Title: Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - A decade of experience.
Journal: Molecular genetics and metabolism20120901
Title: Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
Journal: Molecular genetics and metabolism20120801
Title: Bioconversion of ethyl (R)-4-cyano-3-hydroxybutyate into (R)-ethyl-3-hydroxyglutarate via an indirect pathway by Rhodococcus boritolerans.
Journal: Biotechnology letters20120501
Title: Apparent diffusion coefficient restriction in the white matter: going beyond acute brain territorial ischemia.
Journal: Insights into imaging20120401
Title: [Secondary organic tracers in summer PM2.5 aerosols from Baima Spring Scenic Area, Yaan, Sichuan Province].
Journal: Huan jing ke xue= Huanjing kexue20120401
Title: Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.
Journal: Human genetics20120301
Title: Glutaric aciduria type I: A treatable neurometabolic disorder.
Journal: Annals of Indian Academy of Neurology20120101
Title: The use of next-generation sequencing in movement disorders.
Journal: Frontiers in genetics20120101
Title: The unsolved puzzle of neuropathogenesis in glutaric aciduria type I.
Journal: Molecular genetics and metabolism20111201
Title: Diagnosis and management of glutaric aciduria type I--revised recommendations.
Journal: Journal of inherited metabolic disease20110601
Title: Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells.
Journal: The Journal of biological chemistry20110520
Title: The sodium-dependent di- and tricarboxylate transporter, NaCT, is not responsible for the uptake of D-, L-2-hydroxyglutarate and 3-hydroxyglutarate into neurons.
Journal: Journal of inherited metabolic disease20110401
Title: Genome-wide homozygosity analysis reveals HADH mutations as a common cause of diazoxide-responsive hyperinsulinemic-hypoglycemia in consanguineous pedigrees.
Journal: The Journal of clinical endocrinology and metabolism20110301
Title: Diagnosis of glutaric aciduria type 1 by measuring 3-hydroxyglutaric acid in dried urine spots by liquid chromatography tandem mass spectrometry.
Journal: Journal of inherited metabolic disease20110201
Title: Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I.
Journal: Brain : a journal of neurology20110101
Title: Etiological analysis of neurodevelopmental disabilities: single-center eight-year clinical experience in south China.
Journal: Journal of biomedicine & biotechnology20110101
Title: Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx.
Journal: Molecular genetics and metabolism20110101
Title: Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria.
Journal: Clinica chimica acta; international journal of clinical chemistry20101214
Title: Induction of S100B secretion in C6 astroglial cells by the major metabolites accumulating in glutaric acidemia type I.
Journal: Metabolic brain disease20100601
Title: Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations.
Journal: European journal of endocrinology20100501
Title: Human multipotent stromal cells (MSCs) increase neurogenesis and decrease atrophy of the striatum in a transgenic mouse model for Huntington's disease.
Journal: PloS one20100101
Title: Role of carnitine in disease.
Journal: Nutrition & metabolism20100101
Title: Glutaric aciduria type 1 in South Africa-high incidence of glutaryl-CoA dehydrogenase deficiency in black South Africans.
Journal: Molecular genetics and metabolism20100101
Title: Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society20091101
Title: Enzymatic evaluation of glutaric acidemia type 1 by an in vitro probe assay of acylcarnitine profiling using fibroblasts and electrospray ionization/tandem mass spectrometry (MS/MS).
Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences20090901
Title: Characterization of atmospheric aerosols at a forested site in central Europe.
Journal: Environmental science & technology20090701
Title: Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).
Journal: Human molecular genetics20081215
Title: Astrocytic proliferation and mitochondrial dysfunction induced by accumulated glutaric acidemia I (GAI) metabolites: possible implications for GAI pathogenesis.
Journal: Neurobiology of disease20081201
Title: Genetic mapping of glutaric aciduria, type 3, to chromosome 7 and identification of mutations in c7orf10.
Journal: American journal of human genetics20081117
Title: Polar organic marker compounds in PM2.5 aerosol from a mixed forest site in western Germany.
Journal: Chemosphere20081101
Title: Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric acidurias.
Journal: Pflugers Archiv : European journal of physiology20081001
Title: [Importance of early diagnosis and treatment in the prognosis of type I Glutaric Acidaemia].
Journal: Anales de pediatria (Barcelona, Spain : 2003)20080901
Title: Transport and distribution of 3-hydroxyglutaric acid before and during induced encephalopathic crises in a mouse model of glutaric aciduria type 1.
Journal: Biochimica et biophysica acta20080601
Title: Membrane translocation of glutaric acid and its derivatives.
Journal: Journal of inherited metabolic disease20080401
Title: Chronic early postnatal glutaric acid administration causes cognitive deficits in the water maze.
Journal: Behavioural brain research20080305
Title: Characterization of organosulfates from the photooxidation of isoprene and unsaturated fatty acids in ambient aerosol using liquid chromatography/(-) electrospray ionization mass spectrometry.
Journal: Journal of mass spectrometry : JMS20080301
Title: Determination of isoprene and alpha-/beta-pinene oxidation products in boreal forest aerosols from Hyytiälä, Finland: diel variations and possible link with particle formation events.
Journal: Plant biology (Stuttgart, Germany)20080101
Title: Citrobacter freundii infection in glutaric aciduria type 1: adding insult to injury.
Journal: Journal of postgraduate medicine20080101
Title: Evidence that glutaric acid reduces glutamate uptake by cerebral cortex of infant rats.
Journal: Life sciences20071214
Title: Evidence for a synergistic action of glutaric and 3-hydroxyglutaric acids disturbing rat brain energy metabolism.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience20071001
Title: Biochemistry and bioenergetics of glutaryl-CoA dehydrogenase deficiency.
Journal: Journal of inherited metabolic disease20071001
Title: Age and brain structural related effects of glutaric and 3-hydroxyglutaric acids on glutamate binding to plasma membranes during rat brain development.
Journal: Cellular and molecular neurobiology20070901
Title: 3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3.
Journal: Journal of molecular medicine (Berlin, Germany)20070701
Title: Induction of oxidative stress by chronic and acute glutaric acid administration to rats.
Journal: Cellular and molecular neurobiology20070601
Title: Magnetic resonance imaging findings of adult-onset glutaric aciduria type I.
Journal: Acta radiologica (Stockholm, Sweden : 1987)20070601
Title: Hydroxydicarboxylic acids: markers for secondary organic aerosol from the photooxidation of alpha-pinene.
Journal: Environmental science & technology20070301
Title: Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
Journal: Journal of inherited metabolic disease20070201
Title: The allosteric modulation of lipases and its possible biological relevance.
Journal: Theoretical biology & medical modelling20070101
Title: The aetiology of neurological complications of organic acidaemias--a role for the blood-brain barrier.
Journal: Journal of inherited metabolic disease20061201
Title: Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity.
Journal: Journal of inherited metabolic disease20061001
Title: Cloning, sequencing, and heterologous expression of an Erwinia cypripedii 314B lactonase specific for L-alpha-hydroxyglutaric acid gamma-lactone.
Journal: Applied microbiology and biotechnology20060801
Title: New insights for glutaric aciduria type I.
Journal: Brain : a journal of neurology20060801
Title: Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency.
Journal: Journal of neurochemistry20060501
Title: A diet-induced mouse model for glutaric aciduria type I.
Journal: Brain : a journal of neurology20060401
Title: Crystal structure of human 3-hydroxy-3-methylglutaryl-CoA Lyase: insights into catalysis and the molecular basis for hydroxymethylglutaric aciduria.
Journal: The Journal of biological chemistry20060317
Title: Endothelial effects of 3-hydroxyglutaric acid: implications for glutaric aciduria type I.
Journal: Pediatric research20060201
Title: Quinolinic acid reduces the antioxidant defenses in cerebral cortex of young rats.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience20051201
Title: Novel metabolic and molecular findings in hepatic carnitine palmitoyltransferase I deficiency.
Journal: Molecular genetics and metabolism20051101
Title: Quantification of glutaric and 3-hydroxyglutaric acids in urine of glutaric acidemia type I patients by HPLC with intramolecular excimer-forming fluorescence derivatization.
Journal: Clinica chimica acta; international journal of clinical chemistry20050901
Title: Stable-isotope dilution gas chromatography-mass spectrometric measurement of 3-hydroxyglutaric acid, glutaric acid and related metabolites in body fluids of patients with glutaric aciduria type 1 found in newborn screening.
Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences20050825
Title: Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A.
Journal: The Journal of biological chemistry20050610
Title: Glutaric acid and its metabolites cause apoptosis in immature oligodendrocytes: a novel mechanism of white matter degeneration in glutaryl-CoA dehydrogenase deficiency.
Journal: Pediatric research20050601
Title: [Macrocephaly the first manifestation of glutaric aciduria type I: the importance of early diagnosis].
Journal: Neurologia (Barcelona, Spain)20050601
Title: The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I.
Journal: Molecular genetics and metabolism20050201
Title: Promotion of oxidative stress by 3-hydroxyglutaric acid in rat striatum.
Journal: Journal of inherited metabolic disease20050101
Title: Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
Journal: Medical hypotheses20050101
Title: 3-Hydroxyglutaric acid moderately impairs energy metabolism in brain of young rats.
Journal: Neuroscience20050101
Title: Evidence that 3-hydroxyglutaric acid interacts with NMDA receptors in synaptic plasma membranes from cerebral cortex of young rats.
Journal: Neurochemistry international20041201
Title: 3-Hydroxyglutaric acid fails to affect the viability of primary neuronal rat cells.
Journal: Neurobiology of disease20040801
Title: On the neurotoxicity of glutaric, 3-hydroxyglutaric, and trans-glutaconic acids in glutaric acidemia type 1.
Journal: Journal of neuroscience research20040701
Title: Genetic and biochemical study in a patient with glutaric acidemia type I.
Journal: Journal of the Formosan Medical Association = Taiwan yi zhi20040701
Title: 3-hydroxyglutaric acid enhances glutamate uptake into astrocytes from cerebral cortex of young rats.
Journal: Neurochemistry international20040401
Title: Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
Journal: Diabetes20040101
Title: Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency.
Journal: Annals of neurology20040101
Title: Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency.
Journal: Journal of inherited metabolic disease20040101
Title: Animal models for glutaryl-CoA dehydrogenase deficiency.
Journal: Journal of inherited metabolic disease20040101
Title: Preliminary attempts to establish a rat model of striatal injury in glutaric acidaemia type I.
Journal: Journal of inherited metabolic disease20040101
Title: Modulation of glutamatergic and GABAergic neurotransmission in glutaryl-CoA dehydrogenase deficiency.
Journal: Journal of inherited metabolic disease20040101
Title: Glutaric aciduria type I and kynurenine pathway metabolites: a modified hypothesis.
Journal: Journal of inherited metabolic disease20040101
Title: Challenges for basic research in glutaryl-CoA dehydrogenase deficiency.
Journal: Journal of inherited metabolic disease20040101
Title: Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency.
Journal: Journal of inherited metabolic disease20040101
Title: Reduction of lysine intake while avoiding malnutrition--major goals and major problems in dietary treatment of glutaryl-CoA dehydrogenase deficiency.
Journal: Journal of inherited metabolic disease20040101
Title: Glutaric aciduria type 1 in a Kuwaiti infant.
Journal: Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit20040101
Title: Intraretinal hemorrhages and chronic subdural effusions: glutaric aciduria type 1 can be mistaken for shaken baby syndrome.
Journal: Retina (Philadelphia, Pa.)20031001
Title: Glutaryl-CoA dehydrogenase deficiency: region-specific analysis of organic acids and acylcarnitines in post mortem brain predicts vulnerability of the putamen.
Journal: Neuropediatrics20030601
Title: Glutaric aciduria I: creatine supplementation restores creatinephosphate levels in mixed cortex cells from rat incubated with 3-hydroxyglutarate.
Journal: Molecular genetics and metabolism20030201
Title: [Glutaric aciduria type 1: an example of the importance of early detection of so-called cerebral organic aciduria].
Journal: Lijecnicki vjesnik20030101
Title: 3-Hydroxyglutaric acid induces oxidative stress and decreases the antioxidant defenses in cerebral cortex of young rats.
Journal: Brain research20021129
Title: Quantification of 3-hydroxyglutaric acid in urine, plasma, cerebrospinal fluid and amniotic fluid by stable-isotope dilution negative chemical ionization gas chromatography-mass spectrometry.
Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences20021115
Title: White matter disease in cerebral organic acid disorders: clinical implications and suggested pathomechanisms.
Journal: Neuropediatrics20021001
Title: Ca(2+) and Na(+) dependence of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons.
Journal: Pediatric research20020801
Title: Chronic treatment with glutaric acid induces partial tolerance to excitotoxicity in neuronal cultures from chick embryo telencephalons.
Journal: Journal of neuroscience research20020515
Title: 3-Hydroxyglutarate excretion is increased in ketotic patients: implications for glutaryl-CoA dehydrogenase deficiency testing.
Journal: Journal of inherited metabolic disease20020501
Title: Outcome of the first 3-years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and northwestern Ontario, Canada.
Journal: Molecular genetics and metabolism20020101
Title: Biochemical and molecular diagnosis of glutaric aciduria type 1 in a black South African male child: case report.
Journal: East African medical journal20011201
Title: IGF-1 and bFGF reduce glutaric acid and 3-hydroxyglutaric acid toxicity in striatal cultures.
Journal: Journal of inherited metabolic disease20011101
Title: Intrastriatal administration of 3-hydroxyglutaric acid induces convulsions and striatal lesions in rats.
Journal: Brain research20011019
Title: [Glutaric aciduria type I: diagnosis in adulthood and phenotypic variability].
Journal: Neurologia (Barcelona, Spain)20011001
Title: Contribution of reactive oxygen species to 3-hydroxyglutarate neurotoxicity in primary neuronal cultures from chick embryo telencephalons.
Journal: Pediatric research20010701
Title: Potentiation of 3-hydroxyglutarate neurotoxicity following induction of astrocytic iNOS in neonatal rat hippocampal cultures.
Journal: The European journal of neuroscience20010601
Title: Maturation-dependent neurotoxicity of 3-hydroxyglutaric and glutaric acids in vitro: a new pathophysiologic approach to glutaryl-CoA dehydrogenase deficiency.
Journal: Pediatric research20000401
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