Detalhe da pesquisa
1.
Precision newborn screening for lysosomal disorders.
Genet Med
; 20(8): 847-854, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29120458
2.
Cerebrospinal fluid 2-hydroxyglutarate (2-HG) as a monitoring biomarker for IDH-mutant gliomas.
medRxiv
; 2023 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36909488
3.
Genetic therapy in a mitochondrial disease model suggests a critical role for liver dysfunction in mortality.
Elife
; 112022 Nov 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-36408801
4.
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I.
Int J Neonatal Screen
; 6(1): 10, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33073008
5.
A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Int J Neonatal Screen
; 6(2)2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32802993
6.
Cerebrospinal fluid 2-hydroxyglutarate as a monitoring biomarker for IDH-mutant gliomas.
Neurooncol Adv
; 5(1): vdad061, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37313502
7.
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia.
J Clin Endocrinol Metab
; 89(8): 3687-93, 2004 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-15292289
8.
Potential of inner cell mass outgrowth and amino acid turnover as markers of quality in the in vitro fertilization laboratory.
Fertil Steril
; 98(4): 863-9.e1, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22771026
9.
Comparison of multiple steroid concentrations in serum and dried blood spots throughout the day of patients with congenital adrenal hyperplasia.
Horm Res Paediatr
; 75(1): 19-25, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-20798478
10.
Second-tier test for quantification of alloisoleucine and branched-chain amino acids in dried blood spots to improve newborn screening for maple syrup urine disease (MSUD).
Clin Chem
; 54(3): 542-9, 2008 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18178665
11.
Detection of hypo-N-glycosylation using mass spectrometry of transferrin.
Curr Protoc Hum Genet
; Chapter 17: Unit 17.4, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18428410
12.
Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry.
Clin Chem
; 50(3): 621-5, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14656905