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Page 1
Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review.
Vester ME, Bilo RA, Karst WA, Daams JG, Duijst WL, van Rijn RR. Vester ME, et al. Forensic Sci Med Pathol. 2015 Sep;11(3):405-15. doi: 10.1007/s12024-015-9698-0. Epub 2015 Jul 29. Forensic Sci Med Pathol. 2015. PMID: 26219480 Free PMC article. Review.
PURPOSE: Glutaric aciduria type 1 (GA1) is a rare metabolic disorder of glutaryl-CoA-dehydrogenase enzyme deficiency. ...METHODS: A systematic literature review, with language restriction, of papers published before 1 Jan 2015, was performed usi …
PURPOSE: Glutaric aciduria type 1 (GA1) is a rare metabolic disorder of glutaryl-CoA-dehydrogenase enzyme defici …
[Complex heterogeneity phenotypes and genotypes of glutaric aciduria type 1].
Wang Q, Yang YL. Wang Q, et al. Zhongguo Dang Dai Er Ke Za Zhi. 2016 May;18(5):460-5. doi: 10.7499/j.issn.1008-8830.2016.05.016. Zhongguo Dang Dai Er Ke Za Zhi. 2016. PMID: 27165598 Free PMC article. Review. Chinese.
Patients with glutaric aciduria type 1 present with complex heterogeneous phenotypes and genotypes. ...The ages of the clinical onset of the patients range from the fetus period to adulthood. The patients with mild glutaric aciduria ty …
Patients with glutaric aciduria type 1 present with complex heterogeneous phenotypes and genotypes. ...The ages …
Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting.
Superti-Furga A, Hoffmann GF. Superti-Furga A, et al. Eur J Pediatr. 1997 Nov;156(11):821-8. doi: 10.1007/s004310050721. Eur J Pediatr. 1997. PMID: 9392391 Review.
Infants with macrocephaly, young children with acute disease resembling encephalitis, and children with truncal hypotonia, ataxia, or dystonia may be affected by glutaric aciduria type I (GA 1, glutaryl-CoA-dehydrogenase deficiency), a not-so-rare auto …
Infants with macrocephaly, young children with acute disease resembling encephalitis, and children with truncal hypotonia, ataxia, or dyston …
Deep brain stimulation and intrathecal/intraventricular baclofen for glutaric aciduria type 1: A scoping review, individual patient data analysis, and clinical trials review.
Shlobin NA, Hofmann K, Keating RF, Oluigbo CO. Shlobin NA, et al. J Inherit Metab Dis. 2023 Jul;46(4):543-553. doi: 10.1002/jimd.12638. Epub 2023 Jun 13. J Inherit Metab Dis. 2023. PMID: 37254447 Review.
Glutaric aciduria type 1 (GA1) is an autosomal recessive disease frequently leading to dystonia. ...In the IPD analysis, four studies with 5 patients (2 IVB, 2 DBS, 1 ITB) were included. The average percent reduction in dystonia was 29.9% 32.5% …
Glutaric aciduria type 1 (GA1) is an autosomal recessive disease frequently leading to dystonia. ...In the IPD a …
Nonaccidental head injury.
Roujeau T, Mireau E, Bourgeois M. Roujeau T, et al. Handb Clin Neurol. 2013;112:905-12. doi: 10.1016/B978-0-444-52910-7.00012-X. Handb Clin Neurol. 2013. PMID: 23622300 Review.
Despite heterogeneous clinical presentation, symptoms are related to brain edema with intracranial hypertension and/or seizures that should prompt early diagnosis and treatment. Two main differential diagnoses are glutaric aciduria type 1 and Menkes di …
Despite heterogeneous clinical presentation, symptoms are related to brain edema with intracranial hypertension and/or seizures that should …
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
Boy N, Mühlhausen C, Maier EM, Heringer J, Assmann B, Burgard P, Dixon M, Fleissner S, Greenberg CR, Harting I, Hoffmann GF, Karall D, Koeller DM, Krawinkel MB, Okun JG, Opladen T, Posset R, Sahm K, Zschocke J, Kölker S; Additional individual contributors. Boy N, et al. J Inherit Metab Dis. 2017 Jan;40(1):75-101. doi: 10.1007/s10545-016-9999-9. Epub 2016 Nov 16. J Inherit Metab Dis. 2017. PMID: 27853989 Review.
Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease caused by deficiency of glutaryl-CoA dehydrogenase located in the catabolic pathways of L-lysine, L-hydroxylysine, and L-tryptophan. The enz …
Glutaric aciduria type I (GA-I; synonym, glutaric acidemia type I) is a rare inherited metabolic disease …
Inherited Disorders of Lysine Metabolism: A Review.
Bouchereau J, Schiff M. Bouchereau J, et al. J Nutr. 2020 Oct 1;150(Suppl 1):2556S-2560S. doi: 10.1093/jn/nxaa112. J Nutr. 2020. PMID: 33000154 Free article. Review.
Although some of these enzyme defects are not well described yet, glutaric aciduria type I (GA1) and antiquitin (2-aminoadipic-6-semialdehyde dehydrogenase) deficiency represent the most well-characterized diseases. ...Antiquitin deficiency is the most common …
Although some of these enzyme defects are not well described yet, glutaric aciduria type I (GA1) and antiquitin (2-amin …
Diagnosis and management of glutaric aciduria type I.
Barić I, Zschocke J, Christensen E, Duran M, Goodman SI, Leonard JV, Müller E, Morton DH, Superti-Furga A, Hoffmann GF. Barić I, et al. J Inherit Metab Dis. 1998 Jun;21(4):326-40. doi: 10.1023/a:1005390105171. J Inherit Metab Dis. 1998. PMID: 9700590 Review.
Glutaric aciduria type I (GA1) is a preventable cause of acute brain damage in early childhood, leading to a severe dystonic-dyskinetic disorder that is similar to cerebral palsy and ranges from extreme hypotonia to choreoathetosis to rigidity with spasticity …
Glutaric aciduria type I (GA1) is a preventable cause of acute brain damage in early childhood, leading to a severe dys …
Leukoencephalopathies associated with macrocephaly.
Renaud DL. Renaud DL. Semin Neurol. 2012 Feb;32(1):34-41. doi: 10.1055/s-0032-1306384. Epub 2012 Mar 15. Semin Neurol. 2012. PMID: 22422204 Review.
When macrocephaly is seen in conjunction with abnormal white matter on neuroimaging, specific genetic leukoencephalopathies should be considered, including Alexander's disease, Canavan's disease, childhood ataxia with central hypomyelination/ vanishing white matter disease (CACH/ …
When macrocephaly is seen in conjunction with abnormal white matter on neuroimaging, specific genetic leukoencephalopathies should be consid …
Update current understanding of neurometabolic disorders related to lysine metabolism.
Chang FM. Chang FM. Epilepsy Behav. 2023 Sep;146:109363. doi: 10.1016/j.yebeh.2023.109363. Epub 2023 Jul 25. Epilepsy Behav. 2023. PMID: 37499576 Review.
Enzyme deficiency caused by pathogenic variants in its metabolic pathway may lead to a series of neurometabolic diseases, among which glutaric aciduria type 1 and pyridoxine-dependent epilepsy have the most significant clinical manifestations. ...Prese …
Enzyme deficiency caused by pathogenic variants in its metabolic pathway may lead to a series of neurometabolic diseases, among which glu …
31 results