Works matching DE "GLUTARIC aciduria"
Results: 42
Difficult Management of Glucose Homeostasis in a 21-Month-Old Child With Type 1 Diabetes and Unknown Glutaric Aciduria Type I: A Case Report.
- Published in:
- 2013
- By:
- Publication type:
- Letter
Clinical and laboratory analysis of late-onset glutaric aciduria type I (GA-I) in Uighur: A report of two cases.
- Published in:
- Experimental & Therapeutic Medicine, 2017, v. 13, n. 2, p. 560, doi. 10.3892/etm.2016.4007
- By:
- Publication type:
- Article
Metabolic Disturbances in Diseases with Neurological Involvement.
- Published in:
- Aging & Disease, 2014, v. 5, n. 4, p. 238, doi. 10.14336/AD.2014.0500238
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- Publication type:
- Article
Clinical features and course of glutaric aciduria-Report of six cases.
- Published in:
- 2015
- By:
- Publication type:
- Letter to the Editor
Clinical and Metabolic Profile of Glutaric Aciduria Type 1 from North India: Tertiary Centre Experience.
- Published in:
- Journal of Clinical & Diagnostic Research, 2017, v. 11, n. 11, p. 1, doi. 10.7860/JCDR/2017/30976.10834
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- Publication type:
- Article
Perioperative management of a patient with glutaric aciduria: A case report and literature review.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review.
- Published in:
- Forensic Science, Medicine & Pathology, 2015, v. 11, n. 3, p. 405, doi. 10.1007/s12024-015-9698-0
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- Publication type:
- Article
Glutaric Acidemia Type II Associated with Bipolar Affective Disorder.
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- German Journal of Psychiatry, 2011, v. 14, n. 1, p. 48
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- Publication type:
- Article
Increased oxidative stress in patients with 3-hydroxy-3-methylglutaric aciduria.
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- Molecular & Cellular Biochemistry, 2015, v. 402, n. 1/2, p. 149, doi. 10.1007/s11010-014-2322-x
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- Publication type:
- Article
Selective, Accurate, and Precise Quantitation of Glutarylcarnitine in Human Urine from a Patient with Glutaric Acidemia Type I.
- Published in:
- Journal of Applied Laboratory Medicine, 2017, p. 335, doi. 10.1373/jalm.2017.024281
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- Publication type:
- Article
A Mouse Model of L-2-Hydroxyglutaric Aciduria, a Disorder of Metabolite Repair.
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- PLoS ONE, 2015, v. 10, n. 3, p. 1, doi. 10.1371/journal.pone.0119540
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- Publication type:
- Article
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Management of pregnancy and childbirth in a patient with glutaric aciduria type II.
- Published in:
- Minerva Obstetrics & Gynecology, 2024, v. 76, n. 1, p. 102, doi. 10.23736/S2724-606X.22.05121-1
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- Publication type:
- Article
Severe Acute Subdural Hemorrhage in a Patient With Glutaric Aciduria Type I After Minor Head Trauma: A Case Report.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Glutaric Aciduria Type II Presenting as Myopathy and Rhabdomyolysis in a Teenager.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 1, p. 96, doi. 10.1177/0883073813516676
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- Publication type:
- Article
Anaesthesia Management of a Pregnant Woman with Glutaric Aciduria Type 1 Undergoing Cesarean Section.
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- Turkish Journal of Anaesthesiology & Reanimation, 2025, v. 53, n. 1, p. 28, doi. 10.4274/TJAR.2025.241705
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- Publication type:
- Article
Atypical Glutaric Aciduria Type I with Hemidystonia and Asymmetric Radiological Findings Misdiagnosed as an Ischemic Stroke.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl-CoA Dehydrogenase Deficiency ( GA1): Report of Two Cases.
- Published in:
- Movement Disorders Clinical Practice, 2016, v. 3, n. 3, p. 296, doi. 10.1002/mdc3.12278
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- Publication type:
- Article
L-2 Hydroxyglutaric Aciduria and Anaplastic Oligodendroglioma: a Rare Association.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-167
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- Publication type:
- Article
Analysis of plasma ghrelin in patients with medium-chain acyl-CoA dehydrogenase deficiency and glutaric aciduria type II.
- Published in:
- European Journal of Endocrinology, 2012, v. 166, n. 2, p. 235, doi. 10.1530/EJE-11-0785
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- Publication type:
- Article
Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II.
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- Lipids in Health & Disease, 2017, v. 16, p. 1, doi. 10.1186/s12944-017-0576-5
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- Publication type:
- Article
Microcephaly with generalized dystonia: Exception to the rule.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
The long-term treatment of a patient with type 1 diabetes mellitus and glutaric aciduria type 1: the effect of insulin.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Anesthetic management for fracture head of radius in a child with glutaric aciduria type-1.
- Published in:
- Anesthesia: Essays & Researches, 2018, v. 12, n. 2, p. 601, doi. 10.4103/aer.AER_34_18
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- Publication type:
- Article
Glutaric aciduria type 1 as a cause of dystonic cerebral palsy.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
An infant with glutaric aciduria type IIc diagnosed with a novel mutation.
- Published in:
- Turkish Journal of Pediatrics, 2017, v. 59, n. 3, p. 315, doi. 10.24953/turkjped.2017.03.013
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- Publication type:
- Article
L-2-Hydroxyglutaric Aciduria: Report of Four Turkish Patients from the Same Family.
- Published in:
- Journal of Neurological Sciences, 2016, v. 33, n. 3, p. 494
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- Publication type:
- Article
Excessive homozygosity identified by chromosomal microarray at a known GCDH mutation locus correlates with brain MRI abnormalities in an infant with glutaric aciduria.
- Published in:
- Clinical Case Reports, 2017, v. 5, n. 8, p. 1303, doi. 10.1002/ccr3.1054
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- Publication type:
- Article
Acquired Protein Energy Malnutrition in Glutaric Acidemia.
- Published in:
- Pediatric Dermatology, 2013, v. 30, n. 4, p. 502, doi. 10.1111/pde.12067
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- Publication type:
- Article
Interaction of Glutaric Aciduria Type 1-Related glutaryl-CoA Dehydrogenase with Mitochondrial Matrix Proteins.
- Published in:
- PLoS ONE, 2014, v. 9, n. 2, p. 1, doi. 10.1371/journal.pone.0087715
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- Publication type:
- Article
Effects of Targeted Suppression of Glutaryl-CoA Dehydrogenase by Lentivirus-Mediated shRNA and Excessive Intake of Lysine on Apoptosis in Rat Striatal Neurons
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063084
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- Publication type:
- Article
Ammonium Accumulation and Cell Death in a Rat 3D Brain Cell Model of Glutaric Aciduria Type I.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053735
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- Publication type:
- Article
Computational approach to unravel the impact of missense mutations of proteins (D2HGDH and IDH2) causing D-2-hydroxyglutaric aciduria 2.
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 5, p. 1699, doi. 10.1007/s11011-018-0278-3
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- Publication type:
- Article
Favourable outcome in a child with symptomatic diagnosis of Glutaric aciduria type 1 despite vertical HIV infection and minor head trauma.
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 2, p. 537, doi. 10.1007/s11011-018-0196-4
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- Publication type:
- Article
Genotype-phenotype correlation in 18 Egyptian patients with glutaric acidemia type I.
- Published in:
- Metabolic Brain Disease, 2017, v. 32, n. 5, p. 1417, doi. 10.1007/s11011-017-0006-4
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- Publication type:
- Article
Promising outcomes in glutaric aciduria type I patients detected by newborn screening.
- Published in:
- Metabolic Brain Disease, 2013, v. 28, n. 1, p. 61, doi. 10.1007/s11011-012-9349-z
- By:
- Publication type:
- Article
Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Impairment of GABAergic system contributes to epileptogenesis in glutaric acidemia type I.
- Published in:
- Epilepsia (Series 4), 2017, v. 58, n. 10, p. 1771, doi. 10.1111/epi.13862
- By:
- Publication type:
- Article