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1.
Evaluation of oxidative damage to biomolecules and inflammation in patients with urea cycle disorders.
Arch Biochem Biophys
; 736: 109526, 2023 03 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36702451
2.
Increased peripheral of brain-derived neurotrophic factor levels in phenylketonuric patients treated with l-carnitine.
Arch Biochem Biophys
; 749: 109792, 2023 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37863349
3.
Increased cytokine levels induced by high phenylalanine concentrations in late diagnosis PKU patients compared to early diagnosis: Anti-inflammatory effect of L-carnitine.
Cell Biochem Funct
; 41(4): 490-500, 2023 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-37170672
4.
Evaluation of oxidative stress and mitochondrial function in a type II mucopolysaccharidosis cellular model: in vitro effects of genistein and coenzyme Q10.
Metab Brain Dis
; 38(2): 519-529, 2023 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-36029429
5.
Hyperammonemia in Inherited Metabolic Diseases.
Cell Mol Neurobiol
; 42(8): 2593-2610, 2022 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-34665389
6.
L-carnitine protects DNA oxidative damage induced by phenylalanine and its keto acid derivatives in neural cells: a possible pathomechanism and adjuvant therapy for brain injury in phenylketonuria.
Metab Brain Dis
; 36(7): 1957-1968, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34216350
7.
COVID-19 impact on the diagnosis of Inborn Errors of Metabolism: Data from a reference center in Brazil.
Genet Mol Biol
; 45(1): e20210253, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-34927665
8.
Alterations of Plasmatic Biomarkers of Neurodegeneration in Mucopolysaccharidosis Type II Patients Under Enzyme Replacement Therapy.
Cell Biochem Biophys
; 81(3): 533-542, 2023 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-37470932
9.
Follow-up of pre-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1 and analysis of their lysosomal enzyme profiles in the CSF.
Orphanet J Rare Dis
; 18(1): 309, 2023 10 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-37784132
10.
Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy.
Int J Dev Neurosci
; 82(8): 772-788, 2022 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-36129623
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