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2006 1
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2010 6
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2012 7
2013 5
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2015 6
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2020 7
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Page 1
Neutral lipid storage disease with myopathy: A 10-year follow-up case report.
Missaglia S, Tavian D, Angelini C. Missaglia S, et al. Eur J Transl Myol. 2022 Jun 17;32(2):10645. doi: 10.4081/ejtm.2022.10645. Eur J Transl Myol. 2022. PMID: 35713537 Free PMC article.
The disorder that results in abnormal storage of neutral lipid is known as neutral lipid storage disease with myopathy (NLSDM). We report the follow-up of a 30-year-old woman with NLSDM, asymptomatic until age 23. ...
The disorder that results in abnormal storage of neutral lipid is known as neutral lipid storage disease with …
Neutral lipid-storage disease with myopathy and extended phenotype with novel PNPLA2 mutation.
Massa R, Pozzessere S, Rastelli E, Serra L, Terracciano C, Gibellini M, Bozzali M, Arca M. Massa R, et al. Muscle Nerve. 2016 Apr;53(4):644-8. doi: 10.1002/mus.24983. Epub 2016 Feb 22. Muscle Nerve. 2016. PMID: 26600210 Review.
INTRODUCTION: Neutral lipid-storage disease with myopathy is caused by mutations in PNPLA2, which produce skeletal and cardiac myopathy. ...
INTRODUCTION: Neutral lipid-storage disease with myopathy is caused by mutations in PNPLA2, which …
Neutral lipid storage disease with myopathy in China: a large multicentric cohort study.
Zhang W, Wen B, Lu J, Zhao Y, Hong D, Zhao Z, Zhang C, Luo Y, Qi X, Zhang Y, Song X, Zhao Y, Zhao C, Hu J, Yang H, Wang Z, Yan C, Yuan Y. Zhang W, et al. Orphanet J Rare Dis. 2019 Oct 26;14(1):234. doi: 10.1186/s13023-019-1209-z. Orphanet J Rare Dis. 2019. PMID: 31655616 Free PMC article.
BACKGROUND: Neutral lipid storage disease with myopathy (NLSDM) is a rare clinical heterogeneous disorder caused by mutations in the patatin-like phospholipase domain-containing 2 (PNPLA2) gene. ...
BACKGROUND: Neutral lipid storage disease with myopathy (NLSDM) is a rare clinical heterogeneous d …
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 disease with ichthyosis, and neutral …
Although extensive molecular studies have been performed, there are only four types of genetically diagnosable LSMs: primary carnitine defic …
Neutral lipid storage disease with myopathy with a novel homozygous PNPLA2 variant.
Yamada K, Yaguchi H, Abe M, Ishikawa K, Tanaka D, Oshima Y, Kudo A, Uwatoko H, Shirai S, Takahashi-Iwata I, Matsushima M, Nishino I, Yabe I. Yamada K, et al. Clin Neurol Neurosurg. 2023 May;228:107670. doi: 10.1016/j.clineuro.2023.107670. Epub 2023 Mar 13. Clin Neurol Neurosurg. 2023. PMID: 36996668 Free article. No abstract available.
Neutral lipid-storage disease with myopathy and Jordan anomaly.
Zuccarino R, Anderson DM, Holman C, Feely S, Gutmann L, Gutmann L. Zuccarino R, et al. Neurology. 2020 Sep 29;95(13):599-600. doi: 10.1212/WNL.0000000000010585. Epub 2020 Aug 5. Neurology. 2020. PMID: 32759194 Free PMC article. No abstract available.
HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy.
Fu X, Yang X, Wang X, Jia B, Ma W, Xiong H, Fang F, Ren X, Lv J. Fu X, et al. Neuromuscul Disord. 2023 Sep;33(9):81-89. doi: 10.1016/j.nmd.2023.07.007. Epub 2023 Jul 30. Neuromuscul Disord. 2023. PMID: 37620213
Neutral lipid-storage disease with myopathy (NLSDM) is an autosomal recessive neuromuscular disorder caused by mutations in PNPLA2, and the average age at onset is 30 years. ...
Neutral lipid-storage disease with myopathy (NLSDM) is an autosomal recessive neuromuscular disord …
Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China.
Tan J, Yang H, Fan J, Fan Y, Xiao F. Tan J, et al. Clin Neurol Neurosurg. 2018 May;168:102-107. doi: 10.1016/j.clineuro.2018.03.001. Epub 2018 Mar 5. Clin Neurol Neurosurg. 2018. PMID: 29539587
OBJECTIVES: Neutral lipid storage disease with myopathy (NLSDM) is a rare metabolic myopathy occurring owing to mutations in the patatin like phospholipase domain containing 2 (PNPLA2) gene. ...
OBJECTIVES: Neutral lipid storage disease with myopathy (NLSDM) is a rare metabolic myopathy occur …
Neutral lipid storage disease with myopathy: clinicopathological and genetic features of nine Iranian patients.
Shahriyari H, Ramezani M, Nilipour Y, Okhovat AA, Kariminejad A, Aghaghazvini L, Fatehi F, Nafissi S. Shahriyari H, et al. Neuromuscul Disord. 2024 Feb;35:19-24. doi: 10.1016/j.nmd.2023.12.012. Epub 2023 Dec 21. Neuromuscul Disord. 2024. PMID: 38194732
The rare disorder known as Neutral Lipid Storage Disease with Myopathy presents with a variety of clinical manifestations, including myopathy, cardiac dysfunction, and other organ complications. ...
The rare disorder known as Neutral Lipid Storage Disease with Myopathy presents with a variety of …
Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly.
Avila-Smirnow D, Durán-Saavedra G, Ovalle-Besa P, Gejman-Enríquez R. Avila-Smirnow D, et al. Neuromuscul Disord. 2021 Jan;31(1):52-55. doi: 10.1016/j.nmd.2020.11.007. Epub 2020 Nov 19. Neuromuscul Disord. 2021. PMID: 33303358
Neutral lipid storage disease with myopathy is an ultra-rare, inherited autosomal recessive neuromuscular metabolic disorder caused by pathogenic variants in PNPLA2. ...This is the first report to describe an infant with mildly symptomati …
Neutral lipid storage disease with myopathy is an ultra-rare, inherited autosomal recessive neurom …
58 results