Detalhe da pesquisa
1.
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Genet Med
; 25(1): 125-134, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36350326
2.
Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy.
Am J Hum Genet
; 105(3): 534-548, 2019 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31422819
3.
Metabolite Identification Using Infrared Ion SpectroscopyâNovel Biomarkers for Pyridoxine-Dependent Epilepsy.
Anal Chem
; 93(46): 15340-15348, 2021 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-34756024
4.
The role of clinical response to treatment in determining pathogenicity of genomic variants.
Genet Med
; 23(3): 581-585, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087887
5.
A comparison of high-throughput plasma NMR protocols for comparative untargeted metabolomics.
Metabolomics
; 16(5): 64, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32358672
6.
Correction to: A comparison of highthroughput plasma NMR protocols for comparative untargeted metabolomics.
Metabolomics
; 16(6): 67, 2020 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-32435922
7.
The genotypic and phenotypic spectrum of MTO1 deficiency.
Mol Genet Metab
; 123(1): 28-42, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29331171
8.
Unraveling the unknown areas of the human metabolome: the role of infrared ion spectroscopy.
J Inherit Metab Dis
; 41(3): 367-377, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29556837
9.
Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.
J Inherit Metab Dis
; 41(4): 641-646, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28894950
10.
Fast and accurate quantitative organic acid analysis with LC-QTOF/MS facilitates screening of patients for inborn errors of metabolism.
J Inherit Metab Dis
; 41(3): 415-424, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29435781
11.
Structural elucidation of novel biomarkers of known metabolic disorders based on multistage fragmentation mass spectra.
J Inherit Metab Dis
; 41(3): 407-414, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29139026
12.
Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review.
J Inherit Metab Dis
; 41(3): 435-445, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29721916
13.
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patients.
J Inherit Metab Dis
; 41(3): 337-353, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29453510
14.
Targeting the Diagnosis in an Adolescent with Epilepsy and Intellectual Disability through Next-Generation Metabolic Screening.
Clin Chem
; 68(5): 732-735, 2022 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36189752
15.
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
J Inherit Metab Dis
; 40(3): 423-431, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28205048
16.
Response to Biesecker et al.
Genet Med
; 23(4): 793-794, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33420347
17.
Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.
Metab Brain Dis
; 31(3): 587-92, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26686503
18.
Urinary excretion of polyols and sugars in children with chronic kidney disease.
Pediatr Nephrol
; 30(9): 1537-40, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26054712
19.
Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
J Am Soc Nephrol
; 25(3): 574-86, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24204001
20.
New generation lipid emulsions prevent PNALD in chronic parenterally fed preterm pigs.
J Lipid Res
; 55(3): 466-77, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24478031