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Results: 1 to 20 of 98

1.

Atypical Features in a Case of Lethal Perinatal Gaucher Disease.

Frosk P, Phillips SM, Del Bigio MR, Chodirker BN.

Neuropathol Appl Neurobiol. 2014 Feb 12. doi: 10.1111/nan.12122. [Epub ahead of print] No abstract available.

PMID:
24707850
[PubMed - as supplied by publisher]
2.

Perinatal-lethal Gaucher disease.

Mignot C, Gelot A, Bessières B, Daffos F, Voyer M, Menez F, Fallet Bianco C, Odent S, Le Duff D, Loget P, Fargier P, Costil J, Josset P, Roume J, Vanier MT, Maire I, Billette de Villemeur T.

Am J Med Genet A. 2003 Jul 30;120A(3):338-44.

PMID:
12838552
[PubMed - indexed for MEDLINE]
3.

Perinatal lethal phenotype with generalized ichthyosis in a type 2 Gaucher disease patient with the [L444P;E326K]/P182L genotype: effect of the E326K change in neonatal and classic forms of the disease.

Chabás A, Gort L, Díaz-Font A, Montfort M, Santamaría R, Cidrás M, Grinberg D, Vilageliu L.

Blood Cells Mol Dis. 2005 Sep-Oct;35(2):253-8.

PMID:
15967693
[PubMed - indexed for MEDLINE]
4.

Perinatal lethal Gaucher disease.

Plakkal N, Soraisham AS, Jirapradittha J, Pinto-Rojas A.

Indian J Pediatr. 2011 Jan;78(1):106-8. doi: 10.1007/s12098-010-0247-2. Epub 2010 Oct 6.

PMID:
20924719
[PubMed - indexed for MEDLINE]
5.

A newborn case with perinatal-lethal Gaucher disease due to R463H homozygosity complicated by C677T homozygosity in the MTHFR gene.

Akdag A, Oğuz SS, Ezgü F, Erdeve O, Uraş N, Dilmen U.

J Pediatr Endocrinol Metab. 2011;24(5-6):381-3.

PMID:
21823541
[PubMed - indexed for MEDLINE]
6.

Perinatal lethal Gaucher disease: a distinct phenotype along the neuronopathic continuum.

Eblan MJ, Goker-Alpan O, Sidransky E.

Fetal Pediatr Pathol. 2005 Jul-Oct;24(4-5):205-22. Review.

PMID:
16396828
[PubMed - indexed for MEDLINE]
7.

Type 2 Gaucher disease: 15 new cases and review of the literature.

Mignot C, Doummar D, Maire I, De Villemeur TB; French Type 2 Gaucher Disease Study Group.

Brain Dev. 2006 Jan;28(1):39-48. Review.

PMID:
16485335
[PubMed - indexed for MEDLINE]
8.

Is the perinatal lethal form of Gaucher disease more common than classic type 2 Gaucher disease?

Stone DL, van Diggelen OP, de Klerk JB, Gaillard JL, Niermeijer MF, Willemsen R, Tayebi N, Sidransky E.

Eur J Hum Genet. 1999 May-Jun;7(4):505-9.

PMID:
10352942
[PubMed - indexed for MEDLINE]
Free Article
9.

Gaucher disease with prenatal onset and perinatal death due to compound heterozygosity for the missense R131C and null Rec Nci I GBA mutations.

Goebl A, Ferrier RA, Ferreira P, Pinto-Rojas A, Matshes E, Choy FY.

Pediatr Dev Pathol. 2011 May-Jun;14(3):240-3. doi: 10.2350/09-11-0744-CR.1. Epub 2010 Oct 14.

PMID:
20946052
[PubMed - indexed for MEDLINE]
10.

Congenital ichthyosis preceding neurologic symptoms in two sibs with type 2 Gaucher disease.

Fujimoto A, Tayebi N, Sidransky E.

Am J Med Genet. 1995 Nov 20;59(3):356-8.

PMID:
8599361
[PubMed - indexed for MEDLINE]
11.

Neonatal cholestasis as initial manifestation of type 2 Gaucher disease: a continuum in the spectrum of early onset Gaucher disease.

Elias AF, Johnson MR, Boitnott JK, Valle D.

JIMD Rep. 2012;5:95-8. doi: 10.1007/8904_2011_104. Epub 2011 Dec 11.

PMID:
23430923
[PubMed]
Free PMC Article
12.

Type 2 Gaucher disease: the collodion baby phenotype revisited.

Stone DL, Carey WF, Christodoulou J, Sillence D, Nelson P, Callahan M, Tayebi N, Sidransky E.

Arch Dis Child Fetal Neonatal Ed. 2000 Mar;82(2):F163-6.

PMID:
10685993
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Congenital ichthyosis with restrictive dermopathy and Gaucher disease: a new syndrome with associated prenatal diagnostic and pathology findings.

Sherer DM, Metlay LA, Sinkin RA, Mongeon C, Lee RE, Woods JR Jr.

Obstet Gynecol. 1993 May;81(5 ( Pt 2)):842-4.

PMID:
8469493
[PubMed - indexed for MEDLINE]
14.

[Phenotype and mutational spectrum in Tunisian pediatric gaucher disease].

Ben Turkia H, Riahi I, Azzouz H, Ladab S, Cherif W, Ben Chehida A, Abdelmoula MS, Caillaud C, Chemli J, Abdelhak S, Tebib N, Ben Dridi MF.

Tunis Med. 2010 Mar;88(3):158-62. French.

PMID:
20415187
[PubMed - indexed for MEDLINE]
Free Article
15.

Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease.

Nilsson O, Svennerholm L.

J Neurochem. 1982 Sep;39(3):709-18.

PMID:
7097276
[PubMed - indexed for MEDLINE]
16.

Keratitis, ichthyosis, and deafness (KID) syndrome with cerebellar hypoplasia.

Hsu HC, Lin GS, Li WM.

Int J Dermatol. 1988 Dec;27(10):695-7. Erratum in: Int J Dermatol 1989 Jan-Feb;28(1):43.

PMID:
3235255
[PubMed - indexed for MEDLINE]
17.

The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.

Sidransky E, Tayebi N, Stubblefield BK, Eliason W, Klineburgess A, Pizzolato GP, Cox JN, Porta J, Bottani A, DeLozier-Blanchet CD.

J Med Genet. 1996 Feb;33(2):132-6.

PMID:
8929950
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

[Gaucher disease--one of the possible causes of splenomegaly--case report].

Sokołowska B, Skomra D, Czartoryska B, Tomczak W, Tylki-Szymańska A, Repelewska M, Drop A, Gromek T.

Pol Arch Med Wewn. 2004 Sep;112(3):1107-12. Polish.

PMID:
15727093
[PubMed - indexed for MEDLINE]
19.
20.

Enzyme therapy in Gaucher disease type 1: dosage efficacy and adverse effects in 33 patients treated for 6 to 24 months.

Pastores GM, Sibille AR, Grabowski GA.

Blood. 1993 Jul 15;82(2):408-16.

PMID:
8392397
[PubMed - indexed for MEDLINE]
Free Article

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