Detalhe da pesquisa
1.
Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.
Dev Med Child Neurol
; 60(6): 579-586, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29573408
2.
A long term follow-up study of the development of hip disease in Mucopolysaccharidosis type VI.
Mol Genet Metab
; 121(3): 241-251, 2017 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28552677
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.
Quality of life and participation in daily life of adults with Pompe disease receiving enzyme replacement therapy: 10 years of international follow-up.
J Inherit Metab Dis
; 39(2): 253-60, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26531313
5.
Long-term cognitive follow-up in children treated for Maroteaux-Lamy syndrome.
J Inherit Metab Dis
; 39(2): 285-92, 2016 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-26450354
6.
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
7.
Pain: a prevalent feature in patients with mucopolysaccharidosis. Results of a cross-sectional national survey.
J Inherit Metab Dis
; 38(2): 323-31, 2015 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-25048386
8.
Up to five years experience with 11 mucopolysaccharidosis type VI patients.
Mol Genet Metab
; 109(1): 70-6, 2013 May.
Artigo
Inglês
| MEDLINE | ID: mdl-23523338
9.
Enzyme replacement therapy and fatigue in adults with Pompe disease.
Mol Genet Metab
; 109(2): 174-8, 2013 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-23603069
10.
Innovations in medical care and mortality trends from four circulatory diseases between 1970 and 2005.
Eur J Public Health
; 23(5): 852-7, 2013 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23478209
11.
Socioeconomic inequalities in mortality from conditions amenable to medical interventions: do they reflect inequalities in access or quality of health care?
BMC Public Health
; 12: 346, 2012 May 11.
Artigo
Inglês
| MEDLINE | ID: mdl-22578154
12.
Cause-specific mortality time series analysis: a general method to detect and correct for abrupt data production changes.
Popul Health Metr
; 9: 52, 2011 Sep 19.
Artigo
Inglês
| MEDLINE | ID: mdl-21929756
13.
Hepatitis C and health-related quality of life among patients with hemophilia.
Haematologica
; 90(6): 846-50, 2005 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-15951299
14.
Innovations in health care and mortality trends from five cancers in seven European countries between 1970 and 2005.
Int J Public Health
; 59(2): 341-50, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23989709
15.
The timing of introduction of pharmaceutical innovations in seven European countries.
J Eval Clin Pract
; 20(4): 301-10, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24750393
16.
Cost-effectiveness of enzyme replacement therapy with alglucosidase alfa in classic-infantile patients with Pompe disease.
Orphanet J Rare Dis
; 9: 75, 2014 May 16.
Artigo
Inglês
| MEDLINE | ID: mdl-24884717
17.
Amenable mortality revisited: the AMIEHS study.
Gac Sanit
; 27(3): 199-206, 2013.
Artigo
Inglês
| MEDLINE | ID: mdl-23207428
18.
Using 'amenable mortality' as indicator of healthcare effectiveness in international comparisons: results of a validation study.
J Epidemiol Community Health
; 67(2): 139-46, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23012400
19.
Impact of enzyme replacement therapy on survival in adults with Pompe disease: results from a prospective international observational study.
Orphanet J Rare Dis
; 8: 49, 2013 Mar 27.
Artigo
Inglês
| MEDLINE | ID: mdl-23531252
20.
Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase.
Orphanet J Rare Dis
; 8: 51, 2013 Apr 04.
Artigo
Inglês
| MEDLINE | ID: mdl-23557332