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Electroanalysis, ISSN 1040-0397, 07/2018, Volume 30, Issue 7, pp. 1505 - 1510
In this work, vertically aligned nickel nanowires‐based electrochemical sensors (v‐NiNWs) for rapid detection of branched‐chain amino acids for a non‐invasive... 
metallic nanowires | on-site amino acids detection | maple syrup urine disease | ELECTROCHEMISTRY | DIAGNOSIS | CHEMISTRY, ANALYTICAL | ELECTRODES | CAPILLARY-ELECTROPHORESIS | GALACTOSEMIA | COMPOSITE | Branched chain amino acids | Nickel | Electric properties
Journal Article
The Journal of Maternal-Fetal & Neonatal Medicine, ISSN 1476-7058, 06/2018, Volume 31, Issue 12, pp. 1663 - 1666
Maple syrup urine disease (MSUD) is an autosomal metabolic condition that can cause significant morbidity in pregnant women and their infants. Advances in... 
metabolic disease | Obstetrics | maple syrup urine disease | pregnancy | DIAGNOSIS | MANAGEMENT | WOMAN | OBSTETRICS & GYNECOLOGY
Journal Article
Archives of Disease in Childhood, ISSN 0003-9888, 05/2019, Volume 104, Issue Suppl 2, p. A106
AimsMSUD is an inherited metabolic condition, caused by BCKD (branched-chain ketoacid dehydrogenase) complex deficiency. Although rare, mimicry of presentation... 
Urine | Neonates | Demography | Maple syrup urine disease | Leucine | Metabolism | Medical screening | Mimicry | Neurological complications | Encephalopathy | Children | Diagnosis | Age
Journal Article
Molecular Neurobiology, ISSN 0893-7648, 9/2017, Volume 54, Issue 7, pp. 5709 - 5719
Maple syrup urine disease (MSUD) is an inherited disorder caused by deficient activity of the branched-chain α-keto acid dehydrogenase complex involved in the... 
Neurology | Neurosciences | Biomedicine | Neurodegeneration | Brain-derived neurotrophic factor (BDNF) | Neural cell adhesion molecule (NCAM) | Neurobiology | Maple syrup urine disease | Platelet-derived growth factor AA (PDGF-AA) | Cathepsin D | Cell Biology | BDNF MESSENGER-RNA | CELL-ADHESION MOLECULE | ALZHEIMERS-DISEASE | NEUROTROPHIC FACTOR | CHAIN AMINO-ACIDS | NEUROSCIENCES | NERVE GROWTH-FACTOR | NEURAL STEM-CELLS | Neural cell adhesionmolecule (NCAM) | L-CARNITINE SUPPLEMENTATION | Platelet-derived growth factorAA(PDGF-AA) | CathepsinD | CYTOCHROME-C RELEASE | CATHEPSIN-D | Biomarkers - metabolism | Humans | Oxidative Stress - physiology | Child, Preschool | Infant | Male | Platelet-Derived Growth Factor - metabolism | Plasminogen Activator Inhibitor 1 - metabolism | Cell Death | Maple Syrup Urine Disease - metabolism | Female | Brain-Derived Neurotrophic Factor - metabolism | Child | Medicine, Experimental | Medical research | Platelet-derived growth factor | Proteases | Branched chain amino acids | Medical genetics | Brain | Dehydrogenases | Disease | Chain branching | Amino acids | Chains | Syrup | Cell adhesion molecules | Cell adhesion & migration | Degradation | Proteins | Alterations | Cell adhesion | Urine | Neural cell adhesion molecule | Abnormalities | Markers | Polyamide-imides | Neurotrophic factors | Patients | Studies | Brain-derived neurotrophic factor | Diet | Maple syrup | Plasminogen activator inhibitors | Biomarkers
Journal Article
Circulation, ISSN 0009-7322, 04/2009, Volume 119, Issue 13, pp. 1736 - 1746
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 11/2017, Volume 40, Issue 6, pp. 783 - 792
Journal Article
Brain, ISSN 0006-8950, 4/2009, Volume 132, Issue 4, pp. 903 - 918
Journal Article