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1985 2
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1988 1
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2000 1
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2010 5
2011 1
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51 results

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Page 1
Late-onset myopathies.
Salort-Campana E, Attarian S. Salort-Campana E, et al. Curr Opin Neurol. 2024 Oct 1;37(5):523-535. doi: 10.1097/WCO.0000000000001298. Epub 2024 Jul 16. Curr Opin Neurol. 2024. PMID: 39017649 Review.
In addition, metabolic myopathies, which are classically early-onset diseases, are also diagnoses to be considered, particularly as they may be treatable. Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) has recently been identified …
In addition, metabolic myopathies, which are classically early-onset diseases, are also diagnoses to be considered, particularly as they may …
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 …
Efficacy and safety of D,L-3-hydroxybutyrate (D,L-3-HB) treatment in multiple acyl-CoA dehydrogenase deficiency.
van Rijt WJ, Jager EA, Allersma DP, Aktuğlu Zeybek AÇ, Bhattacharya K, Debray FG, Ellaway CJ, Gautschi M, Geraghty MT, Gil-Ortega D, Larson AA, Moore F, Morava E, Morris AA, Oishi K, Schiff M, Scholl-Bürgi S, Tchan MC, Vockley J, Witters P, Wortmann SB, van Spronsen F, Van Hove JLK, Derks TGJ. van Rijt WJ, et al. Genet Med. 2020 May;22(5):908-916. doi: 10.1038/s41436-019-0739-z. Epub 2020 Jan 6. Genet Med. 2020. PMID: 31904027 Free PMC article.
PURPOSE: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a life-threatening, ultrarare inborn error of metabolism. ...
PURPOSE: Multiple acyl-CoA dehydrogenase deficiency (MADD) is a life-threatening, ultrarare inborn error …
The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis.
Ma J, Zhang H, Liang F, Li G, Pang X, Zhao R, Wang J, Chang X, Guo J, Zhang W. Ma J, et al. Orphanet J Rare Dis. 2024 Feb 16;19(1):72. doi: 10.1186/s13023-024-03072-6. Orphanet J Rare Dis. 2024. PMID: 38365830 Free PMC article.
BACKGROUND: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common lipid storage myopathy. ...
BACKGROUND: Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is the most common lipid storage …
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 storag …
Although extensive molecular studies have been performed, there are only four types of genetically diagnosable LSMs: primary carnitine de
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. Novel mec …
At least one genetic defect responsible for the myopathic form of CoQ10 deficiency has been identified, causing a disorder that is al …
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 …
A systematic review of late-onset and very-late-onset multiple acyl-coenzyme A dehydrogenase deficiency: Cohort analysis and patient report from Taiwan.
Kuo YC, Hsueh HW, Hsueh SJ, Lee NC, Hsieh MJ, Chao CC, Chien YH, Huang PH, Yang CC. Kuo YC, et al. Neuromuscul Disord. 2021 Mar;31(3):218-225. doi: 10.1016/j.nmd.2021.01.006. Epub 2021 Jan 13. Neuromuscul Disord. 2021. PMID: 33589341
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare metabolic disorder with a dramatic clinical presentation. ...
Multiple acyl-coenzyme A dehydrogenase deficiency (MADD) is a rare metabolic disorder with a drama
[Progress of glutaric aciduria type I].
Gao JZ, Luo XP. Gao JZ, et al. Zhonghua Er Ke Za Zhi. 2012 Dec;50(12):912-4. Zhonghua Er Ke Za Zhi. 2012. PMID: 23324148 Review. Chinese. No abstract available.
51 results