Results 31 to 40 of about 17,667 (261)

Maturation-Dependent Neurotoxicity of 3-Hydroxyglutaric and Glutaric Acids In Vitro : A New Pathophysiologic Approach to Glutaryl-CoA Dehydrogenase Deficiency

Pediatric Research, 2000
S. Kölker, B. Ahlemeyer, J. Krieglstein, G. Hoffmann   +3 more
semanticscholar   +2 more sources

Clinical and Metabolic Profile of Glutaric Aciduria Type 1 from North India: Tertiary Centre Experience [PDF]

Journal of Clinical and Diagnostic Research, 2017
Introduction: Glutaric aciduria type 1 is caused by deficiency of glutaryl-CoA dehydogenase leading to accumulation of glutarylcarnitine in blood and excretion of glutaric acid, 3-hyroxyglutaric acid and glutaconic acid in urine.
Ankur Singh, Rajniti Prasad, Seema Kapoor, Om Prakash Mishra   +3 more
doaj   +1 more source

Microencephaly in macrocephaly: Rare report of two siblings with glutaric aciduria type 1

Annals of Movement Disorders, 2021
Glutaric aciduria type 1 is an autosomal recessive disorder caused by mutations in GCDH gene on chromosome 19 leading to the deficiency of glutaryl-CoA dehydrogenase which causes an abnormal metabolism of lysine, hydroxylysine and tryptophan with ...
Ayush Agarwal, Divyani Garg, Sangeeta Agarwal   +2 more
doaj   +1 more source

Targeted suppression of glutaryl-CoA dehydrogenase by lentivirus-mediated SHRNA and excessive intake of lysine induce the apoptosis of rat striatal neurons [PDF]

Int J Pediatr Endocrinol, 2013
Jinzhi G, Xi F, Cai Z, Hongjie G, Xiaoping L.   +4 more
europepmc   +3 more sources

Evaluation of the Clinical, Biochemical, Neurological, and Genetic Presentations of Glutaric Aciduria Type 1 in Patients From China

Frontiers in Genetics, 2021
PurposeTo characterize the phenotypic and genotypic variations associated with Glutaric aciduria type 1 (GA1) in Chinese patients.MethodsWe analyzed the clinical, neuroradiological, biochemical, and genetic information from 101 GA1 patients in mainland ...
Huishu E., Lili Liang, Huiwen Zhang, Wenjuan Qiu, Jun Ye, Feng Xu, Zhuwen Gong, Xuefan Gu, Lianshu Han   +8 more
doaj   +1 more source

Practical aspects of therapy for glutaric aciduria type 1

Нервно-мышечные болезни, 2021
Treatment of many of the diseases in the panel of expanded newborn screening includes dietary therapy. Glutaric aciduria type 1 (GA1) is a hereditary disorder caused by mutations in the gene GCDH, encoding glutaryl‑CoA dehydrogenase, an enzyme in the ...
E. Yu. Zakharova, S. V. Mikhailova, V. V. Zarubina, N. A. Krasnoshchekova, N. L. Pechatnikova, V. P. Vorontsova, D. I. Gribov, M. V. Zazivihina, А. N. Slatetskaya, M. V. Kurkina, P. V. Baranova, L. P. Nazarenko, S. А. Repina, L. R. Selimsyanova, N. D. Vashakmadse, T. V. Bushueva   +15 more
doaj   +1 more source

Electrochemical tuning of alcohol oxidase and dehydrogenase catalysis via biosensing towards butanol-1 detection in fermentation media [PDF]

Biosensors and Bioelectronics 170 (2020) 112702, 2021
A novel approach for electrochemical tuning of alcohol oxidase (AOx) and alcohol dehydrogenase (ADH) biocatalysis towards butanol-1 oxidation by incorporating enzymes in various designs of amperometric biosensors is presented. The biosensors were developed by using commercial graphene oxide-based screen-printed electrodes and varying enzyme producing ...
arxiv   +1 more source

The low excretor phenotype of glutaric acidemia type I is a source of false negative newborn screening results and challenging diagnoses

JIMD Reports, 2021
Background Glutaric acidemia type I (GA1) is an organic acidemia that is often unrecognized in the newborn period until patients suffer an acute encephalopathic crisis, which can be mistaken for nonaccidental trauma.
Adam J. Guenzel, Patricia L. Hall, Anna I. Scott, Christina Lam, Irene J. Chang, Jenny Thies, Carlos R. Ferreira, Pavel Pichurin, William Laxen, Kimiyo Raymond, Dimitar K. Gavrilov, Devin Oglesbee, Piero Rinaldo, Dietrich Matern, Silvia Tortorelli   +14 more
doaj   +1 more source

Pediatric glutaric aciduria type 1: 14 cases, diagnosis and management

Annals of Indian Academy of Neurology, 2021
Introduction: Glutaric aciduria type I is an autosomal recessive disorder of lysine metabolism due to the defect of the enzyme glutaryl-CoA dehydrogenase.
Leema P Cornelius, Vivekasaravanan Raju, Asir Julin   +2 more
doaj   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source