Detalhe da pesquisa
1.
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Hum Mutat
; 40(11): 1954-1967, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31254424
2.
Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.
Genet Med
; 19(1): 90-97, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27362911
3.
Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.
Dev Med Child Neurol
; 59(10): 1063-1070, 2017 10.
Artigo
Inglês
| MEDLINE | ID: mdl-28543354
4.
Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approach.
Hum Mutat
; 36(1): 57-68, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25243733
5.
Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease.
J Inherit Metab Dis
; 38(2): 305-14, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-24715333
6.
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants.
Hum Mutat
; 33(8): 1161-5, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22644586
7.
The genotype-phenotype correlation in Pompe disease.
Am J Med Genet C Semin Med Genet
; 160C(1): 59-68, 2012 Feb 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22253258
8.
Response to Herbert et al.
Genet Med
; 19(11): 1283-1284, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28661488
9.
Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
Mol Genet Metab
; 107(3): 485-9, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-23000108
10.
Lentiviral gene therapy of murine hematopoietic stem cells ameliorates the Pompe disease phenotype.
Blood
; 115(26): 5329-37, 2010 Jul 01.
Artigo
Inglês
| MEDLINE | ID: mdl-20385789
11.
Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots.
Mol Genet Metab
; 103(1): 12-7, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21320792
12.
Design and validation of a metabolic disorder resequencing microarray (BRUM1).
Hum Mutat
; 31(7): 858-65, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20578233
13.
High antibody titer in an adult with Pompe disease affects treatment with alglucosidase alfa.
Mol Genet Metab
; 101(4): 338-45, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20826098
14.
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population.
Mol Genet Metab
; 97(3): 190-5, 2009 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-19362502
15.
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.
J Hum Genet
; 54(6): 324-30, 2009 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-19343043
16.
Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.
Eur J Hum Genet
; 27(6): 919-927, 2019 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-30737479
17.
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Hum Mutat
; 29(6): E13-26, 2008 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-18425781
18.
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
Eur J Hum Genet
; 16(8): 875-9, 2008 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-18301443
19.
The ACE I/D polymorphism does not explain heterogeneity of natural course and response to enzyme replacement therapy in Pompe disease.
PLoS One
; 13(12): e0208854, 2018.
Artigo
Inglês
| MEDLINE | ID: mdl-30532252
20.
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Hum Mutat
; 23(1): 47-56, 2004 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-14695532