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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1980 1
1982 1
1983 2
1986 1
1987 2
1988 1
1990 3
1991 2
1992 3
1993 2
1994 3
1995 2
1996 2
1997 1
1998 1
1999 3
2001 1
2002 3
2004 1
2005 1
2007 5
2008 13
2009 8
2010 22
2011 14
2012 9
2013 9
2014 12
2015 10
2016 9
2017 15
2018 20
2019 18
2020 25
2021 23
2022 16
2023 10
2024 8

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242 results

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Page 1
Riboflavin in Neurological Diseases: A Narrative Review.
Plantone D, Pardini M, Rinaldi G. Plantone D, et al. Clin Drug Investig. 2021 Jun;41(6):513-527. doi: 10.1007/s40261-021-01038-1. Epub 2021 Apr 22. Clin Drug Investig. 2021. PMID: 33886098 Review.
It is required for the conversion of oxidised glutathione to the reduced form and for the mitochondrial respiratory chain as complexes I and II contain flavoprotein reductases and electron transferring flavoproteins. ...
It is required for the conversion of oxidised glutathione to the reduced form and for the mitochondrial respiratory chain as complexes I and …
Metabolic annotation of 2-ethylhydracrylic acid.
Ryan RO. Ryan RO. Clin Chim Acta. 2015 Aug 25;448:91-7. doi: 10.1016/j.cca.2015.06.012. Epub 2015 Jun 23. Clin Chim Acta. 2015. PMID: 26115894 Free PMC article. Review.
Glutaric acidemia type 1: Treatment and outcome of 168 patients over three decades.
Strauss KA, Williams KB, Carson VJ, Poskitt L, Bowser LE, Young M, Robinson DL, Hendrickson C, Beiler K, Taylor CM, Haas-Givler B, Hailey J, Chopko S, Puffenberger EG, Brigatti KW, Miller F, Morton DH. Strauss KA, et al. Mol Genet Metab. 2020 Nov;131(3):325-340. doi: 10.1016/j.ymgme.2020.09.007. Epub 2020 Oct 4. Mol Genet Metab. 2020. PMID: 33069577 Free article.
Glutaric acidemia type 1 (GA1) is a disorder of cerebral organic acid metabolism resulting from biallelic mutations of GCDH. ...The incidence of striatal degeneration in Cohorts I, II, and III was 7%, 47%, and 90%, respectively (p < .0001). No neuro …
Glutaric acidemia type 1 (GA1) is a disorder of cerebral organic acid metabolism resulting from biallelic mutations of …
Disorders of flavin adenine dinucleotide metabolism: MADD and related deficiencies.
Mereis M, Wanders RJA, Schoonen M, Dercksen M, Smuts I, van der Westhuizen FH. Mereis M, et al. Int J Biochem Cell Biol. 2021 Mar;132:105899. doi: 10.1016/j.biocel.2020.105899. Epub 2020 Dec 3. Int J Biochem Cell Biol. 2021. PMID: 33279678 Review.
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), or glutaric aciduria type II (GAII), is a group of clinically heterogeneous disorders caused by mutations in electron transfer flavoprotein (ETF) and ETF-ubiqu …
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), or glutaric aciduria type …
Lipid storage myopathy.
Liang WC, Nishino I. Liang WC, et al. Curr Neurol Neurosci Rep. 2011 Feb;11(1):97-103. doi: 10.1007/s11910-010-0154-y. Curr Neurol Neurosci Rep. 2011. PMID: 21046290 Review.
Although extensive molecular studies have been performed, there are only four types of genetically diagnosable LSMs: primary carnitine deficiency (PCD), multiple acyl-coenzyme A dehydrogenase deficiency (MADD), neutral lipid storage disea …
Although extensive molecular studies have been performed, there are only four types of genetically diagnosable LSMs: primary carnitine defic …
Proximal muscle weakness.
Gonzalez-Perez P, Torre M, Helgager J, Amato AA. Gonzalez-Perez P, et al. Pract Neurol. 2019 Aug;19(4):321-325. doi: 10.1136/practneurol-2019-002204. Epub 2019 Apr 4. Pract Neurol. 2019. PMID: 30948559 Free PMC article. No abstract available.
Prenatal and foetal autopsy findings in glutaric aciduria type II.
Martinez-Aracil A, Ruiz-Onandi R, Perez-Rodriguez A, Sagasta A, Llano-Rivas I, Perez de Nanclares G. Martinez-Aracil A, et al. Birth Defects Res. 2020 Nov;112(19):1738-1749. doi: 10.1002/bdr2.1805. Epub 2020 Sep 22. Birth Defects Res. 2020. PMID: 32959991
BACKGROUND: Glutaric aciduria type 2 is a rare, lethal disorder that affects metabolism of fatty acids caused by genetic defects in electron transfer (ETF) or in electron transfer flavoprotein dehydrogenase (ETFDH). ...Genotype-phenotype relationship is important wh …
BACKGROUND: Glutaric aciduria type 2 is a rare, lethal disorder that affects metabolism of fatty acids caused by genetic defec …
Management of pregnancy and childbirth in a patient with glutaric aciduria type II.
Restaino S, Sala A, Angelini M, Zanin V, Poli A, Angeli C, Ferrara F, Pezzarini V, Vizzielli G, Driul L. Restaino S, et al. Minerva Obstet Gynecol. 2024 Feb;76(1):102-106. doi: 10.23736/S2724-606X.22.05121-1. Epub 2022 Oct 18. Minerva Obstet Gynecol. 2024. PMID: 36255160 Review.
Glutaric aciduria type II (GA II) is a genetic disorder that interferes with the body's ability to break down proteins and fats to produce energy. ...A 37-year-old primigravida woman affected by a mild form of GA II presented to our high-risk de …
Glutaric aciduria type II (GA II) is a genetic disorder that interferes with the body's ability to break down pr …
Glutaric acidemia type II: heterogeneity of clinical and biochemical phenotypes.
Loehr JP, Goodman SI, Frerman FE. Loehr JP, et al. Pediatr Res. 1990 Mar;27(3):311-5. doi: 10.1203/00006450-199003000-00024. Pediatr Res. 1990. PMID: 2320399
We have examined 23 fibroblast lines from patients with neonatal and late onset glutaric acidemia type II and fibroblasts from four parents of these patients. ...Patients may present with an extrapyramidal movement disorder as observed in glutaric …
We have examined 23 fibroblast lines from patients with neonatal and late onset glutaric acidemia type II and fi …
242 results