Detalhe da pesquisa
1.
Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.
J Med Genet
; 52(4): 262-8, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25596309
2.
Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography-tandem mass spectrometry.
J Lipid Res
; 56(4): 936-43, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25632048
3.
Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry.
Clin Chem
; 59(3): 547-56, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23237761
4.
Reduction of elevated plasma globotriaosylsphingosine in patients with classic Fabry disease following enzyme replacement therapy.
Biochim Biophys Acta
; 1812(1): 70-6, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20851180
5.
Analysis of urinary oligosaccharides in lysosomal storage disorders by capillary high-performance anion-exchange chromatography-mass spectrometry.
Anal Bioanal Chem
; 403(6): 1671-83, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22526647
6.
Mucopolysaccharidosis type IIIA: clinical spectrum and genotype-phenotype correlations.
Ann Neurol
; 68(6): 876-87, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21061399
7.
Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.
J Inherit Metab Dis
; 34(3): 605-19, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21445610
8.
Elevated globotriaosylsphingosine is a hallmark of Fabry disease.
Proc Natl Acad Sci U S A
; 105(8): 2812-7, 2008 Feb 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-18287059
9.
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Hum Mutat
; 31(5): E1348-60, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20232353
10.
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype.
J Inherit Metab Dis
; 33(6): 759-67, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20852935
11.
Cord blood Clara cell protein CC16 predicts the development of bronchopulmonary dysplasia.
Eur J Pediatr
; 167(11): 1305-12, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18521627
12.
Gene expression profile and histopathology of experimental bronchopulmonary dysplasia induced by prolonged oxidative stress.
Free Radic Biol Med
; 36(6): 782-801, 2004 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-14990357
13.
Pentoxifylline reduces fibrin deposition and prolongs survival in neonatal hyperoxic lung injury.
J Appl Physiol (1985)
; 97(5): 2014-9, 2004 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-15208286
14.
Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.
PLoS One
; 7(10): e47805, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23094092
15.
Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine.
Hypertension
; 60(4): 998-1005, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22868390
16.
Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients.
Orphanet J Rare Dis
; 6: 69, 2011 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-22041095
17.
Glycan profiling of urine, amniotic fluid and ascitic fluid from galactosialidosis patients reveals novel oligosaccharides with reducing end hexose and aldohexonic acid residues.
FEBS J
; 277(14): 2970-86, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20546307
18.
Mannose phosphorylation in health and disease.
Eur J Cell Biol
; 89(1): 117-23, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19945768
19.
Inhaled nitric oxide attenuates pulmonary inflammation and fibrin deposition and prolongs survival in neonatal hyperoxic lung injury.
Am J Physiol Lung Cell Mol Physiol
; 293(1): L35-44, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17384081
20.
HPLC for simultaneous quantification of total ceramide, glucosylceramide, and ceramide trihexoside concentrations in plasma.
Clin Chem
; 53(4): 742-7, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17332150