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Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
Molecular Genetics and Metabolism, 2012Glutaric acidemia type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism. Patients may present with brain atrophy, macrocephaly, and acute dystonia secondary to striatal degeneration typically triggered by an infection, fever, and/or dehydration.
K. Viau +5 more
semanticscholar +3 more sources
Pediatric Neurosurgery, 2016
Glutaric acidemia type 1 is a rare autosomal recessive disease caused by a deficiency of glutaryl-CoA dehydrogenase. Previous studies have reported subdural hemorrhage in untreated patients with glutaric acidemia type 1. However, there is only one report of severe acute subdural hemorrhage after minor head trauma in a patient with glutaric acidemia ...
Mika Ishige +6 more
semanticscholar +3 more sources
Glutaric acidemia type 1 is a rare autosomal recessive disease caused by a deficiency of glutaryl-CoA dehydrogenase. Previous studies have reported subdural hemorrhage in untreated patients with glutaric acidemia type 1. However, there is only one report of severe acute subdural hemorrhage after minor head trauma in a patient with glutaric acidemia ...
Mika Ishige +6 more
semanticscholar +3 more sources
Journal of Neuroscience Research, 2004
AbstractGlutaric acidemia type 1 (GA1) is an autosomal recessively inherited deficiency of glutaryl‐CoA dehydrogenase. Accumulating metabolites, 3‐hydroxyglutaric (3‐OH‐GA), glutaric (GA), and trans‐glutaconic (TG) acids, have been proposed to be involved in the development of the striatal degeneration seen in children with GA1 via an excitotoxic ...
T. M. Lund +4 more
semanticscholar +4 more sources
AbstractGlutaric acidemia type 1 (GA1) is an autosomal recessively inherited deficiency of glutaryl‐CoA dehydrogenase. Accumulating metabolites, 3‐hydroxyglutaric (3‐OH‐GA), glutaric (GA), and trans‐glutaconic (TG) acids, have been proposed to be involved in the development of the striatal degeneration seen in children with GA1 via an excitotoxic ...
T. M. Lund +4 more
semanticscholar +4 more sources
Glutaric Acidemia Type 1: Case Report
2014Introduction: Glutaric academia type I is a metabolic disorder that is caused due to deficiency of glutaryl-CoA dehydrogenase. Macrocephaly is a common sign in GA1, although many infants usually appear healthy at birth. Case Report A 5.5 year old boy with GA1was admitted to NICU. Chief compliance of patient for hospitalization was pneumonia and sepsis
Banikazemi, Zarin +2 more
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Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1.
Molecular Genetics and Metabolism, 2011Glutaric acidemia type 1 (GA1) is a metabolic disease caused by a deficiency of glutaryl-CoA dehydrogenase (GCDH). Untreated patients mostly develop severe striatal degeneration. More than 200 mutations have been reported in the GCDH gene, and common R402W and IVS10-2A>C were found in Caucasian and Chinese/Taiwanese, respectively.
Yuichi Mushimoto +7 more
semanticscholar +3 more sources
Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina
Molecular Genetics and Metabolism, 2006Glutaric acidemia type I (GA-I) is an autosomal recessive disorder of the catabolism of lysine, hydroxylysine, and tryptophan caused by deficiency of glutaryl-CoA dehydrogenase (GCD). Among our patients with GA-I, we noted a prevalence of Lumbee individuals. The Lumbee are a close-knit Native American tribe of eastern North Carolina.
Alice A, Basinger +5 more
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The Journal of Pediatrics, 2000
In patients with glutaric acidemia type 1 (GAI), biochemical and molecular markers fail to predict the course of individual patients; therefore we sought to identify nonbiochemical variables that correlate with severity of motor deficits or overall clinical outcome.Archival data was collected from 42 published articles describing 115 patients with GA1.
K. Bjugstad, S. Goodman, C. Freed
semanticscholar +3 more sources
In patients with glutaric acidemia type 1 (GAI), biochemical and molecular markers fail to predict the course of individual patients; therefore we sought to identify nonbiochemical variables that correlate with severity of motor deficits or overall clinical outcome.Archival data was collected from 42 published articles describing 115 patients with GA1.
K. Bjugstad, S. Goodman, C. Freed
semanticscholar +3 more sources
An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1
Journal of Inherited Metabolic Disease, 2012AbstractGlutaric acidemia type I (GA1) is associated with elevated glutarylcarnitine (C5DC), typically measured as its butylester by acylcarnitine profile analysis using tandem mass spectrometry (MS/MS) and the precursor‐product ion pair of m/z 388‐85. This method neither distinguishes between C5DC and its isomer 3‐hydroxydecanoylcarnitine (C10‐OH) nor
T. Moore, Anthony T. Le, T. Cowan
semanticscholar +3 more sources
Quantitative Imaging in Medicine and Surgery, 2023
Haige Zheng +8 more
semanticscholar +1 more source
Haige Zheng +8 more
semanticscholar +1 more source