Detalhe da pesquisa
1.
Exploratory Untargeted Metabolomics of Dried Blood Spot Samples from Newborns with Maple Syrup Urine Disease.
Int J Mol Sci
; 25(11)2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38891907
2.
Multi-Omics Profiling in PGM3 and STAT3 Deficiencies: A Tale of Two Patients.
Int J Mol Sci
; 24(3)2023 Jan 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768728
3.
Metabolomics Profiling of Nephrotic Syndrome towards Biomarker Discovery.
Int J Mol Sci
; 23(20)2022 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36293474
4.
Distinctive metabolic profiles between Cystic Fibrosis mutational subclasses and lung function.
Metabolomics
; 17(1): 4, 2021 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33394183
5.
Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation.
J Allergy Clin Immunol
; 146(1): 192-202, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31862378
6.
Dried Blood Spot-Based Metabolomic Profiling in Adults with Cystic Fibrosis.
J Proteome Res
; 19(6): 2346-2357, 2020 06 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32312052
7.
Metabolomics toward personalized medicine.
Mass Spectrom Rev
; 38(3): 221-238, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29073341
8.
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Clin Genet
; 95(2): 310-319, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30561787
9.
Quantitative profiling of cytokines and chemokines in DOCK8-deficient and atopic dermatitis patients.
Allergy
; 74(2): 370-379, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30252138
10.
Proteomic Analysis of Morphologically Changed Tissues after Prolonged Dexamethasone Treatment.
Int J Mol Sci
; 20(13)2019 Jun 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31247941
11.
Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.
J Paediatr Child Health
; 53(6): 585-591, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28337809
12.
Tysnd1 deficiency in mice interferes with the peroxisomal localization of PTS2 enzymes, causing lipid metabolic abnormalities and male infertility.
PLoS Genet
; 9(2): e1003286, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23459139
13.
Metabolomics profiling distinctively identified end-stage renal disease patients from chronic kidney disease patients.
Sci Rep
; 13(1): 6161, 2023 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37061630
14.
Metabolomics Profiling of Cystic Renal Disease towards Biomarker Discovery.
Biology (Basel)
; 10(8)2021 Aug 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34440002
15.
Proteomics Profiling to Distinguish DOCK8 Deficiency From Atopic Dermatitis.
Front Allergy
; 2: 774902, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35386989
16.
Metabolomics Distinguishes DOCK8 Deficiency from Atopic Dermatitis: Towards a Biomarker Discovery.
Metabolites
; 9(11)2019 Nov 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31718082
17.
Improved method to determine succinylacetone in dried blood spots for diagnosis of tyrosinemia type 1 using UPLC-MS/MS.
Biomed Chromatogr
; 22(11): 1181-5, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18651606
18.
A targeted metabolomics approach for clinical diagnosis of inborn errors of metabolism.
Anal Chim Acta
; 1025: 141-153, 2018 Sep 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29801603
19.
Metabolomics Based Profiling of Dexamethasone Side Effects in Rats.
Front Pharmacol
; 9: 46, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29503615
20.
Quantification of succinylacetone in urine of hepatorenal tyrosinemia patients by HPLC with fluorescence detection.
Clin Chim Acta
; 365(1-2): 243-8, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16243307