Detalhe da pesquisa
1.
SETD3 is an actin histidine methyltransferase that prevents primary dystocia.
Nature;
565(7739): 372-376, 2019 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30626964
2.
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
3.
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
4.
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
5.
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
6.
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
7.
Variable clinical severity in TANGO2 deficiency: Case series and literature review.
Am J Med Genet A;
188(2): 473-487, 2022 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34668327
8.
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Am J Hum Genet;
102(3): 494-504, 2018 03 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29478781
9.
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
10.
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
11.
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
12.
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
13.
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
14.
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
15.
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
16.
Prenatal treatment of ornithine transcarbamylase deficiency.
Mol Genet Metab;
123(3): 297-300, 2018 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29396029
17.
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
18.
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
19.
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
20.
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