Detalhe da pesquisa
1.
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.
Hum Mol Genet
; 28(1): 96-104, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30239721
2.
Longitudinal Analysis of Ocular Disease in Children with Mucopolysaccharidosis I after Hematopoietic Cell Transplantation.
Biol Blood Marrow Transplant
; 26(5): 928-935, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31786241
3.
Untargeted Metabolomics for Metabolic Diagnostic Screening with Automated Data Interpretation Using a Knowledge-Based Algorithm.
Int J Mol Sci
; 21(3)2020 Feb 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32024143
4.
Direct-infusion based metabolomics unveils biochemical profiles of inborn errors of metabolism in cerebrospinal fluid.
Mol Genet Metab
; 127(1): 51-57, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30926434
5.
Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation.
Mol Genet Metab
; 127(4): 368-372, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31311714
6.
Farnesoid X Receptor Activation Promotes Hepatic Amino Acid Catabolism and Ammonium Clearance in Mice.
Gastroenterology
; 152(6): 1462-1476.e10, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28130067
7.
Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry.
J Inherit Metab Dis
; 39(5): 651-660, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27099181
8.
Key features and clinical variability of COG6-CDG.
Mol Genet Metab
; 116(3): 163-70, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26260076
9.
Impaired cognitive functioning in patients with tyrosinemia type I receiving nitisinone.
J Pediatr
; 164(2): 398-401, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24238861
10.
A second case of glutaminase hyperactivity: Expanding the phenotype with epilepsy.
JIMD Rep
; 64(3): 217-222, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37151363
11.
A one-year pilot study comparing direct-infusion high resolution mass spectrometry based untargeted metabolomics to targeted diagnostic screening for inherited metabolic diseases.
Front Mol Biosci
; 10: 1283083, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38028537
12.
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation.
JIMD Rep
; 58(1): 70-79, 2021 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-33728249
13.
Expanding the clinical phenotype of COG6 deficiency.
J Med Genet
; 51(6): 425, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24667119
14.
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio.
Mol Genet Metab Rep
; 22: 100551, 2020 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31908951
15.
Cross-Omics: Integrating Genomics with Metabolomics in Clinical Diagnostics.
Metabolites
; 10(5)2020 May 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32443577
16.
Direct Infusion Based Metabolomics Identifies Metabolic Disease in Patients' Dried Blood Spots and Plasma.
Metabolites
; 9(1)2019 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30641898
17.
Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.
JAMA Neurol
; 76(3): 342-350, 2019 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30575854
18.
Beneficial Effect of BH4 Treatment in a 15-Year-Old Boy with Biallelic Mutations in DNAJC12.
JIMD Rep
; 42: 99-103, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29380259
19.
Quantification of metabolites in dried blood spots by direct infusion high resolution mass spectrometry.
Anal Chim Acta
; 979: 45-50, 2017 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28599708
20.
A New Approach for Fast Metabolic Diagnostics in CMAMMA.
JIMD Rep
; 30: 15-22, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26915364