Detalhe da pesquisa
1.
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
2.
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.
Ann Neurol
; 82(3): 317-330, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28856750
3.
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
J Inherit Metab Dis
; 41(6): 1147-1158, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29974349
4.
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.
Dev Med Child Neurol
; 60(8): 780-792, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29577258
5.
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
Brain
; 139(Pt 1): 31-8, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26657515
6.
Trends in Faecal Zonulin Concentrations in Paediatric Patients with Celiac Disease at Baseline and on a Gluten-Free Diet: Exploring Correlations with Other Faecal Biomarkers.
Nutrients
; 16(5)2024 Feb 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38474812
7.
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
Dev Med Child Neurol
; 55(6): 559-66, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23480488
8.
The Gluten-Free Diet for Celiac Disease: Critical Insights to Better Understand Clinical Outcomes.
Nutrients
; 15(18)2023 Sep 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37764795
9.
Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases.
Sci Rep
; 10(1): 18291, 2020 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33106568
10.
Cerebrospinal Fluid Neopterin in Children With Enterovirus-Related Brainstem Encephalitis.
Pediatr Neurol
; 96: 70-73, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30935719
11.
Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins.
Fluids Barriers CNS
; 16(1): 34, 2019 Nov 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-31727079
12.
Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.
Nat Protoc
; 12(11): 2359-2375, 2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-29048424
13.
Urinary sulphatoxymelatonin as a biomarker of serotonin status in biogenic amine-deficient patients.
Sci Rep
; 7(1): 14675, 2017 11 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29116116
14.
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
Orphanet J Rare Dis
; 12(1): 12, 2017 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-28100251
15.
Pyridoxal Phosphate Supplementation in Neuropediatric Disorders.
Semin Pediatr Neurol
; 23(4): 351-358, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28284396
16.
Biochemical Analyses of Cerebrospinal Fluid for the Diagnosis of Neurometabolic Conditions. What Can We Expect?
Semin Pediatr Neurol
; 23(4): 273-284, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28284389
17.
Treatment of genetic defects of thiamine transport and metabolism.
Expert Rev Neurother
; 16(7): 755-63, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27191787
18.
Efficacy of the Ketogenic Diet for the Treatment of Refractory Childhood Epilepsy: Cerebrospinal Fluid Neurotransmitters and Amino Acid Levels.
Pediatr Neurol
; 53(5): 422-6, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26476148
19.
Can folic acid have a role in mitochondrial disorders?
Drug Discov Today
; 20(11): 1349-54, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26183769
20.
Clinical, etiological and therapeutic aspects of cerebral folate deficiency.
Expert Rev Neurother
; 15(7): 793-802, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26092490