Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.-Reference-Cited by-同舟云学术

Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.

Published:1995-09-01 Issue:9 Volume:32 Page:740-742
ISSN:1468-6244
Container-title:Journal of Medical Genetics
language:en
Short-container-title:Journal of Medical Genetics

Author:

Chabas A,Cormand B,Grinberg D,Burguera J M,Balcells S,Merino J L,Mate I,Sobrino J A,Gonzalez-Duarte R,Vilageliu L

Publisher

BMJ

Subject

Genetics(clinical),Genetics

Reference20 articles.

1. Glucosylceramide lipidoses: Gaucher disease;Barranger, J.A.; El, Ginns,1989

2. Gaucher disease: new molecular approaches to diagnosis and treatment;Beutler, E.;Science,1992

3. Phenotype/genotype correlations in Gaucher disease type I-clinical and therapeutic implications;Sibille, A.; Eng, C.M.; Kim, S.J.; Pastores, G.; Grabowski, G.A.;Am J Hum Genet,1993

4. Mutations causing Gaucher disease;Horowitz, M.; Zimran, A.;Hum Mutat,1994

5. Gaucher's disease in Spanish patients: analysis of eight mutations;Cormand, B.; Vilageliu, L.; Burguera, J.M.;Hum Mutat,1995

Cited by 105 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. Expanding the phenotypic landscape of Gaucher disease type 3c with a novel entity - Transient neonatal cholestasis;European Journal of Medical Genetics;2023-06

2. Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review;International Journal of Molecular Sciences;2023-05-11

3. The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era;American Journal of Medical Genetics Part A;2023-04-12

4. A Balance Between Autophagy and Other Cell Death Modalities in Cancer;Autophagy and Cancer;2022

5. Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study);Diagnostics;2021-05-29