Found: 23
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L-2-hydroxyglutaric Aciduria in Two Female Yorkshire Terriers.
- Published in:
- 2012
- By:
- Publication type:
- Case Study
Entre la complacencia sanitaria y el trastorno facticio por poderes.
- Published in:
- 2016
- By:
- Publication type:
- Letter to the Editor
Undetectable Levels of CSF Amyloid-β Peptide in a Patient with 17β-Hydroxysteroid Dehydrogenase Deficiency.
- Published in:
- Journal of Alzheimer's Disease, 2011, v. 27, n. 2, p. 253, doi. 10.3233/JAD-2011-110647
- By:
- Publication type:
- 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
Analysis of cerebrospinal fluid γ-aminobutyric acid by capillary electrophoresis with laser-induced fluorescence detection.
- Published in:
- Electrophoresis, 2014, v. 35, n. 8, p. 1181, doi. 10.1002/elps.201300261
- By:
- Publication type:
- Article
ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency.
- Published in:
- Journal of Clinical Medicine, 2019, v. 8, n. 9, p. 1374, doi. 10.3390/jcm8091374
- By:
- Publication type:
- 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
A capillary electrophoresis procedure for the screening of oligosaccharidoses and related diseases.
- Published in:
- Analytical & Bioanalytical Chemistry, 2014, v. 406, n. 18, p. 4337, doi. 10.1007/s00216-014-7832-6
- By:
- Publication type:
- Article
Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Inborn error metabolic screening in individuals with nonsyndromic autism spectrum disorders.
- Published in:
- 2016
- By:
- Publication type:
- journal 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
- By:
- Publication type:
- Article
A targeted metabolomic procedure for amino acid analysis in different biological specimens by ultra-high-performance liquid chromatography-tandem mass spectrometry.
- Published in:
- Metabolomics, 2018, v. 14, n. 6, p. 1, doi. 10.1007/s11306-018-1374-4
- By:
- Publication type:
- Article
Selenium Concentration in Cerebrospinal Fluid Samples from a Paediatric Population.
- Published in:
- 2010
- By:
- Publication type:
- Report
Disrupted Mitochondrial and Metabolic Plasticity Underlie Comorbidity between Age-Related and Degenerative Disorders as Parkinson Disease and Type 2 Diabetes Mellitus.
- Published in:
- Antioxidants, 2020, v. 9, n. 11, p. 1063, doi. 10.3390/antiox9111063
- By:
- Publication type:
- Article
Correction: Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).
- Published in:
- 2016
- By:
- Publication type:
- Correction Notice
Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG).
- Published in:
- PLoS ONE, 2016, v. 11, n. 7, p. 1, doi. 10.1371/journal.pone.0158863
- By:
- Publication type:
- Article
PREDICCIÓN DE DETERIORO COGNITIVO EN ESQUIZOFRENIA: RETROSPECTIVA DE 31 AÑOS.
- Published in:
- Behavioral Psychology / Psicologia Conductual, 2018, v. 26, n. 1, p. 141
- By:
- Publication type:
- Article
Unravelling inclusion body myositis using a patient‐derived fibroblast model.
- Published in:
- Journal of Cachexia, Sarcopenia & Muscle, 2023, v. 14, n. 2, p. 964, doi. 10.1002/jcsm.13178
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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
- By:
- Publication type:
- Article
Conformational and thermodynamic properties of peptide binding to the human S100P protein.
- Published in:
- Protein Science: A Publication of the Protein Society, 2002, v. 11, n. 6, p. 1367, doi. 10.1110/ps.0202202
- By:
- Publication type:
- Article
Longitudinal Study of Cognitive Variables in Women with Schizophrenia: 31-Year Follow-Up Study.
- Published in:
- Spanish Journal of Psychology, 2015, v. 18, p. 1, doi. 10.1017/sjp.2015.100
- By:
- Publication type:
- Article
Targeted ultra performance liquid chromatography tandem mass spectrometry procedures for the diagnosis of inborn errors of metabolism: validation through ERNDIM external quality assessment schemes.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2024, v. 62, n. 10, p. 1991, doi. 10.1515/cclm-2023-1291
- By:
- Publication type:
- Article