Detalhe da pesquisa
1.
A multiomics approach reveals evidence for phenylbutyrate as a potential treatment for combined D,L-2- hydroxyglutaric aciduria.
Mol Genet Metab;
142(3): 108495, 2024 May 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38772223
2.
Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients.
Mol Genet Metab;
142(1): 108464, 2024 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38537426
3.
Epithelial-like transport of mineral distinguishes bone formation from other connective tissues.
J Cell Biochem;
124(12): 1889-1899, 2023 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37991446
4.
Acquired deficiency of peroxisomal dicarboxylic acid catabolism is a metabolic vulnerability in hepatoblastoma.
J Biol Chem;
296: 100283, 2021.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33450224
5.
Phenylketonuria oxidative stress and energy dysregulation: Emerging pathophysiological elements provide interventional opportunity.
Mol Genet Metab;
136(2): 111-117, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35379539
6.
Comparative metabolomics in the Pahenu2 classical PKU mouse identifies cerebral energy pathway disruption and oxidative stress.
Mol Genet Metab;
136(1): 38-45, 2022 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35367142
7.
Growth and mineralization of osteoblasts from mesenchymal stem cells on microporous membranes: Epithelial-like growth with transmembrane resistance and pH gradient.
Biochem Biophys Res Commun;
580: 14-19, 2021 11 26.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34607258
8.
Mesenchymal stem cell energy deficit and oxidative stress contribute to osteopenia in the Pahenu2 classical PKU mouse.
Mol Genet Metab;
132(3): 173-179, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33602601
9.
Phenylalanine hydroxylase deficient phenylketonuria comparative metabolomics identifies energy pathway disruption and oxidative stress.
Mol Genet Metab;
2021 Apr 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33846068
10.
Correction: The high-density lipoprotein receptor Scarb1 is required for normal bone differentiation in vivo and in vitro.
Lab Invest;
100(5): 790, 2020 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31942004
11.
Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case.
Mol Genet Metab;
129(4): 272-277, 2020 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32151545
12.
The high-density lipoprotein receptor Scarb1 is required for normal bone differentiation in vivo and in vitro.
Lab Invest;
99(12): 1850-1860, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31467425
13.
Phenylalanine hydroxylase genotype-phenotype associations in the United States: A single center study.
Mol Genet Metab;
128(4): 415-421, 2019 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31623983
14.
Complex patterns of inheritance, including synergistic heterozygosity, in inborn errors of metabolism: Implications for precision medicine driven diagnosis and treatment.
Mol Genet Metab;
128(1-2): 1-9, 2019.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31358473
15.
The Splicing Efficiency of Activating HRAS Mutations Can Determine Costello Syndrome Phenotype and Frequency in Cancer.
PLoS Genet;
12(5): e1006039, 2016 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27195699
16.
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Hum Mutat;
39(11): 1569-1580, 2018 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30311390
17.
Congenital Disorder of Glycosylation in a Child with Macrosomia.
Clin Chem;
69(12): 1432-1434, 2023 12 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38037438
18.
A bone mineralization defect in the Pahenu2 model of classical phenylketonuria involves compromised mesenchymal stem cell differentiation.
Mol Genet Metab;
125(3): 193-199, 2018 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30201326
19.
Host conditioning and rejection monitoring in hepatocyte transplantation in humans.
J Hepatol;
66(5): 987-1000, 2017 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28027971
20.
An Infant with a Constellation of Biochemical Abnormalities.
Clin Chem;
67(7): 1035-1036, 2021 07 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34229345