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Items: 1 to 20 of 38

1.
The clinical, pathological, and genetic characteristics of lipid storage myopathy in northern China
Jingzhe HAN, Shan LU, Xueqin SONG, Guang JI, Yanan XIE, Hongran WU
Turk J Med Sci. 2022; 52(4): 1256–1265. Published online 2022 May 12. doi: 10.55730/1300-0144.5431
PMCID:
PMC10388001
ArticlePDF–907K
2.
Detection of FLAD1 mutations and lipid storage myopathy in a 5-year-old boy: a case report study
Seyed Ahmad Hosseini, Layla Shojaie, Mousa Ghelichi-Ghojogh
Ann Med Surg (Lond) 2023 May; 85(5): 2049–2051. Published online 2023 Apr 18. doi: 10.1097/MS9.0000000000000561
PMCID:
PMC10205324
ArticlePDF–243K
3.
Lipid storage myopathy due to late-onset multiple Acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH: A case report
Huihong Tian, Yi Zhong, Zhihua Liu, Liping Wei, Yanbo Yuan, Yuhu Zhang, Limin Wang
Front Neurol. 2022; 13: 991060. Published online 2022 Dec 15. doi: 10.3389/fneur.2022.991060
PMCID:
PMC9799051
ArticlePDF–1.3M
4.
Lipid-storage myopathy with glycogen storage disease gene mutations mimicking polymyositis: a case report and review of the literature
Xiaoli Pan, Yuan Yuan, Bangcui Wu, Wendan Zheng, Mei Tian
J Int Med Res. 2022 Mar; 50(3): 03000605221084873. Published online 2022 Mar 17. doi: 10.1177/03000605221084873
PMCID:
PMC8943314
ArticlePDF–489K
5.
Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis
Arda Yavuz, Gökçen Ünverengil, Ayşe Nur Toksöz Yıldırım, Hatice Şeyma Maraşlı, İlyas Tuncer
Eur J Case Rep Intern Med. 2020; 7(12): 001980. Published online 2020 Oct 7. doi: 10.12890/2020_001980
PMCID:
PMC7727632
ArticlePDF–1.0M
6.
Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study
Jingzhe Han, Xueqin Song, Shan Lu, Guang Ji, Yanan Xie, Hongran Wu
Med Sci Monit. 2019; 25: 9103–9111. Published online 2019 Nov 30. doi: 10.12659/MSM.918841
PMCID:
PMC6900922
ArticlePDF–3.1M
7.
Two novel ETFDH mutations in a patient with lipid storage myopathy
Hong-Liang Xu, Ya-Jun Lian, Xin Chen, Lu Zhang, Xuan Cheng
Chin Med J (Engl) 2019 Aug 5; 132(15): 1876–1878. Published online 2019 Aug 5. doi: 10.1097/CM9.0000000000000310
PMCID:
PMC6759130
ArticlePDF–593K
8.
Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation–Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency
Sadanandavalli R. Chandra, Rita Christopher, Gayathri Narayanappa, Nitin C. Ramanujam, Pavan Katragadda, Akshata Huddar, Shreyashi Jha
J Pediatr Neurosci. 2018 Jul-Sep; 13(3): 362–365. doi: 10.4103/JPN.JPN_21_18
PMCID:
PMC6144612
Article
9.
Persistent hypoglycemia associated with lipid storage myopathy in a paint foal
Toby L. Pinn, Thomas J. Divers, Teresa Southard, Nikhita P. De Bernardis, Joe J. Wakshlag, Stephanie Valberg
J Vet Intern Med. 2018 Jul-Aug; 32(4): 1442–1446. Published online 2018 Jun 29. doi: 10.1111/jvim.15218
PMCID:
PMC6060329
ArticlePDF–503K
10.
Heterogeneous Phenotypes in Lipid Storage Myopathy Due to ETFDH Gene Mutations
Corrado Angelini, Daniela Tavian, Sara Missaglia
JIMD Rep. 2018; 38: 33–40. Published online 2017 Apr 30. doi: 10.1007/8904_2017_27
PMCID:
PMC5874208
ArticlePDF–542K
11.
Skeletal Muscle Magnetic Resonance Imaging of the Lower Limbs in Late-onset Lipid Storage Myopathy with Electron Transfer Flavoprotein Dehydrogenase Gene Mutations
Xin-Yi Liu, Ming Jin, Zhi-Qiang Wang, Dan-Ni Wang, Jun-Jie He, Min-Ting Lin, Hong-Xia Fu, Ning Wang
Chin Med J (Engl) 2016 Jun 20; 129(12): 1425–1431. doi: 10.4103/0366-6999.183423
PMCID:
PMC4910365
ArticlePDF–1.3M
12.
Metabolic Encephalopathy and Lipid Storage Myopathy Associated with a Presumptive Mitochondrial Fatty Acid Oxidation Defect in a Dog
Vanessa R. Biegen, John P. McCue, Taryn A. Donovan, G. Diane Shelton
Front Vet Sci. 2015; 2: 64. Published online 2015 Nov 26. doi: 10.3389/fvets.2015.00064
PMCID:
PMC4672276
ArticlePDF–6.5M
13.
Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association
Subasree Ramakrishnan, Gayathri Narayanappa, Rita Christopher
Ann Indian Acad Neurol. 2012 Oct-Dec; 15(4): 332–335. doi: 10.4103/0972-2327.104352
PMCID:
PMC3548382
ArticlePDF–1.5M
14.
Lipid Storage Myopathy in Behçet's Disease: A Rare Cause of Elevated Serum Creatine Kinases Levels
Sedat Yilmaz, Muhammet Cinar, Yıldırım Karslioglu, Ismail Simsek, Hakan Erdem, Salih Pay, Ayhan Dinc
Case Rep Rheumatol. 2012; 2012: 283259. Published online 2012 Jun 28. doi: 10.1155/2012/283259
PMCID:
PMC3420721
ArticlePDF–1.7M
15.
Lipid storage myopathy: successful treatment with propranolol.
C Martyn, E H Jellinek, J N Webb
Br Med J (Clin Res Ed) 1981 Jun 20; 282(6281): 1997–1999. doi: 10.1136/bmj.282.6281.1997
PMCID:
PMC1505898
SummaryPage BrowsePDF–1.2M
16.
Influence of chain length of pyrene fatty acids on their uptake and metabolism by Epstein-Barr-virus-transformed lymphoid cell lines from a patient with multisystemic lipid storage myopathy and from control subjects.
J Radom, R Salvayre, T Levade, L Douste-Blazy
Biochem J. 1990 Jul 1; 269(1): 107–113. doi: 10.1042/bj2690107
PMCID:
PMC1131538
SummaryPage BrowsePDF–1.1M
17.
Autosomal recessive lipid storage myopathy (probable carnitine deficiency).
C Almog, K Fried, R Reif, J Zieghelboim, G Lewinsohn
J Med Genet. 1979 Dec; 16(6): 435–438. doi: 10.1136/jmg.16.6.435
PMCID:
PMC1012589
SummaryPage BrowsePDF–1.0M
18.
Fatal cases of lipid storage myopathy with carnitine deficiency.
F Cornelio, S Di Donato, D Peluchetti, A Bizze, B Bertagnolio, A D'Angelo, U Wiesmann
J Neurol Neurosurg Psychiatry. 1977 Feb; 40(2): 170–178. doi: 10.1136/jnnp.40.2.170
PMCID:
PMC492634
SummaryPage BrowsePDF–3.0M
19.
Adult-onset Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD)
Farzad Fatehi, Ali Asghar Okhovat, Yalda Nilipour, Magdalena Mroczek, Volker Straub, Ana Töpf, Aleksa Palibrk, Stojan Peric, Vidosava Rakocevic Stojanovic, Hossein Najmabadi, Shahriar Nafissi
Eur J Neurol. Author manuscript; available in PMC 2021 Nov 1.
Published in final edited form as: Eur J Neurol. 2020 Nov; 27(11): 2257–2266. Published online 2020 Jul 24. doi: 10.1111/ene.14402
PMCID:
PMC8006598
ArticlePDF–1.2M
20.
Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (MADD): case reports and epidemiology of ETFDH gene mutations
Wei Chen, Youqiao Zhang, Yifeng Ni, Shaoyu Cai, Xin Zheng, Frank L. Mastaglia, Jingshan Wu
BMC Neurol. 2019; 19: 330. Published online 2019 Dec 18. doi: 10.1186/s12883-019-1562-5
PMCID:
PMC6921586
ArticlePDF–916K

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