scholarly journals Type 2 Gaucher disease in an infant despite a normal maternal glucocerebrosidase gene

2017 ◽  
Vol 173 (12) ◽  
pp. 3211-3215 ◽  
Author(s):  
Ermias Hagege ◽  
Richard J. Grey ◽  
Grisel Lopez ◽  
Tamanna Roshan Lal ◽  
Ellen Sidransky ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Glucocerebrosidase Gene

scholarly journals A Prenatal Lethal Form of Type 2 Gaucher Disease Resulting from a Novel Frameshift Mutation in the Glucocerebrosidase Gene. † 632

1997 ◽  
Vol 41 ◽  
pp. 108-108
Author(s):  
Nahid Tayebi ◽  
Wim J. Kleijer ◽  
Kathryn Reissner ◽  
Jan Den Hollander ◽  
Shana Cushner ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Frameshift Mutation ◽  
Glucocerebrosidase Gene

scholarly journals Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease

2000 ◽  
Vol 15 (2) ◽  
pp. 181-188 ◽  
Author(s):  
Deborah L. Stone ◽  
Nahid Tayebi ◽  
Eduard Orvisky ◽  
Barbara Stubblefield ◽  
Victor Madike ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Gene Mutations ◽  
Glucocerebrosidase Gene

The RETRIEVE Study: A natural history study of type 2 Gaucher disease, and GM1 and GM2 gangliosidoses with early onset, in preparation of a clinical trial

2021 ◽  
Vol 132 (2) ◽  
pp. S48-S49
Author(s):  
Benedicte Heron-Longe ◽  
Spyros Batzios ◽  
Eugen Mengel ◽  
Roberto Giugliani ◽  
Marc Patterson ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Natural History ◽  
Early Onset ◽  
Gaucher Disease ◽  
Natural History Study ◽  
Gm2 Gangliosidoses

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease

2014 ◽  
Vol 59 (4) ◽  
pp. 223-228 ◽  
Author(s):  
Chitra Ankleshwaria ◽  
Mehul Mistri ◽  
Ashish Bavdekar ◽  
Mamta Muranjan ◽  
Usha Dave ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutations ◽  
Indian Patients ◽  
Glucocerebrosidase Gene

scholarly journals Five-parameter evaluation of dysphagia: A novel prognostic scale for assessing neurological decline in Gaucher disease type 2

2019 ◽  
Vol 127 (3) ◽  
pp. 191-199 ◽  
Author(s):  
Gurpreet Seehra ◽  
Beth Solomon ◽  
Emory Ryan ◽  
Alta M Steward ◽  
Tamanna Roshan Lal ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Type ◽  
Parameter Evaluation

Somatic Mosaicism in a Patient with Gaucher Disease Type 2: Implication for Genetic Counseling and Therapeutic Decision-Making

2000 ◽  
Vol 26 (6) ◽  
pp. 611-612 ◽  
Author(s):  
Mirella Filocamo ◽  
Gloria Bonuccelli ◽  
Raffaella Mazzotti ◽  
Fabio Corsolini ◽  
Marina Stroppiano ◽  
...  
Keyword(s):  
Decision Making ◽  
Genetic Counseling ◽  
Gaucher Disease ◽  
Somatic Mosaicism ◽  
Disease Type ◽  
Therapeutic Decision ◽  
Therapeutic Decision Making

Elevation of serum β-hexosaminidase and α-d-mannosidase in type 2 gaucher disease: a clinical and biochemical study

1987 ◽  
Vol 10 (2) ◽  
pp. 111-114 ◽  
Author(s):  
D. Chitayat ◽  
S. Nakagawa ◽  
R. W. Marion ◽  
G. S. Sachs ◽  
S. Shinnar ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Biochemical Study

Surgery for gastroesophageal reflux disease with Gaucher disease type 2

2016 ◽  
Vol 58 (7) ◽  
pp. 610-612
Author(s):  
Hiroyuki Kubo ◽  
Ryuichi Shimono ◽  
Aya Tanaka ◽  
Takayuki Fujii ◽  
Saneyuki Yasuda ◽  
...  
Keyword(s):  
Gastroesophageal Reflux Disease ◽  
Gastroesophageal Reflux ◽  
Reflux Disease ◽  
Gaucher Disease ◽  
Disease Type

Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease

2018 ◽  
Vol 40 (10) ◽  
pp. 876-883 ◽  
Author(s):  
Lulu Kang ◽  
Yu Wang ◽  
Xiaolan Gao ◽  
Wenjuan Qiu ◽  
Jun Ye ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Chinese Patients
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