Found: 19
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Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Effect of blood contamination of cerebrospinal fluid on amino acids, biogenic amines, pterins and vitamins.
- Published in:
- Fluids & Barriers of the CNS, 2019, v. 16, n. 1, p. N.PAG, doi. 10.1186/s12987-019-0154-5
- By:
- Publication type:
- Article
Cerebrospinal Fluid Neopterin Analysis in Neuropediatric Patients: Establishment of a New Cut Off-Value for the Identification of Inflammatory-Immune Mediated Processes.
- Published in:
- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0083237
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- Publication type:
- Article
Homovanillic acid in cerebrospinal fluid of 1388 children with neurological disorders.
- Published in:
- Developmental Medicine & Child Neurology, 2013, v. 55, n. 6, p. 559, doi. 10.1111/dmcn.12116
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- Publication type:
- Article
Improvement of the Rett Syndrome Phenotype in a Mecp2 Mouse Model Upon Treatment with Levodopa and a Dopa-Decarboxylase Inhibitor.
- Published in:
- Neuropsychopharmacology, 2014, v. 39, n. 12, p. 2846, doi. 10.1038/npp.2014.136
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- Publication type:
- Article
Unveiling the value of C‐reactive protein as a severity biomarker and the IL4/IL13 pathway as a therapeutic target in recessive dystrophic epidermolysis bullosa: A multiparametric cross‐sectional study.
- Published in:
- Experimental Dermatology, 2024, v. 33, n. 8, p. 1, doi. 10.1111/exd.15146
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- Publication type:
- Article
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1147, doi. 10.1007/s10545-018-0224-x
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- Publication type:
- Article
Cerebrospinal fluid monoamines, pterins, and folate in patients with mitochondrial diseases: systematic review and hospital experience.
- Published in:
- Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1147, doi. 10.1007/s10545-018-0224-x
- By:
- Publication type:
- Article
Cerebrospinal fluid neopterin as a biomarker of neuroinflammatory diseases.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-75500-z
- By:
- Publication type:
- Article
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity.
- Published in:
- Movement Disorders, 2021, v. 36, n. 3, p. 690, doi. 10.1002/mds.28362
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- Publication type:
- Article
Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.
- Published in:
- Nature Protocols, 2017, v. 12, n. 11, p. 2359, doi. 10.1038/nprot.2017.103
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- Publication type:
- Article
Cytokines and Pancreatic Ductal Adenocarcinoma: Exploring Their Relationship with Molecular Subtypes and Prognosis.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 17, p. 9368, doi. 10.3390/ijms25179368
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- Publication type:
- Article
Adjusted versus Targeted Fortification in Extremely Low Birth Weight Preterm Infants: Fortin Study—A Randomized Clinical Trial.
- Published in:
- Nutrients, 2024, v. 16, n. 17, p. 2904, doi. 10.3390/nu16172904
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- Publication type:
- Article
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.
- Published in:
- Nutrients, 2024, v. 16, n. 5, p. 684, doi. 10.3390/nu16050684
- By:
- Publication type:
- Article
The Gluten-Free Diet for Celiac Disease: Critical Insights to Better Understand Clinical Outcomes.
- Published in:
- Nutrients, 2023, v. 15, n. 18, p. 4013, doi. 10.3390/nu15184013
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- Publication type:
- Article