Detalhe da pesquisa
1.
State-of-the-art 2023 on gene therapy for phenylketonuria.
J Inherit Metab Dis
; 47(1): 80-92, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37401651
2.
Mouse models for inherited monoamine neurotransmitter disorders.
J Inherit Metab Dis
; 47(3): 533-550, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38168036
3.
A phenylalanine-free recombinant nutritional protein for the dietary management of phenylketonuria.
J Inherit Metab Dis
; 2024 Feb 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38390655
4.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32668217
5.
Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Mol Genet Metab
; 139(3): 107624, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37348148
6.
Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit.
J Inherit Metab Dis
; 46(1): 66-75, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36088537
7.
Modeling the cognitive effects of diet discontinuation in adults with phenylketonuria (PKU) using pegvaliase therapy in PAH-deficient mice.
Mol Genet Metab
; 136(1): 46-64, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35339387
8.
Biochemical and behavioural profile of NTBC treated Tyrosinemie type 1 mice.
Mol Genet Metab
; 137(1-2): 9-17, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35868243
9.
Correction of a urea cycle defect after ex vivo gene editing of human hepatocytes.
Mol Ther
; 29(5): 1903-1917, 2021 05 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33484963
10.
Molecular and metabolic bases of tetrahydrobiopterin (BH4) deficiencies.
Mol Genet Metab
; 133(2): 123-136, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33903016
11.
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
Mov Disord
; 36(3): 690-703, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33152132
12.
Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia.
Proc Natl Acad Sci U S A
; 115(2): 391-396, 2018 01 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29279371
13.
Development of Covalent Chitosan-Polyethylenimine Derivatives as Gene Delivery Vehicle: Synthesis, Characterization, and Evaluation.
Int J Mol Sci
; 22(8)2021 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33917124
14.
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability.
Am J Hum Genet
; 100(2): 257-266, 2017 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28132689
15.
A novel Pah-exon1 deleted murine model of phenylalanine hydroxylase (PAH) deficiency.
Mol Genet Metab
; 131(3): 306-315, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33051130
16.
Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12.
Hum Mutat
; 40(4): 483-494, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30667134
17.
In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.
Hum Mutat
; 40(2): 230-240, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30408270
18.
Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.
Mol Genet Metab
; 127(1): 12-22, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30952622
19.
Analysis of the Qatari R336C cystathionine ß-synthase protein in mice.
J Inherit Metab Dis
; 42(5): 831-838, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31240737
20.
Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification.
J Inherit Metab Dis
; 42(6): 1064-1076, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30714172