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1.
Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease.
Hum Mol Genet
; 26(6): 1182-1192, 2017 03 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-28158561
2.
Blocking hyperactive androgen receptor signaling ameliorates cardiac and renal hypertrophy in Fabry mice.
Hum Mol Genet
; 24(11): 3181-91, 2015 Jun 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-25701874
3.
Mannose receptor-mediated delivery of moss-made α-galactosidase A efficiently corrects enzyme deficiency in Fabry mice.
J Inherit Metab Dis
; 39(2): 293-303, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26310963
4.
Quantitation of gamma-hydroxybutyric acid in dried blood spots: feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency.
Mol Genet Metab
; 109(3): 255-9, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23742746
5.
Sex differences of urinary and kidney globotriaosylceramide and lyso-globotriaosylceramide in Fabry mice.
J Lipid Res
; 52(9): 1742-6, 2011 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-21747096
6.
Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC-MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis.
Mol Genet Metab
; 101(1): 25-32, 2010 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-20591710
7.
Response to Stove and colleagues concerning newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency in dried blood spots.
Mol Genet Metab
; 110(1-2): 196, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23867525
8.
Falsely elevated urinary Gb3 (globotriaosylceramide, CTH, GL3).
Mol Genet Metab
; 97(1): 91, 2009 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-19243984
9.
Risk of death in heart disease is associated with elevated urinary globotriaosylceramide.
J Am Heart Assoc
; 3(1): e000394, 2014 Feb 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-24496231
10.
Quantitative determination of odanacatib in human plasma using liquid-liquid extraction followed by liquid chromatography-tandem mass spectrometry analysis.
J Chromatogr B Analyt Technol Biomed Life Sci
; 885-886: 15-23, 2012 Feb 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22230741
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