Detalhe da pesquisa
1.
Bile Acid Profiles in Primary Sclerosing Cholangitis and Their Ability to Predict Hepatic Decompensation.
Hepatology
; 74(1): 281-295, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33226645
2.
A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation.
Am J Hum Genet
; 103(4): 553-567, 2018 10 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30290151
3.
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
Am J Med Genet A
; 185(1): 213-218, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33044030
4.
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Genet Med
; 22(6): 1108-1118, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32089546
5.
Precision newborn screening for lysosomal disorders.
Genet Med
; 20(8): 847-854, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29120458
6.
Simultaneous Testing for 6 Lysosomal Storage Disorders and X-Adrenoleukodystrophy in Dried Blood Spots by Tandem Mass Spectrometry.
Clin Chem
; 62(9): 1248-54, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27440509
7.
Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.
Mol Genet Metab
; 114(1): 46-50, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25481105
8.
Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease.
J Inherit Metab Dis
; 38(5): 923-9, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25762404
9.
Enhanced interpretation of newborn screening results without analyte cutoff values.
Genet Med
; 14(7): 648-55, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22766634
10.
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
11.
Validation of a multiplex flow immunoassay for detection of IgG antibodies against SARS-CoV-2 in dried blood spots.
PLoS One
; 16(5): e0252621, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34048503
12.
Detection of SARS-CoV-2 IgG antibodies in dried blood spots.
Diagn Microbiol Infect Dis
; 101(1): 115425, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34116343
13.
Prevalence of SARS-CoV-2 Antibodies in a Multistate Academic Medical Center.
Mayo Clin Proc
; 96(5): 1165-1174, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958053
14.
Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry.
Clin Chem
; 56(11): 1686-95, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20807894
15.
Two-tier approach to the newborn screening of methylenetetrahydrofolate reductase deficiency and other remethylation disorders with tandem mass spectrometry.
J Pediatr
; 157(2): 271-5, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20394947
16.
Achieving Congruence among Reference Laboratories for Absolute Abundance Measurement of Analytes for Rare Diseases: Psychosine for Diagnosis and Prognosis of Krabbe Disease.
Int J Neonatal Screen
; 6(2)2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32373753
17.
Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing.
Int J Neonatal Screen
; 6(2)2020 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-32802992
18.
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
19.
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.
Mol Genet Metab
; 97(3): 212-20, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19423374