Detalhe da pesquisa
1.
An evaluation of untargeted metabolomics methods to characterize inborn errors of metabolism.
Mol Genet Metab
; 141(1): 108115, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181458
2.
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
J Med Genet
; 2022 Jul 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35790351
3.
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
4.
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
5.
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
6.
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
7.
Correction to: Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
Metab Brain Dis
; 35(5): 849-850, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32306187
8.
Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes.
Metab Brain Dis
; 35(4): 601-614, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32172518
9.
Temporal metabolomics in dried bloodspots suggests multipathway disruptions in aldh5a1-/- mice, a model of succinic semialdehyde dehydrogenase deficiency.
Mol Genet Metab
; 128(4): 397-408, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31699650
10.
A novel phosphoglucomutase-deficient mouse model reveals aberrant glycosylation and early embryonic lethality.
J Inherit Metab Dis
; 42(5): 998-1007, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31077402
11.
Precision newborn screening for lysosomal disorders.
Genet Med
; 20(8): 847-854, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29120458
12.
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
13.
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
14.
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
15.
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
16.
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
17.
Parameters of immunoglobulin extraction from dried blood spot cards and immunoassays for detection of antibody response to pathogens including the novel SARS-CoV-2.
J Immunol Methods
; 492: 112996, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33582147
18.
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
19.
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
20.
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