Detalhe da pesquisa
1.
Acetyl-l-carnitine deficiency in patients with major depressive disorder.
Proc Natl Acad Sci U S A
; 115(34): 8627-8632, 2018 08 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-30061399
2.
Glycocalyx breakdown is increased in African children with cerebral and uncomplicated falciparum malaria.
FASEB J
; 33(12): 14185-14193, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31658834
3.
Kinetic and Cross-Sectional Studies on the Genesis of Hypoargininemia in Severe Pediatric Plasmodium falciparum Malaria.
Infect Immun
; 87(4)2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30718287
4.
The Role of Technology in Newborn Screening.
N C Med J
; 80(1): 49-53, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30622207
5.
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variant.
Am J Med Genet A
; 176(3): 692-698, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388319
6.
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia.
Hum Mol Genet
; 23(18): 5009-16, 2014 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24847004
7.
A straightforward, quantitative ultra-performance liquid chromatography-tandem mass spectrometric method for heparan sulfate, dermatan sulfate and chondroitin sulfate in urine: an improved clinical screening test for the mucopolysaccharidoses.
Mol Genet Metab
; 114(2): 123-8, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25458519
8.
How mass spectrometry revolutionized newborn screening.
J Mass Spectrom Adv Clin Lab
; 32: 1-10, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38333514
9.
Rapid assays for Gaucher and Hurler diseases in dried blood spots using digital microfluidics.
Mol Genet Metab
; 109(2): 218-20, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23578771
10.
Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency.
Mol Genet Metab
; 109(2): 215-7, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23583224
11.
Quantification of Glycosaminoglycans in Urine by Isotope-Dilution Liquid Chromatography-Electrospray Ionization Tandem Mass Spectrometry.
Curr Protoc
; 3(3): e701, 2023 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-36929617
12.
Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.
Am J Med Genet C Semin Med Genet
; 160C(1): 50-8, 2012 Feb 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22252961
13.
A novel fluorometric enzyme analysis method for Hunter syndrome using dried blood spots.
Mol Genet Metab
; 105(3): 519-21, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22227323
14.
Extraction and analysis of carnitine and acylcarnitines by electrospray ionization tandem mass spectrometry directly from dried blood and plasma spots using a novel autosampler.
Rapid Commun Mass Spectrom
; 26(21): 2548-54, 2012 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23008072
15.
The Editor's Choice for Issue 4, Volume 7.
Int J Neonatal Screen
; 8(1)2022 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35323200
16.
Addition of MPS-II to the Recommended Uniform Screening Panel in the United States.
Int J Neonatal Screen
; 8(4)2022 Oct 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36278625
17.
Successful Implementation of Expanded Newborn Screening in the Philippines Using Tandem Mass Spectrometry.
Int J Neonatal Screen
; 8(1)2022 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-35225931
18.
Individual responses to chemotherapy-induced oxidative stress.
Breast Cancer Res Treat
; 125(2): 583-9, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-20830514
19.
Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?
Clin Chem
; 62(11): 1430-1438, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27630153
20.
Analysis of glycosaminoglycans in cerebrospinal fluid from patients with mucopolysaccharidoses by isotope-dilution ultra-performance liquid chromatography-tandem mass spectrometry.
Clin Chem
; 57(7): 1005-12, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21576268