Detalhe da pesquisa
1.
Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis.
Mol Genet Metab
; 140(1-2): 107632, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37407323
2.
Performance of OC-Auto Micro 80 Fecal Immunochemical Test in an Integrated Academic-Community Health System.
J Clin Gastroenterol
; 2023 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37983772
3.
Detecting 22q11.2 Deletion Syndrome in Newborns with Low T Cell Receptor Excision Circles from Severe Combined Immunodeficiency Screening.
J Pediatr
; 204: 219-224.e1, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30268402
4.
Taiwan National Newborn Screening Program by Tandem Mass Spectrometry for Mucopolysaccharidoses Types I, II, and VI.
J Pediatr
; 205: 176-182, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30409495
5.
Unexpected Fentanyl Detection during a Liver Transplant Evaluation.
Clin Chem
; 69(3): 222-225, 2023 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36857214
6.
Functional and biological studies of α-galactosidase A variants with uncertain significance from newborn screening in Taiwan.
Mol Genet Metab
; 123(2): 140-147, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28615118
7.
Mass Spectrometry but Not Fluorimetry Distinguishes Affected and Pseudodeficiency Patients in Newborn Screening for Pompe Disease.
Clin Chem
; 63(7): 1271-1277, 2017 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-28450385
8.
Lymphocyte Galactocerebrosidase Activity by LC-MS/MS for Post-Newborn Screening Evaluation of Krabbe Disease.
Clin Chem
; 63(8): 1363-1369, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28592445
9.
Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples.
Clin Chem
; 62(1): 279-86, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26585924
10.
Very Early Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes.
J Pediatr
; 169: 174-80.e1, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26685070
11.
Benzodiazepine analysis by an improved LC-MS/MS method illustrates usage patterns in Washington State.
Clin Chim Acta
; 543: 117274, 2023 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36934953
12.
Multiplex Lysosomal Enzyme Activity Assay on Dried Blood Spots Using Tandem Mass Spectrometry.
Methods Mol Biol
; 2546: 261-269, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36127596
13.
A Second-generation opioid LC-MS/MS assay improves laboratory workflow and capacity.
J Chromatogr B Analyt Technol Biomed Life Sci
; 1210: 123438, 2022 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36087536
14.
Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II.
Int J Neonatal Screen
; 8(1)2022 Jan 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-35225932
15.
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories.
Int J Neonatal Screen
; 8(4)2022 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36547379
16.
Laboratory Test Ordering Patterns in Pediatrics From Naturopaths and General Practitioners.
Am J Clin Pathol
; 156(5): 787-793, 2021 Oct 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33978163
17.
Galactocerebrosidase activity by liquid-chromatography tandem mass spectrometry for clinical diagnosis of Krabbe disease.
Clin Chim Acta
; 519: 300-305, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34015306
18.
Very rare condition of multiple Gaucheroma: A case report and review of the literature.
Mol Genet Metab Rep
; 20: 100473, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31193028
19.
Very rare condition of multiple Gaucheroma: A case report and review of the literature.
Mol Genet Metab Rep
; 20: 100489, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31341788
20.
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups.
Orphanet J Rare Dis
; 14(1): 73, 2019 04 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30940196