相似文献
1
Improved cytochemical method for detecting Jordans' bodies in neutral lipid storage diseases.
J Clin Pathol. 2007 Aug;60(8):956-8. doi: 10.1136/jcp.2006.044917. Epub 2007 Feb 9.
2
Jordans' Anomaly as a Red Flag for Neutral Lipid Storage Diseases.
Fetal Pediatr Pathol. 2022 Jun;41(3):526-528. doi: 10.1080/15513815.2020.1831663. Epub 2020 Oct 14.
3
Jordans' anomaly in a new neutral lipid storage disease.
Am J Hematol. 2009 Apr;84(4):254-5. doi: 10.1002/ajh.21186.
4
[A case of Jordans' anomaly].
Rinsho Ketsueki. 1993 Feb;34(2):218-23.
5
Basic utility of Pentra series automated hematology analyzer for screening of Jordans' anomaly.
Int J Lab Hematol. 2017 Feb;39(1):e1-e3. doi: 10.1111/ijlh.12570. Epub 2016 Aug 30.
6
Detection of Jordans' anomaly using compact-type automated hematology analyzer.
Int J Hematol. 2019 Aug;110(2):129-130. doi: 10.1007/s12185-019-02689-9. Epub 2019 Jun 10.
7
Specific myocardial disease caused by multisystemic triglyceride storage in Jordans' anomaly.
Am Heart J. 1993 Oct;126(4):995-7. doi: 10.1016/0002-8703(93)90719-p.
8
Specific cardiomyopathy caused by multisystemic lipid storage in Jordans' anomaly.
Intern Med. 2003 Jul;42(7):587-90. doi: 10.2169/internalmedicine.42.587.
9
Neutral lipid storage disease with unusual presentation: report of three cases.
Pediatr Dermatol. 2012 May-Jun;29(3):341-4. doi: 10.1111/j.1525-1470.2011.01429.x. Epub 2011 May 16.
10
[A case of Jordans' anomaly].
Rinsho Ketsueki. 1994 Dec;35(12):1366-70.
引用本文的文献
1
Clinical and biochemical footprints of inherited metabolic disorders: X. Metabolic myopathies.
Mol Genet Metab. 2022 Sep-Oct;137(1-2):213-222. doi: 10.1016/j.ymgme.2022.09.004. Epub 2022 Sep 18.
2
Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome.
Eur J Transl Myol. 2021 May 12;31(2):9796. doi: 10.4081/ejtm.2021.9796.
3
Late-Onset Lipid Storage Myopathy with Fatal Hepatosteatosis.
Eur J Case Rep Intern Med. 2020 Oct 7;7(12):001980. doi: 10.12890/2020_001980. eCollection 2020.
4
Vacuolated Leukocytes in the Peripheral Blood Smear of a Child with Chanarin-Dorfman Syndrome.
Turk J Haematol. 2020 Nov 19;37(4):299-300. doi: 10.4274/tjh.galenos.2020.2020.0242. Epub 2020 Jun 10.
5
LncRNA Gm12664-001 ameliorates nonalcoholic fatty liver through modulating miR-295-5p and CAV1 expression.
Nutr Metab (Lond). 2020 Feb 4;17:13. doi: 10.1186/s12986-020-0430-z. eCollection 2020.
6
A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings.
Lipids Health Dis. 2019 Dec 28;18(1):232. doi: 10.1186/s12944-019-1181-6.
7
Metabolic lipid muscle disorders: biomarkers and treatment.
Ther Adv Neurol Disord. 2019 Apr 22;12:1756286419843359. doi: 10.1177/1756286419843359. eCollection 2019.
8
Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function.
Cells. 2019 Feb 21;8(2):187. doi: 10.3390/cells8020187.
9
Long-term outcomes of a patient with late-onset multiple acyl-CoA dehydrogenase deficiency caused by novel mutations in ETFDH: A case report.
Medicine (Baltimore). 2018 Nov;97(48):e13153. doi: 10.1097/MD.0000000000013153.
10
Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents.
BMC Med Genet. 2018 May 29;19(1):88. doi: 10.1186/s12881-018-0610-0.
本文引用的文献
1
A proposed model of fat packaging by exchangeable lipid droplet proteins.
FEBS Lett. 2006 Oct 9;580(23):5484-91. doi: 10.1016/j.febslet.2006.08.040. Epub 2006 Sep 1.
2
Lipid droplets: a unified view of a dynamic organelle.
Nat Rev Mol Cell Biol. 2006 May;7(5):373-8. doi: 10.1038/nrm1912.
3
ATGL has a key role in lipid droplet/adiposome degradation in mammalian cells.
EMBO Rep. 2006 Jan;7(1):106-13. doi: 10.1038/sj.embor.7400559.
4
Redistribution of macrophage cholesteryl ester hydrolase from cytoplasm to lipid droplets upon lipid loading.
J Lipid Res. 2005 Oct;46(10):2114-21. doi: 10.1194/jlr.M500207-JLR200. Epub 2005 Jul 16.
5
Role of PAT proteins in lipid metabolism.
Biochimie. 2005 Jan;87(1):45-9. doi: 10.1016/j.biochi.2004.12.010.
6
The use of a fluorescent dye, Nile red, to evaluate the lipid content of single mammalian oocytes.
Theriogenology. 2005 Mar 1;63(4):1181-94. doi: 10.1016/j.theriogenology.2004.06.006.
7
Hydrophobic sequences target and anchor perilipin A to lipid droplets.
J Lipid Res. 2004 Nov;45(11):1983-91. doi: 10.1194/jlr.M400291-JLR200. Epub 2004 Sep 1.
8
Lipoptosis: tumor-specific cell death by antibody-induced intracellular lipid accumulation.
Cancer Res. 2004 Jun 1;64(11):3900-6. doi: 10.1158/0008-5472.CAN-03-3149.
9
The familial occurrence of fat containing vacuoles in the leukocytes diagnosed in two brothers suffering from dystrophia musculorum progressiva (ERB.).
Acta Med Scand. 1953;145(6):419-23. doi: 10.1111/j.0954-6820.1953.tb07038.x.
10
Deformation of lipid droplets in fixed samples.
Histochem Cell Biol. 2002 Nov;118(5):423-8. doi: 10.1007/s00418-002-0462-7. Epub 2002 Oct 2.
Zotero 插件