Detalhe da pesquisa
1.
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.
Am J Hum Genet
; 100(2): 281-296, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132690
2.
Slc22a5 haploinsufficiency does not aggravate the phenotype of the long-chain acyl-CoA dehydrogenase KO mouse.
J Inherit Metab Dis
; 43(3): 486-495, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31845336
3.
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.
Ann Neurol
; 82(5): 686-696, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29023963
4.
Microvascular Permeability after an Acute and Chronic Salt Load in Healthy Subjects: A Randomized Open-label Crossover Intervention Study.
Anesthesiology
; 128(2): 352-360, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29206647
5.
Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry.
J Inherit Metab Dis
; 40(1): 151-158, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27718145
6.
Transorgan fluxes in a porcine model reveal a central role for liver in acylcarnitine metabolism.
Am J Physiol Endocrinol Metab
; 309(3): E256-64, 2015 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26037250
7.
Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy.
Mol Genet Metab
; 114(2): 129-37, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25467058
8.
Supplementing pregnant mice with a specific mixture of nondigestible oligosaccharides reduces symptoms of allergic asthma in male offspring.
J Nutr
; 145(3): 640-6, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25733483
9.
Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses.
Mol Genet Metab
; 113(1-2): 92-9, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25092413
10.
Genistein increases glycosaminoglycan levels in mucopolysaccharidosis type I cell models.
J Inherit Metab Dis
; 37(5): 813-21, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24699889
11.
Effect of dietary lipid structure in early postnatal life on mouse adipose tissue development and function in adulthood.
Br J Nutr
; 111(2): 215-26, 2014 Jan 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23845308
12.
Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans.
J Inherit Metab Dis
; 36(2): 247-55, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22991166
13.
In vitro alternative for reactogenicity assessment of outer membrane vesicle based vaccines.
Sci Rep
; 13(1): 12675, 2023 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37542099
14.
Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III.
Mol Genet Metab
; 107(4): 705-10, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23084433
15.
Dietary fatty acids affect the immune system in male mice sensitized to ovalbumin or vaccinated with influenza.
J Nutr
; 141(4): 698-702, 2011 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-21346107
16.
Perturbed body fluid distribution and osmoregulation in response to high salt intake in patients with hereditary multiple exostoses.
Mol Genet Metab Rep
; 29: 100797, 2021 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-34815940
17.
Identification and characterization of a complete carnitine biosynthesis pathway in Candida albicans.
FASEB J
; 23(8): 2349-59, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19289605
18.
The Role of Virulence Proteins in Protection Conferred by Bordetella pertussis Outer Membrane Vesicle Vaccines.
Vaccines (Basel)
; 8(3)2020 Jul 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-32751680
19.
Abnormal sodium and water homeostasis in mice with defective heparan sulfate polymerization.
PLoS One
; 14(7): e0220333, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31365577
20.
PPAR alpha-activation results in enhanced carnitine biosynthesis and OCTN2-mediated hepatic carnitine accumulation.
Biochim Biophys Acta
; 1767(9): 1134-42, 2007 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-17692817