Gaucher disease: Identification and novel variants in Mexican and Spanish patients

2021 ◽  
Author(s):  
Raúl Silva García ◽  
Laura López de Frutos ◽  
Elsa Ávila Arreguin ◽  
Cecilia Correa González ◽  
José Elias García Ortiz ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Disease Identification ◽  
Novel Variants

scholarly journals ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants

2019 ◽  
Vol 10 ◽  
Author(s):  
Fang-Yuan Hu ◽  
Jian-kang Li ◽  
Feng-Juan Gao ◽  
Yu-He Qi ◽  
Ping Xu ◽  
...  
Keyword(s):  
Stargardt Disease ◽  
Gene Screening ◽  
Disease Identification ◽  
Abca4 Gene ◽  
Novel Variants ◽  
Chinese Cohort

Gaucher disease: Identification of three new mutations in the Korean and Chinese (Taiwanese) populations

1996 ◽  
Vol 7 (3) ◽  
pp. 214-218 ◽  
Author(s):  
Jong-Won Kim ◽  
Benjamin B. Liou ◽  
Ming-Yang Lai ◽  
Elvira Ponce ◽  
Gregory A. Grabowski
Keyword(s):  
Gaucher Disease ◽  
Disease Identification ◽  
New Mutations

Mutation Prevalence among 51 Unrelated Spanish Patients with Gaucher Disease: Identification of 11 Novel Mutations

2001 ◽  
Vol 27 (5) ◽  
pp. 882-891 ◽  
Author(s):  
Pilar Alfonso ◽  
Ana Cenarro ◽  
Juan Ignacio Pérez-Calvo ◽  
Manuel Giralt ◽  
Pilar Giraldo ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Novel Mutations ◽  
Disease Identification

Type 1 Gaucher disease: Identification of N396T and prevalence of glucocerebrosidase mutations in the Portuguese

1996 ◽  
Vol 8 (3) ◽  
pp. 280-281 ◽  
Author(s):  
Olga Amaral ◽  
Eugénia Pinto ◽  
Margarida Fortuna ◽  
Lucia Lacerda ◽  
M.C. Sá Miranda
Keyword(s):  
Gaucher Disease ◽  
Disease Identification ◽  
Type 1 Gaucher Disease

Intrauterine onset of acute neuropathic type 2 Gaucher disease: Identification of a novel insertion sequence

2004 ◽  
Vol 128A (2) ◽  
pp. 138-143 ◽  
Author(s):  
Ursula Felderhoff-Mueser ◽  
Johannes Uhl ◽  
Roland Penzel ◽  
Frank van Landeghem ◽  
Martin Vogel ◽  
...  
Keyword(s):  
Gaucher Disease ◽  
Insertion Sequence ◽  
Disease Identification

Ten years’ experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease

2006 ◽  
Vol 95 (3) ◽  
pp. 312-317 ◽  
Author(s):  
Anders Erikson ◽  
Håkan Forsberg ◽  
Magnus Nilsson ◽  
Marianne Åström ◽  
Jan-Eric Månsson
Keyword(s):  
Gaucher Disease ◽  
Infusion Therapy ◽  
Type 3 ◽  
Enzyme Infusion
Sign in / Sign up

Export Citation Format

Share Document