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Page 1
Clinical profile, genetic spectrum and therapy evaluation of 19 Chinese pediatric patients with lipoprotein lipase deficiency.
Xia Y, Zheng W, Du T, Gong Z, Liang L, Wang R, Yang Y, Zhang K, Lu D, Chen X, Sun Y, Sun Y, Xiao B, Qiu W. Xia Y, et al. J Clin Lipidol. 2023 Nov-Dec;17(6):808-817. doi: 10.1016/j.jacl.2023.09.012. Epub 2023 Sep 27. J Clin Lipidol. 2023. PMID: 37858495
RESULTS: Nine novel LPL variants were identified in 19 LPL-FCS pediatric patients. At baseline, eruptive xanthomas occurred in 3/19 patients, acute pancreatitis in 2/19, splenomegaly in 6/19 and hepatomegaly in 3/19. ...TG levels and LCT intake were positively corre …
RESULTS: Nine novel LPL variants were identified in 19 LPL-FCS pediatric patients. At baseline, eruptive xanthomas occurred in …
Prevalence of cutaneous manifestations of diabetes mellitus.
Ahmed K, Muhammad Z, Qayum I. Ahmed K, et al. J Ayub Med Coll Abbottabad. 2009 Apr-Jun;21(2):76-9. J Ayub Med Coll Abbottabad. 2009. PMID: 20524475
Seventy-six percent of patients had cutaneous manifestations. The skin manifestations observed were: skin infections 30.9%, foot gangrene and ulcers 12.9%, pruritus 7.1%, vitiligo 5.7%, yellow skin 4.2%, diabetic dermopathy 4.2%, skin tags 3.7%, acanthosis nigricans 2.9%, …
Seventy-six percent of patients had cutaneous manifestations. The skin manifestations observed were: skin infections 30.9%, foot gang …
Autoimmune severe hypertriglyceridemia induced by anti-apolipoprotein C-II antibody.
Yamamoto H, Tanaka M, Yoshiga S, Funahashi T, Shimomura I, Kihara S. Yamamoto H, et al. J Clin Endocrinol Metab. 2014 May;99(5):1525-30. doi: 10.1210/jc.2013-3619. Epub 2014 Feb 25. J Clin Endocrinol Metab. 2014. PMID: 24606081
SUBJECT AND METHODS: A 29-year-old Japanese woman presented with severe persistent hypertriglyceridemia since the age of 20 years. The past history was negative for acute pancreatitis, eruptive xanthomas, or lipemia retinalis. LPL mass and activities were normal. Pl …
SUBJECT AND METHODS: A 29-year-old Japanese woman presented with severe persistent hypertriglyceridemia since the age of 20 years. The past …
Retroviral-mediated gene transfer and expression of human lipoprotein lipase in somatic cells.
Lewis ME, Forsythe IJ, Marth JD, Brunzell JD, Hayden MR, Humphries RK. Lewis ME, et al. Hum Gene Ther. 1995 Jul;6(7):853-63. doi: 10.1089/hum.1995.6.7-853. Hum Gene Ther. 1995. PMID: 7578404
Humans with complete defects in LPL activity present from infancy with failure to thrive, eruptive xanthomas, pancreatitis, and lactescent plasma. In addition, heterozygous carriers for this disorder may be at increased risk for the development of coronary artery di …
Humans with complete defects in LPL activity present from infancy with failure to thrive, eruptive xanthomas, pancreatitis, an …
Lipodystrophy of the extremities. A dominantly inherited syndrome associated with lipatrophic diabetes.
Köbberling J, Willms B, Kattermann R, Creutzfeldt W. Köbberling J, et al. Humangenetik. 1975 Sep 10;29(2):111-20. doi: 10.1007/BF00430347. Humangenetik. 1975. PMID: 170190
A female patient with the following symptoms has been observed: complete absence of subcutaneous fat on the arms and legs, well developed adipose tissue on the trunk and face, severe hyperlipidemia, eruptive xanthomas, insulin resistant diabetes mellitus with …
A female patient with the following symptoms has been observed: complete absence of subcutaneous fat on the arms and legs, well devel …
Eruptive xanthomas associated with olanzapine use.
Chang HY, Ridky TW, Kimball AB, Hughes E, Oro AE. Chang HY, et al. Arch Dermatol. 2003 Aug;139(8):1045-8. doi: 10.1001/archderm.139.8.1045. Arch Dermatol. 2003. PMID: 12925394
Mild hyperglycemia and hypertriglyceridemia have been documented from the use of these medications, but the range of effects on metabolism and the effects on skin are poorly characterized. OBSERVETION: We describe 3 patients who developed eruptive xanthomas, …
Mild hyperglycemia and hypertriglyceridemia have been documented from the use of these medications, but the range of effects on metabolism a …
Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients.
Baggio G, Manzato E, Gabelli C, Fellin R, Martini S, Enzi GB, Verlato F, Baiocchi MR, Sprecher DL, Kashyap ML, et al. Baggio G, et al. J Clin Invest. 1986 Feb;77(2):520-7. doi: 10.1172/JCI112332. J Clin Invest. 1986. PMID: 3944267 Free PMC article.
The male patient had a history of recurrent bouts of abdominal pain often accompanied by eruptive xanthomas. The female subject, identified by family screening, was asymptomatic. ...LDL were heterogeneous with the major subfraction of a higher hydrated density than …
The male patient had a history of recurrent bouts of abdominal pain often accompanied by eruptive xanthomas. The female subjec …
Hypertriglyceridaemia and low plasma HDL in a patient with apolipoprotein A-V deficiency due to a novel mutation in the APOA5 gene.
Priore Oliva C, Carubbi F, Schaap FG, Bertolini S, Calandra S. Priore Oliva C, et al. J Intern Med. 2008 Apr;263(4):450-8. doi: 10.1111/j.1365-2796.2007.01912.x. J Intern Med. 2008. PMID: 18324930 Free article.
In addition, hypertriglyceridaemic (HTG) patients have been identified who carried rare nonsense mutations in the APOA5 gene (Q139X and Q148X), predicted to result in apo A-V deficiency. In this study we report a 17-year-old male with high TG and low high density lipoprote …
In addition, hypertriglyceridaemic (HTG) patients have been identified who carried rare nonsense mutations in the APOA5 gene (Q139X and Q148 …
A phenocopy of type III dysbetalipoproteinemia occurring in a candidate family for a putative apo E receptor defect.
Davignon J, Dallongeville J, Roederer G, Roy M, Fruchart JC, Kessling AM, Bouthillier D, Lussier-Cacan S. Davignon J, et al. Ann Med. 1991 Apr;23(2):161-7. doi: 10.3109/07853899109148042. Ann Med. 1991. PMID: 1648930
The clearance of plasma triglycerides after a fat load was impaired. Tubero-eruptive xanthomas, arcus corneae and manifestations of atherosclerosis were present in some individuals. ...In spite of high apo E and borderline high apo CIII plasma levels, levels of the …
The clearance of plasma triglycerides after a fat load was impaired. Tubero-eruptive xanthomas, arcus corneae and manifestatio …
Advanced exudative retinopathy with neovascular glaucoma as the clinical presentation of diabetes mellitus and severe combined hyperlipidemia: a case report.
Sinawat S, Thanapaisal S, Sinawat S. Sinawat S, et al. J Med Assoc Thai. 2014 Oct;97 Suppl 10:S110-4. J Med Assoc Thai. 2014. PMID: 25816546
Severe attenuated retinal arteries and enlarged cupping with disc pallor were observed in the left eye. Generalized eruptive xanthomas were found on the back and extremities. ...
Severe attenuated retinal arteries and enlarged cupping with disc pallor were observed in the left eye. Generalized eruptive …