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

Year Number of Results
1985 2
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1988 1
1989 1
1995 1
1996 1
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2000 1
2004 1
2008 2
2009 1
2010 5
2011 1
2012 2
2013 2
2014 3
2015 4
2016 2
2017 1
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2021 6
2022 1
2023 0

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43 results

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Page 1
Metabolic myopathies.
Tein I. Tein I. Semin Pediatr Neurol. 1996 Jun;3(2):59-98. doi: 10.1016/s1071-9091(96)80038-6. Semin Pediatr Neurol. 1996. PMID: 8795843 Review.
Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid maltase, debrancher enzyme, and brancher enzyme deficiencies among the glycogenoses; long- and very-long-chain acyl-CoA dehyd …
Disorders of glycogen, lipid or mitochondrial metabolism may cause two main clinical syndromes, namely (1) progressive weakness (eg, acid ma …
Exploring the contribution of mitochondrial dynamics to multiple acyl-CoA dehydrogenase deficiency-related phenotype.
Brandão SR, Ferreira R, Rocha H. Brandão SR, et al. Arch Physiol Biochem. 2021 Jun;127(3):210-216. doi: 10.1080/13813455.2019.1628065. Epub 2019 Jun 19. Arch Physiol Biochem. 2021. PMID: 31215835 Review.
Emphasis is given to the signaling pathways involving MnSOD, sirtuins and PGC-1alpha, which seem to contribute to FAOD phenotype, namely to multiple acyl-CoA dehydrogenase deficiency (MADD). The association between phenotype and genotype is not …
Emphasis is given to the signaling pathways involving MnSOD, sirtuins and PGC-1alpha, which seem to contribute to FAOD phenotype, namely to …
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
Yamada K, Taketani T. Yamada K, et al. J Hum Genet. 2019 Feb;64(2):73-85. doi: 10.1038/s10038-018-0527-7. Epub 2018 Nov 6. J Hum Genet. 2019. PMID: 30401918 Review.
Mitochondrial fatty acid oxidation disorders (FAODs) are caused by defects in beta-oxidation enzymes, including very long-chain acyl-CoA dehydrogenase (VLCAD), trifunctional protein (TFP), carnitine palmitoyltransferase-2 (CPT2), carnitine-acylcarnitine trans …
Mitochondrial fatty acid oxidation disorders (FAODs) are caused by defects in beta-oxidation enzymes, including very long-chain acyl- …
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 de …
ETF dehydrogenase advances in molecular genetics and impact on treatment.
Missaglia S, Tavian D, Angelini C. Missaglia S, et al. Crit Rev Biochem Mol Biol. 2021 Aug;56(4):360-372. doi: 10.1080/10409238.2021.1908952. Epub 2021 Apr 7. Crit Rev Biochem Mol Biol. 2021. PMID: 33823724 Review.
ETF-QO mutations are often associated with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (RR-MADD, OMIM#231680), a multisystem genetic disease characterized by various clinical manifestations with different degrees of severity …
ETF-QO mutations are often associated with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency …
Neonatal-onset multiple acyl-CoA dehydrogenase deficiency (MADD) in the ETFDH gene: A case report and a literature review.
Ding M, Liu R, Qiubo L, Zhang Y, Kong Q. Ding M, et al. Medicine (Baltimore). 2020 Sep 11;99(37):e21944. doi: 10.1097/MD.0000000000021944. Medicine (Baltimore). 2020. PMID: 32925727 Free PMC article. Review.
RATIONALE: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecting fatty acid, amino acid, and choline metabolism. ...Serum tandem mass spectrometry analysis indicated elevated levels of various acyl …
RATIONALE: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a rare inborn error of metabolism affecti …
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.
Brown-Vialetto-Van Laere syndrome and Fazio-Londe diseases are now renamed as "riboflavin transporter deficiency" because these are autosomal recessive diseases caused by mutations of SLC52A2 and SLC52A3 genes that encode riboflavin transporters. ...Remarkably, some mitoch …
Brown-Vialetto-Van Laere syndrome and Fazio-Londe diseases are now renamed as "riboflavin transporter deficiency" because these are a …
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-ubiquinone oxidoreductase (ETFQO) …
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD), or glutaric aciduria type II (GAII), is a group …
Spectrum of metabolic myopathies.
Angelini C. Angelini C. Biochim Biophys Acta. 2015 Apr;1852(4):615-21. doi: 10.1016/j.bbadis.2014.06.031. Epub 2014 Jul 2. Biochim Biophys Acta. 2015. PMID: 24997454 Free article. Review.
This review is focused on recent advances about GSDII and its treatment, and the most recent notions about the management and treatment of other metabolic myopathies will be briefly reviewed, including glycogenosis type V (McArdle disease), glycogenosis type III (debrancher enzym …
This review is focused on recent advances about GSDII and its treatment, and the most recent notions about the management and treatment of o …
Lipid storage myopathies.
Bruno C, Dimauro S. Bruno C, et al. Curr Opin Neurol. 2008 Oct;21(5):601-6. doi: 10.1097/WCO.0b013e32830dd5a6. Curr Opin Neurol. 2008. PMID: 18769256 Review.
At least one genetic defect responsible for the myopathic form of CoQ10 deficiency has been identified, causing a disorder that is allelic with the late-onset riboflavine-responsive form of multiple acyl-coenzyme A dehydrogenation deficiency. No …
At least one genetic defect responsible for the myopathic form of CoQ10 deficiency has been identified, causing a disorder that is al …
43 results