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Items: 1 to 20 of 116

1.

Novel G377S (c.1246G>T) mutation associated with Gaucher disease type 1.

Zhou Y, Kraemer RR, Peker D, Wakefield DN, de Idiaquez Bakula DA.

Am J Hematol. 2013 Oct;88(10):922-3. doi: 10.1002/ajh.23537. Epub 2013 Aug 1. No abstract available.

4.

Identification and characterization of a novel mutation c.1090G>T (G325W) and nine common mutant alleles leading to Gaucher disease in Spanish patients.

Torralba MA, Pérez-Calvo JI, Pastores GM, Cenarro A, Giraldo P, Pocoví M.

Blood Cells Mol Dis. 2001 Mar-Apr;27(2):489-95. Erratum in: Blood Cells Mol Dis 2001 May-Jun;27(3):713.

PMID:
11259172
5.

Type I Gaucher's disease with homozygous R463C mutation without neurological involvement.

Bolaman Z, Kadikoylu G, Levi E, Barutca S, Temucin K.

Haematologia (Budap). 2002;32(4):487-93.

PMID:
12803123
6.

Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.

Amaral O, Marcão A, Sá Miranda M, Desnick RJ, Grace ME.

Eur J Hum Genet. 2000 Feb;8(2):95-102.

7.

Glucocerebrosidase (Gaucher disease).

Beutler E, Gelbart T.

Hum Mutat. 1996;8(3):207-13.

PMID:
8889578
8.

Gaucher disease patient with myoclonus epilepsy and a novel mutation.

Tajima A, Ohashi T, Hamano S, Higurashi N, Ida H.

Pediatr Neurol. 2010 Jan;42(1):65-8. doi: 10.1016/j.pediatrneurol.2009.08.007.

PMID:
20004867
9.

Novel point mutation (W184R) in neonatal type 2 Gaucher disease.

Choy FY, Wong K, Vallance HD, Baldwin V.

Pediatr Dev Pathol. 2000 Mar-Apr;3(2):180-3.

PMID:
10679038
10.

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

Amaral O, Pinto E, Fortuna M, Lacerda L, Sá Miranda MC.

Hum Mutat. 1996;8(3):280-1. No abstract available.

PMID:
8889591
11.
12.

[Type 1 Gaucher disease in a pediatric patient: 12 year's evolution].

García M, Casanova C, Chabás A, Viosca E, Martínez B.

Sangre (Barc). 1997 Jun;42(3):227-9. Spanish.

PMID:
9381267
13.

Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil.

Chaves RG, Pereira Lda V, de Araújo FT, Rozenberg R, Carvalho MD, Coelho JC, Michelin-Tirelli K, Chaves Mde F, Cavalcanti GB Jr.

Clin Genet. 2015 Oct;88(4):391-5. doi: 10.1111/cge.12515. Epub 2014 Nov 8.

PMID:
25287185
14.

[Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine].

Horovenko NH, Ol'khovych NV, Nedoboĭ AM, Pichkur NO.

Tsitol Genet. 2007 Jul-Aug;41(4):41-7. Ukrainian.

PMID:
18030725
15.

Type 2 gaucher disease: an expanding phenotype.

Tayebi N, Stone DL, Sidransky E.

Mol Genet Metab. 1999 Oct;68(2):209-19. Review. No abstract available.

PMID:
10527671
16.

Mutations causing Gaucher disease.

Horowitz M, Zimran A.

Hum Mutat. 1994;3(1):1-11. Review.

PMID:
8118460
17.

Gaucher disease: four families with previously undescribed mutations.

Beutler E, Gelbart T, Balicki D, Demina A, Adusumalli J, Elsas L 2nd, Grinzaid KA, Gitzelmann R, Superti-Furga A, Kattamis C, Liou BB.

Proc Assoc Am Physicians. 1996 May;108(3):179-84.

PMID:
8774051
18.

Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.

Suwannarat P, Keeratichamroen S, Wattanasirichaigoon D, Ngiwsara L, Cairns JR, Svasti J, Visudtibhan A, Pangkanon S.

Blood Cells Mol Dis. 2007 Nov-Dec;39(3):348-52. Epub 2007 Aug 8.

PMID:
17689991
19.

New perspectives in type 2 Gaucher disease.

Sidransky E.

Adv Pediatr. 1997;44:73-107. Review. No abstract available.

PMID:
9265968
20.

Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient.

Rockah R, Narinsky R, Hatskelzon L, Frisch A.

Am J Med Genet. 1997 Oct 3;72(1):77-8.

PMID:
9295080

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