Literature DB >> 20095985

Pink-creamy whole blood in a 3-month-old infant with a homozygous deletion in the lipoprotein lipase gene.

H J Avis1, H J Scheffer, J J P Kastelein, G M Dallinga-Thie, F A Wijburg.   

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Year:  2010        PMID: 20095985     DOI: 10.1111/j.1399-0004.2009.01369.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


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  5 in total

1.  Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.

Authors:  R P Surendran; M E Visser; S Heemelaar; J Wang; J Peter; J C Defesche; J A Kuivenhoven; M Hosseini; M Péterfy; J J P Kastelein; C T Johansen; R A Hegele; E S G Stroes; G M Dallinga-Thie
Journal:  J Intern Med       Date:  2012-02-13       Impact factor: 8.989

2.  Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion.

Authors:  Lorenza Pugni; Enrica Riva; Carlo Pietrasanta; Claudio Rabacchi; Stefano Bertolini; Cristina Pederiva; Fabio Mosca; Sebastiano Calandra
Journal:  JIMD Rep       Date:  2013-10-20

3.  Clinical, biochemical and molecular analysis of two infants with familial chylomicronemia syndrome.

Authors:  Yonghong Zhang; Jing Zhou; Wenxin Zheng; Zhangzhang Lan; Zhiwei Huang; Qingnan Yang; Chengbo Liu; Rui Gao; Yongjun Zhang
Journal:  Lipids Health Dis       Date:  2016-05-06       Impact factor: 3.876

4.  Lipemia retinalis in a 27 day old neonate: A case report.

Authors:  Noopur DeokinandanNayak Shinkre; Ugam P S Usgaonkar
Journal:  Indian J Ophthalmol       Date:  2019-06       Impact factor: 1.848

5.  Case Report: Successful Management of a 29-Day-Old Infant With Severe Hyperlipidemia From a Novel Homozygous Variant of GPIHBP1 Gene.

Authors:  Shu Liu; Zhiqing Wang; Xianhua Zheng; Ye Zhang; Sisi Wei; Haimei OuYang; Jinqun Liang; Nuan Chen; Weihong Zeng; Jianhui Jiang
Journal:  Front Pediatr       Date:  2022-03-10       Impact factor: 3.418

  5 in total

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