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72 results

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The effect of computerised decision support alerts tailored to intensive care on the administration of high-risk drug combinations, and their monitoring: a cluster randomised stepped-wedge trial.
Bakker T, Klopotowska JE, Dongelmans DA, Eslami S, Vermeijden WJ, Hendriks S, Ten Cate J, Karakus A, Purmer IM, van Bree SHW, Spronk PE, Hoeksema M, de Jonge E, de Keizer NF, Abu-Hanna A; SIMPLIFY study group. Bakker T, et al. Lancet. 2024 Feb 3;403(10425):439-449. doi: 10.1016/S0140-6736(23)02465-0. Epub 2024 Jan 20. Lancet. 2024. PMID: 38262430 Clinical Trial.
Lipid storage myopathies: Current treatments and future directions.
Vasiljevski ER, Summers MA, Little DG, Schindeler A. Vasiljevski ER, et al. Prog Lipid Res. 2018 Oct;72:1-17. doi: 10.1016/j.plipres.2018.08.001. Epub 2018 Aug 9. Prog Lipid Res. 2018. PMID: 30099045 Review.
Lipid storage myopathies (LSMs) are a heterogeneous group of genetic disorders that present with abnormal lipid storage in multiple body organs, typically muscle. ...This review discusses the clinical features and management practices of PCD as well as Neutral Li …
Lipid storage myopathies (LSMs) are a heterogeneous group of genetic disorders that present with abnormal lipid storage in multiple b …
Chanarin-Dorfman syndrome.
Kalyon S, Gökden Y, Demirel N, Erden B, Türkyılmaz A. Kalyon S, et al. Turk J Gastroenterol. 2019 Jan;30(1):105-108. doi: 10.5152/tjg.2018.18014. Turk J Gastroenterol. 2019. PMID: 30457558 Free PMC article.
Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, characterized by the accumulation of lipid vacuoles in neutrophils, and was first described by Dorfman in 1974. ...We emphasize that if a patient has unusual fi …
Chanarin Dorfman syndrome is a multisystem, very rare, autosomal recessive lipid storage disorder, characterized by the …
Defective targeting of PNPLA1 to lipid droplets causes ichthyosis in ABHD5-syndromic epidermal differentiation disorder.
Schratter M, Holubek D, Koeffler L, Züllig T, Eichmann TO, Wolinski H, Oberer M, Lass A, Radner FPW. Schratter M, et al. J Lipid Res. 2025 Sep;66(9):100875. doi: 10.1016/j.jlr.2025.100875. Epub 2025 Aug 14. J Lipid Res. 2025. PMID: 40818613 Free PMC article.
ABHD5-syndromic epidermal differentiation disorder (ABHD5-sEDD; also known as Chanarin-Dorfman syndrome) is a rare autosomal recessive disorder caused by mutations in the alpha/beta-hydrolase domain-containing 5 (ABHD5) gene, leading to systemic accumulation …
ABHD5-syndromic epidermal differentiation disorder (ABHD5-sEDD; also known as Chanarin-Dorfman syndrome) is a rare auto …
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. ...We describe the clinical, histopathologi …
The rare disorder known as Neutral Lipid Storage Disease with Myopathy presents with a variety of clinica …
Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenues.
Angel M, Kleinberg Y, Newaz T, Li V, Zaid R, Oved K, Dorot O, Pichinuk E, Avitan-Hersh E, Saada A, Weiss K, Zaremberg V, Tal G, Zalckvar E. Angel M, et al. Orphanet J Rare Dis. 2025 Apr 24;20(1):195. doi: 10.1186/s13023-025-03711-6. Orphanet J Rare Dis. 2025. PMID: 40275410 Free PMC article.
BACKGROUND: Chanarin-Dorfman syndrome (CDS) is a multisystemic autosomal recessive rare disorder. CDS is caused by variants in the abhydrolase domain containing 5 (ABHD5) encoding gene (CGI-58), which ultimately leads to excessive lipid storage, and therefore …
BACKGROUND: Chanarin-Dorfman syndrome (CDS) is a multisystemic autosomal recessive rare disorder. CDS is caused by vari …
The "discovery" of lipid droplets: A brief history of organelles hidden in plain sight.
Coleman RA. Coleman RA. Biochim Biophys Acta Mol Cell Biol Lipids. 2020 Sep;1865(9):158762. doi: 10.1016/j.bbalip.2020.158762. Epub 2020 Jul 1. Biochim Biophys Acta Mol Cell Biol Lipids. 2020. PMID: 32622088 Review.
Insights included the recognition that obesity underlies major chronic diseases, that appetite is hormonally controlled, that hepatic steatosis is not a benign finding, and that diabetes might fundamentally be a disorder of lipid metabolism. ...
Insights included the recognition that obesity underlies major chronic diseases, that appetite is hormonally controlled, that hepatic …
Jordans' Anomaly as a Red Flag for Neutral Lipid Storage Diseases.
Safavi M, Vasei M, Motamed F. Safavi M, et al. Fetal Pediatr Pathol. 2022 Jun;41(3):526-528. doi: 10.1080/15513815.2020.1831663. Epub 2020 Oct 14. Fetal Pediatr Pathol. 2022. PMID: 33966594
Background: Jordans' anomaly is characterized by lipid vacuoles in granulocytes which are observed in neutral lipid storage diseases like Chanarin-Dorfman syndrome. Case report: This six-year-old boy had skin ichthyosis, elevated liver enzymes, and pro …
Background: Jordans' anomaly is characterized by lipid vacuoles in granulocytes which are observed in neutral lipid storage diseases …
72 results