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1.
Loading of cell cultures with cholesterol-dextran particles as a new functional test for Niemann-Pick type C disease.
J Inherit Metab Dis
; 45(3): 584-592, 2022 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35088900
2.
Specific storage of glycoconjugates with terminal α-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B.
Glycobiology
; 28(6): 382-391, 2018 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-29548035
3.
Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II.
J Inherit Metab Dis
; 41(2): 221-229, 2018 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-29168031
4.
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.
Blood
; 135(26): 2427-2431, 2020 06 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-32276275
5.
Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging.
Anal Bioanal Chem
; 407(8): 2283-91, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25542581
6.
Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A (GLA) deletions causing Fabry disease.
Hum Mutat
; 32(6): 688-95, 2011 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21305660
7.
Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion.
Mol Genet Metab
; 104(3): 314-8, 2011 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-21641253
8.
Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke.
Stroke
; 41(1): 78-81, 2010 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-20007919
9.
Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).
Hum Mutat
; 30(10): 1397-405, 2009 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-19621417
10.
IPSC-Derived Corneal Endothelial-like Cells Act as an Appropriate Model System to Assess the Impact of SLC4A11 Variants on Pre-mRNA Splicing.
Invest Ophthalmol Vis Sci
; 60(8): 3084-3090, 2019 07 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-31323090
11.
Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.
Virchows Arch
; 452(6): 651-65, 2008 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-18351385
12.
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.
Am J Ophthalmol
; 143(4): 663-71, 2007 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-17239335
13.
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.
J Mol Med (Berl)
; 83(8): 647-54, 2005 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-15806320
14.
Characterization of gana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate alpha-galactosidase and alpha-N-acetylgalactosaminidase.
BMC Cell Biol
; 6(1): 5, 2005 Jan 27.
Artículo
en Inglés
| MEDLINE | ID: mdl-15676072
15.
A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population.
Nephrol Dial Transplant
; 22(1): 179-86, 2007 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-17040996
16.
Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation.
Am J Med Genet A
; 134A(1): 84-7, 2005 Apr 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-15712198
17.
Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.
J Lipid Res
; 43(7): 1096-104, 2002 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-12091494
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