype analysis;Chabás;J. Med. Genet.,1998

4. Gaucher disease with communicating hydrocephalus and cardiac involvement;Cindik;Clin. Cardiol.,2010

5. Gaucher's disease: clinical features and natural history;Cox;Baillieres Clin Haematol,1997

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Gaucher disease type 3c: Expanding the clinical spectrum of an ultra‐rare disease;JIMD Reports;2024-08-15

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