Detalhe da pesquisa
1.
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
J Inherit Metab Dis
; 42(1): 107-116, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740739
2.
Application of a policy framework for the public funding of drugs for rare diseases.
J Gen Intern Med
; 29 Suppl 3: S774-9, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25029973
3.
Toward a functional definition of a "rare disease" for regulatory authorities and funding agencies.
Value Health
; 17(8): 757-61, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25498770
4.
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.
Genet Med
; 15(12): 983-9, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23680766
5.
Urinary globotriaosylsphingosine-related biomarkers for Fabry disease targeted by metabolomics.
Anal Chem
; 84(6): 2745-53, 2012 Mar 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-22309310
6.
An evaluation framework for funding drugs for rare diseases.
Value Health
; 15(6): 982-6, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22999151
7.
Source document verification in the Mucopolysaccharidosis Type I Registry.
Pharmacoepidemiol Drug Saf
; 21(7): 749-752, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22170853
8.
Systolic myocardial mechanics in patients with Anderson-Fabry disease with and without left ventricular hypertrophy and in comparison to nonobstructive hypertrophic cardiomyopathy.
Echocardiography
; 29(7): 810-7, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22497597
9.
An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay-Sachs or Sandhoff variants).
Mol Genet Metab
; 102(1): 6-12, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20926324
10.
Efficient analysis of urinary glycosaminoglycans by LC-MS/MS in mucopolysaccharidoses type I, II and VI.
Mol Genet Metab
; 102(1): 49-56, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20934363
11.
X-linked adrenoleukodystrophy: ABCD1 de novo mutations and mosaicism.
Mol Genet Metab
; 104(1-2): 160-6, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21700483
12.
Impact of measures to enhance the value of observational surveys in rare diseases: the Fabry Outcome Survey (FOS).
Value Health
; 14(6): 862-6, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21914507
13.
An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.
Hum Mutat
; 31(4): 380-90, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20052767
14.
A validated disease severity scoring system for Fabry disease.
Mol Genet Metab
; 99(3): 283-90, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-19951842
15.
Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease.
J Pediatr
; 156(5): 832-7, 837.e1, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20097359
16.
Childhood onset of Scheie syndrome, the attenuated form of mucopolysaccharidosis I.
J Inherit Metab Dis
; 33(4): 421-7, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20532982
17.
Agalsidase alfa and kidney dysfunction in Fabry disease.
J Am Soc Nephrol
; 20(5): 1132-9, 2009 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-19357250
18.
Hunter disease eClinic: interactive, computer-assisted, problem-based approach to independent learning about a rare genetic disease.
BMC Med Educ
; 10: 72, 2010 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-20973983
19.
Fabry disease urinary globotriaosylceramide/creatinine biomarker evaluation by liquid chromatography-tandem mass spectrometry in healthy infants from birth to 6 months.
Mol Genet Metab
; 97(4): 278-83, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19464216
20.
A dose-optimization trial of laronidase (Aldurazyme) in patients with mucopolysaccharidosis I.
Mol Genet Metab
; 96(1): 13-9, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19038563