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

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

Early Human Development ◽

10.1016/0378-3782(96)85772-0 ◽

1996 ◽

Vol 46 (1-2) ◽

pp. 203 ◽

Cited By ~ 1

Keyword(s):

Gaucher Disease ◽

Disease Identification ◽

Molecular basis of Refsum disease: Identification of new mutations in the phytanoyl-CoA hydroxylase cDNA

Journal of Inherited Metabolic Disease ◽

10.1023/a:1005388710197 ◽

1998 ◽

Vol 21 (3) ◽

pp. 288-291 ◽

Cited By ~ 9

Author(s):

G. A. Jansen ◽

S. Ferdinandusse ◽

O. H. Skjeldal ◽

O. Stokke ◽

C. J. De Groot ◽

...

Keyword(s):

Molecular Basis ◽

Refsum Disease ◽

Disease Identification ◽

Detection of 12 new mutations in Gaucher disease Brazilian patients

Blood Cells Molecules and Diseases ◽

10.1016/j.bcmd.2006.09.004 ◽

2006 ◽

Vol 37 (3) ◽

pp. 204-209 ◽

Cited By ~ 16

Author(s):

R. Rozenberg ◽

D.C. Fox ◽

E. Sobreira ◽

L.V. Pereira

Keyword(s):

Gaucher Disease ◽

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

Archives of Medical Research ◽

10.1016/j.arcmed.2021.05.001 ◽

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

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

Blood Cells Molecules and Diseases ◽

10.1006/bcmd.2001.0461 ◽

2001 ◽

Vol 27 (5) ◽

pp. 882-891 ◽

Cited By ~ 23

Author(s):

Pilar Alfonso ◽

Ana Cenarro ◽

Juan Ignacio Pérez-Calvo ◽

Manuel Giralt ◽

Pilar Giraldo ◽

...

Keyword(s):

Gaucher Disease ◽

Novel Mutations ◽

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

Human Mutation ◽

10.1002/(sici)1098-1004(1996)8:3<280::aid-humu15>3.0.co;2-z ◽

1996 ◽

Vol 8 (3) ◽

pp. 280-281 ◽

Cited By ~ 24

Author(s):

Olga Amaral ◽

Eugénia Pinto ◽

Margarida Fortuna ◽

Lucia Lacerda ◽

M.C. Sá Miranda

Keyword(s):

Gaucher Disease ◽

Disease Identification ◽

Type 1 Gaucher Disease

79 Type II perinatal lethal Gaucher disease: Identification of a novel mutation, P332L, in a case study from Vancouver Island, British Columbia, Canada

Molecular Genetics and Metabolism ◽

10.1016/j.ymgme.2007.08.084 ◽

2007 ◽

Vol 92 (4) ◽

pp. 28-29

Author(s):

Francis Choy ◽

Agnes Zay ◽

Patrick MacLeod ◽

Cherrie R. Tan-Dy

Keyword(s):

British Columbia ◽

Gaucher Disease ◽

Novel Mutation ◽

Vancouver Island ◽

Type Ii ◽

Mutation prevalence among 47 unrelated Japanese patients with Gaucher disease: identification of four novel mutations

Journal of Inherited Metabolic Disease ◽

10.1023/a:1005313724361 ◽

1997 ◽

Vol 20 (1) ◽

pp. 67-73 ◽

Cited By ~ 28

Author(s):

H. Ida ◽

O. M. Rennert ◽

H. Kawame ◽

K. Maekawa ◽

Y. Eto

Keyword(s):

Gaucher Disease ◽

Japanese Patients ◽

Novel Mutations ◽

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

American Journal of Medical Genetics ◽

10.1002/ajmg.a.20445 ◽

2004 ◽

Vol 128A (2) ◽

pp. 138-143 ◽

Cited By ~ 14

Author(s):

Ursula Felderhoff-Mueser ◽

Johannes Uhl ◽

Roland Penzel ◽

Frank van Landeghem ◽

Martin Vogel ◽

...

Keyword(s):

Gaucher Disease ◽

Insertion Sequence ◽

X-linked congenital adrenal hypoplasia: new mutations and long-term follow-up in three patients

Clinical Endocrinology ◽

10.1046/j.1365-2265.2000.01038.x ◽

2000 ◽

Vol 53 (2) ◽

pp. 249 ◽

Cited By ~ 17

Author(s):

G. Binder

Keyword(s):

Congenital Adrenal Hypoplasia ◽

Long Term Follow Up ◽

Adrenal Hypoplasia ◽