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Select item 115889381.

Lipid storage myopathy associated with sertraline treatment is an acquired mitochondrial disorder with respiratory chain deficiency

Carola Hedberg-Oldfors, Ulrika Lindgren, Kittichate Visuttijai, Yan Shen, Andreea Ilinca, Sara Nordström, Christopher Lindberg, Anders Oldfors

Acta Neuropathol. 2024; 148(1): 73. Published online 2024 Nov 26. doi: 10.1007/s00401-024-02830-x

PMCID:: PMC11588938

Abstract Article PDF–4.8M

Select item 113426852.

Two PNPLA2 heterozygous mutations result in neutral lipid storage disease with myopathy: a case report

Tong Yang, Jie Zhu, Yulai Kang, Chunhua Tang, Lili Zhang, Lu Guo

BMC Musculoskelet Disord. 2024; 25: 661. Published online 2024 Aug 23. doi: 10.1186/s12891-024-07772-9

PMCID:: PMC11342685

Abstract Article PDF–1.2M

Select item 112203473.

Multiple Acyl-CoA Dehydrogenase Deficiency: Phenotypic and Genetic Features of a Malaysian Cohort

Jie Ping Schee, Joo San Tan, Cheng Yin Tan, Nortina Shahrizaila, Kum Thong Wong, Khean Jin Goh

J Clin Neurol. 2024 Jul; 20(4): 422–430. Published online 2024 May 14. doi: 10.3988/jcn.2023.0265

PMCID:: PMC11220347

Abstract Article PDF–1.0M

Select item 108739464.

The male-to-female ratio in late-onset multiple acyl-CoA dehydrogenase deficiency: a systematic review and meta-analysis

Jing Ma, Huiqiu Zhang, Feng Liang, Guanxi Li, Xiaomin Pang, Rongjuan Zhao, Juan Wang, Xueli Chang, Junhong Guo, Wei Zhang

Orphanet J Rare Dis. 2024; 19: 72. Published online 2024 Feb 16. doi: 10.1186/s13023-024-03072-6

PMCID:: PMC10873946

Abstract Article PDF–1.5M

Select item 103880015.

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

Abstract Article PDF–907K

Select item 102053246.

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

Abstract Article PDF–243K

Select item 100467597.

Effects of Triheptanoin on Mitochondrial Respiration and Glycolysis in Cultured Fibroblasts from Neutral Lipid Storage Disease Type M (NLSD-M) Patients

Nelida Inés Noguera, Daniela Tavian, Corrado Angelini, Francesca Cortese, Massimiliano Filosto, Matteo Garibaldi, Sara Missaglia, Ariela Smigliani, Alessandra Zaza, Elena Maria Pennisi

Biomolecules. 2023 Mar; 13(3): 452. Published online 2023 Mar 1. doi: 10.3390/biom13030452

PMCID:: PMC10046759

Abstract Article PDF–2.4M

Select item 99116588.

Case report: Novel ETFDH compound heterozygous mutations identified in a patient with late-onset glutaric aciduria type II

Sijia Zhu, Dongxue Ding, Jianhua Jiang, Meirong Liu, Liqiang Yu, Qi Fang

Front Neurol. 2023; 14: 1087421. Published online 2023 Jan 27. doi: 10.3389/fneur.2023.1087421

PMCID:: PMC9911658

Abstract Article PDF–2.0M

Select item 98370829.

Multiple Acyl-Coenzyme A Dehydrogenase Deficiency Leading to Severe Metabolic Acidosis in a Young Adult

Karthik Subbu, Clara Hildebrandt, Donald Caraccio

AACE Clin Case Rep. 2023 Jan-Feb; 9(1): 13–16. Published online 2022 Nov 17. doi: 10.1016/j.aace.2022.11.004

PMCID:: PMC9837082

Abstract Article PDF–410K

Select item 979905110.

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

Abstract Article PDF–1.3M

Select item 929251111.

Mimicking human riboflavin responsive neuromuscular disorders by silencing flad‐1 gene in C. elegans: Alteration of vitamin transport and cholinergic transmission

Piero Leone, Maria Tolomeo, Elisabetta Piancone, Pier Giorgio Puzzovio, Carla De Giorgi, Cesare Indiveri, Elia Di Schiavi, Maria Barile

IUBMB Life. 2022 Jul; 74(7): 672–683. Published online 2021 Sep 24. doi: 10.1002/iub.2553

PMCID:: PMC9292511

Abstract Article PDF–2.4M

Select item 907431512.

Clinical and pathological features of immune-mediated necrotising myopathies in a single-centre muscle biopsy cohort

Hongxia Yang, Xiaolan Tian, Lining Zhang, Wenli Li, Qingyan Liu, Wei Jiang, Qinglin Peng, Guochun Wang, Xin Lu

BMC Musculoskelet Disord. 2022; 23: 425. Published online 2022 May 6. doi: 10.1186/s12891-022-05372-z

PMCID:: PMC9074315

Abstract Article PDF–947K

Select item 895431913.

Mutation Spectrum of Primary Lipid Storage Myopathies

Seena Vengalil, Kiran Polavarapu, Veeramani Preethish-Kumar, Saraswati Nashi, Gautham Arunachal, Tanushree Chawla, Mainak Bardhan, Dhaarini Mohan, Rita Christopher, Nandeesh Bevinahalli, Karthik Kulanthaivelu, Ichizo Nishino, Mohammad Faruq, Atchayaram Nalini

Ann Indian Acad Neurol. 2022 Jan-Feb; 25(1): 106–113. Published online 2022 Feb 1. doi: 10.4103/aian.aian_333_21

PMCID:: PMC8954319

Abstract Article PDF–1.3M

Select item 894331414.

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

Abstract Article PDF–489K

Select item 860653715.

Clinical Presentations and Genetic Characteristics of Late-Onset MADD Due to ETFDH Mutations in Five Patients: A Case Series

Zhenchu Tang, Shan Gao, Miao He, Qihua Chen, Jia Fang, Yingying Luo, Weiqian Yan, Xiaoliu Shi, Hui Huang, Jianguang Tang

Front Neurol. 2021; 12: 747360. Published online 2021 Nov 8. doi: 10.3389/fneur.2021.747360

PMCID:: PMC8606537

Abstract Article PDF–1020K

Select item 800659816.

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