Intellectual Disability Associated With Pyridoxine-Responsive Epilepsies: The Need to Protect Cognitive Development
出版年份 2019 全文链接
标题
Intellectual Disability Associated With Pyridoxine-Responsive Epilepsies: The Need to Protect Cognitive Development
作者
关键词
-
出版物
Frontiers in Psychiatry
Volume 10, Issue -, Pages -
出版商
Frontiers Media SA
发表日期
2019-03-08
DOI
10.3389/fpsyt.2019.00116
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- AGE-RAGE axis blockade in diabetic nephropathy: Current status and future directions
- (2018) Davoud Sanajou et al. EUROPEAN JOURNAL OF PHARMACOLOGY
- Advanced glycation end products in the pathogenesis of chronic kidney disease
- (2018) Naila Rabbani et al. KIDNEY INTERNATIONAL
- Chronic hyperglycemia mediated physiological alteration and metabolic distortion leads to organ dysfunction, infection, cancer progression and other pathophysiological consequences: An update on glucose toxicity
- (2018) Biplab Giri et al. BIOMEDICINE & PHARMACOTHERAPY
- Amyloid-β Metabolite Sensing: Biochemical Linking of Glycation Modification and Misfolding
- (2018) Janelle N. Fawver et al. JOURNAL OF ALZHEIMERS DISEASE
- Alcohol and endogenous aldehydes damage chromosomes and mutate stem cells
- (2018) Juan I. Garaycoechea et al. NATURE
- Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation
- (2017) Martino L. di Salvo et al. MOLECULAR GENETICS AND METABOLISM
- Cyst Fluid From Cystic, Malignant Brain Tumors: A Reservoir of Nutrients, Including Growth Factor-Like Nutrients, for Tumor Cells
- (2017) Daniel Dahlberg et al. NEUROSURGERY
- Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology
- (2017) Nikita Zabinyakov et al. PLoS One
- Involvement of Toxic AGEs (TAGE) in the Pathogenesis of Diabetic Vascular Complications and Alzheimer's Disease
- (2017) Masayoshi Takeuchi et al. JOURNAL OF ALZHEIMERS DISEASE
- Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B 6 -Dependent Epilepsy
- (2016) Niklas Darin et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Metformin Scavenges Methylglyoxal To Form a Novel Imidazolinone Metabolite in Humans
- (2016) Owen R. Kinsky et al. CHEMICAL RESEARCH IN TOXICOLOGY
- Safety and Effectiveness of Arginine in Adults
- (2016) Catherine J McNeal et al. JOURNAL OF NUTRITION
- Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum
- (2016) Clara D.M. van Karnebeek et al. PEDIATRIC NEUROLOGY
- Receptor for advanced glycation endproduct modulators: a new therapeutic target in Alzheimer’s disease
- (2015) Douglas Walker et al. EXPERT OPINION ON INVESTIGATIONAL DRUGS
- Uptake and metabolism of fructose by rat neocortical cellsin vivoand by isolated nerve terminalsin vitro
- (2015) Bjørnar Hassel et al. JOURNAL OF NEUROCHEMISTRY
- Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome
- (2015) Curtis R. Coughlin et al. MOLECULAR GENETICS AND METABOLISM
- Glyceraldehyde caused Alzheimer’s disease-like alterations in diagnostic marker levels in SH-SY5Y human neuroblastoma cells
- (2015) Yoshiki Koriyama et al. Scientific Reports
- Methylglyoxal, the dark side of glycolysis
- (2015) Igor Allaman et al. Frontiers in Neuroscience
- Intellectual developmental disorders: towards a new name, definition and framework for “mental retardation/intellectual disability” in ICD-11
- (2015) LUIS SALVADOR CARULLA et al. World Psychiatry
- Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome
- (2014) P. B. Mills et al. BRAIN
- Gliotoxin-induced swelling of astrocytes hinders diffusion in brain extracellular space via formation of dead-space microdomains
- (2014) Ang Doma Sherpa et al. GLIA
- Effects of Combined Lipoic Acid and Pyridoxine on Albuminuria, Advanced Glycation End-Products, and Blood Pressure in Diabetic Nephropathy
- (2014) Nazanin Noori et al. INTERNATIONAL JOURNAL FOR VITAMIN AND NUTRITION RESEARCH
- Kinetics of Glycoxidation of Bovine Serum Albumin by Glucose, Fructose and Ribose and Its Prevention by Food Components
- (2014) Izabela Sadowska-Bartosz et al. MOLECULES
- Pyridoxine-induced sensory ataxic neuronopathy and neuropathy: revisited
- (2014) Kongkiat Kulkantrakorn NEUROLOGICAL SCIENCES
- Advanced Glycation End Products (AGE) and Diabetes: Cause, Effect, or Both?
- (2013) Helen Vlassara et al. Current Diabetes Reports
- Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia
- (2013) Steffi van de Ven et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Vitamin B6-responsive epilepsy due to inherited GPI deficiency
- (2013) I. Kuki et al. NEUROLOGY
- Clinical Features of Schizophrenia With Enhanced Carbonyl Stress
- (2013) Mitsuhiro Miyashita et al. SCHIZOPHRENIA BULLETIN
- The measurement of urinary Δ1-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency
- (2012) Eduard A. Struys et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency
- (2012) Philippa B. Mills et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia
- (2012) Michael P. Whyte et al. NEW ENGLAND JOURNAL OF MEDICINE
- Pyridoxine-dependent Epilepsy With Elevated Urinary -Amino Adipic Semialdehyde in Molybdenum Cofactor Deficiency
- (2012) E. A. Struys et al. PEDIATRICS
- Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: Expanded clinical spectrum
- (2011) Denise Horn et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Pyridoxal 5'-phosphate in cerebrospinal fluid; factors affecting concentration
- (2011) Emma J. Footitt et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Pyridoxine dependent epilepsy and antiquitin deficiency
- (2011) Sylvia Stockler et al. MOLECULAR GENETICS AND METABOLISM
- Effect of Micronutrients on Methylglyoxal-Mediated In Vitro Glycation of Albumin
- (2010) Kirtan V. Tarwadi et al. BIOLOGICAL TRACE ELEMENT RESEARCH
- Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome
- (2010) Peter M Krawitz et al. NATURE GENETICS
- Analysis of Protein Oxidation Markers α-Aminoadipic and γ-Glutamic Semialdehydes in Food Proteins Using Liquid Chromatography (LC)−Electrospray Ionization (ESI)−Multistage Tandem Mass Spectrometry (MS)
- (2009) Mario Estévez et al. JOURNAL OF AGRICULTURAL AND FOOD CHEMISTRY
- Advanced glycation endproducts and their receptor RAGE in Alzheimer's disease
- (2009) Velandai Srikanth et al. NEUROBIOLOGY OF AGING
- Pyridoxal 5′-phosphate values in cerebrospinal fluid: Reference values and diagnosis of PNPO deficiency in paediatric patients
- (2008) Aida Ormazabal et al. MOLECULAR GENETICS AND METABOLISM
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