Detalhe da pesquisa
1.
MT-ATP6 mitochondrial disease identified by newborn screening reveals a distinct biochemical phenotype.
Am J Med Genet A
; 191(6): 1492-1501, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36883293
2.
Validation of a targeted metabolomics panel for improved second-tier newborn screening.
J Inherit Metab Dis
; 46(2): 194-205, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36680545
3.
A gut bacterial pathway metabolizes aromatic amino acids into nine circulating metabolites.
Nature
; 551(7682): 648-652, 2017 11 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-29168502
4.
A conserved role for AMP-activated protein kinase in NGLY1 deficiency.
PLoS Genet
; 16(12): e1009258, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33315951
5.
Metabolic diversity in human populations and correlation with genetic and ancestral geographic distances.
Mol Genet Metab
; 137(3): 292-300, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36252453
6.
Detecting lysosomal storage disorders by glycomic profiling using liquid chromatography mass spectrometry.
Mol Genet Metab
; 134(1-2): 43-52, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34474962
7.
Ethnic variability in newborn metabolic screening markers associated with false-positive outcomes.
J Inherit Metab Dis
; 43(5): 934-943, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32216101
8.
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia.
Genet Med
; 21(4): 896-903, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30209273
9.
Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns.
Mol Genet Metab
; 126(1): 39-42, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30448007
10.
Biomarkers of oxidative stress, inflammation, and vascular dysfunction in inherited cystathionine ß-synthase deficient homocystinuria and the impact of taurine treatment in a phase 1/2 human clinical trial.
J Inherit Metab Dis
; 42(3): 424-437, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30873612
11.
ERRATUM: Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Genet Med
; 20(2): 282, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29240078
12.
CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance.
Genet Med
; 20(1): 83-90, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28661487
13.
Prenatal treatment of ornithine transcarbamylase deficiency.
Mol Genet Metab
; 123(3): 297-300, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29396029
14.
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Genet Med
; 19(10)2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28682309
15.
Correction of hyperleucinemia in MSUD patients on leucine-free dietary therapy.
Mol Genet Metab
; 122(4): 156-159, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29032949
16.
Acylcarnitine Profiles Reflect Metabolic Vulnerability for Necrotizing Enterocolitis in Newborns Born Premature.
J Pediatr
; 181: 80-85.e1, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27836286
17.
Expanding the phenotype of hawkinsinuria: new insights from response to N-acetyl-L-cysteine.
J Inherit Metab Dis
; 39(6): 821-829, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27488560
18.
Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation.
J Pediatr
; 166(6): 1455-61.e1, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25771389
19.
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
Genet Med
; 16(10): 751-8, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24651605
20.
Liver transplantation for urea cycle disorders in pediatric patients: a single-center experience.
Pediatr Transplant
; 17(2): 158-67, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23347504