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1.
Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital.
Blood Cells Mol Dis;
98: 102704, 2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36265282
2.
TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.
Clin Immunol;
191: 44-51, 2018 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-29572183
3.
Assessment of plasma chitotriosidase activity, CCL18/PARC concentration and NP-C suspicion index in the diagnosis of Niemann-Pick disease type C: a prospective observational study.
J Transl Med;
15(1): 43, 2017 02 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-28222799
4.
Increased secretory sphingomyelinase activity in the first trimester of pregnancy in women later developing preeclampsia: a nested case-control study.
Biol Chem;
397(3): 269-79, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26756094
5.
Angiogenic Factors and Doppler Evaluation in Normally Growing Fetuses at Routine Third-Trimester Scan: Prediction of Subsequent Low Birth Weight.
Fetal Diagn Ther;
40(1): 13-20, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-26421431
6.
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.
Proteins;
83(1): 91-104, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25382311
7.
First trimester screening for early and late preeclampsia based on maternal characteristics, biophysical parameters, and angiogenic factors.
Prenat Diagn;
35(2): 183-91, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25346181
8.
Fluorescent molecular peroxidation products: a prognostic biomarker of early neurologic deterioration after thrombolysis.
Stroke;
45(2): 432-7, 2014 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-24335228
9.
Added value of angiogenic factors for the prediction of early and late preeclampsia in the first trimester of pregnancy.
Fetal Diagn Ther;
35(4): 258-66, 2014.
Artículo
en Inglés
| MEDLINE | ID: mdl-24714555
10.
Cord Blood Cardiovascular Biomarkers in Left-Sided Congenital Heart Disease.
J Clin Med;
11(23)2022 Nov 30.
Artículo
en Inglés
| MEDLINE | ID: mdl-36498692
11.
Oxidative stress after thrombolysis-induced reperfusion in human stroke.
Stroke;
41(4): 653-60, 2010 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-20185784
12.
Angiogenic Factors and Long-Term Cardiovascular Risk in Women That Developed Preeclampsia During Pregnancy.
Hypertension;
76(6): 1808-1816, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33012203
13.
Defective thermoregulation, impaired lipid metabolism, but preserved adrenergic induction of gene expression in brown fat of mice lacking C/EBPbeta.
Biochem J;
389(Pt 1): 47-56, 2005 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-15762841
14.
Association of first-trimester angiogenic factors with placental histological findings in late-onset preeclampsia.
Placenta;
42: 44-50, 2016 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-27238713
15.
Intracellular oxidant activity, antioxidant enzyme defense system, and cell senescence in fibroblasts with trisomy 21.
Oxid Med Cell Longev;
2015: 509241, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25852816
16.
Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases.
PLoS One;
10(8): e0135873, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26287674
17.
Immobilization stress alters intermediate metabolism and circulating lipoproteins in the rat.
Metabolism;
51(7): 925-31, 2002 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-12077743
18.
Prognostic value of plasma chitotriosidase activity in acute stroke patients.
Int J Stroke;
9(7): 910-6, 2014 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-24148838
19.
Study of biomaterial-induced macrophage activation, cell-mediated immune response and molecular oxidative damage in patients with dermal bioimplants.
Immunobiology;
217(1): 44-53, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-21903293
20.
Integrated approach to produce a recombinant, His-tagged human α-galactosidase A in mammalian cells.
Biotechnol Prog;
27(5): 1206-17, 2011.
Artículo
en Inglés
| MEDLINE | ID: mdl-21618456