Lipoprotein Lipase Deficiency in an Infant

被引：0

作者：

Nampoothiri, Sheela ^{[1
]}

Radhakrishnan, Natasha ^{[2
]}

Schwentek, Andrea ^{[3
]}

Hoffmann, Michael Marcus ^{[1
]}

机构：

[1] Amrita Inst Med Sci & Res Ctr, Dept Pediat Genet, Cochin 682041, Kerala, India

[2] Amrita Inst Med Sci & Res Ctr, Dept Ophthalmol, Cochin 682041, Kerala, India

[3] Univ Med Ctr, Div Clin Chem, D-79106 Freiburg, Germany

来源：

INDIAN PEDIATRICS | 2011年 / 48卷 / 10期

关键词：

Hypertriglyceridemia; Lipoprotein lipase deficiency; Lipemia retinalis; Medium chain triglyceride oil; Mutation analysis; SEVERE HYPERTRIGLYCERIDEMIA; FAMILIAL CHYLOMICRONEMIA; MUTATIONS;

D O I：

暂无

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Patients with isolated hypertriglyceridemia usually present with recurrent abdominal pain, pancreatitis, eruptive xanthomas, lipemia retinalis and hepatosplenomegaly. We describe the diagnosis and treatment of an infant with severe hypertriglyceridemia. The child was found to be heterozygous for two novel mutations in the lipoprotein lipase gene.

引用

页码：805 / 806

页数：2

共 50 条

[21] Lipoprotein Lipase Deficiency—Rare or Common?
Valerie Evans
John J.P. Kastelein
Cardiovascular Drugs and Therapy, 2002, 16 : 283 - 287
[22] Siblings with hepatosplenomegaly and lipoprotein lipase deficiency
Schneider, JG
Schaefer, S
Lettgen, B
Keiper, T
Nawroth, PP
Dugi, KA
LANCET, 2002, 360 (9340): : 1150 - 1150
[23] Lipoprotein lipase deficiency - Rare or common?
Evans, V
Kastelein, JJP
CARDIOVASCULAR DRUGS AND THERAPY, 2002, 16 (04) : 283 - 287
[24] Linkage of low-density lipoprotein size to the lipoprotein lipase gene in heterozygous lipoprotein lipase deficiency
Hokanson, JE
Brunzell, JD
Jarvik, GP
Wijsman, EM
Austin, MA
AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 64 (02) : 608 - 618
[25] High-density lipoprotein subpopulation profiles in lipoprotein lipase and hepatic lipase deficiency
Tani, Mariko
Horvath, Katalin V.
Lamarche, Benoit
Couture, Patrick
Burnett, John R.
Schaefer, Ernst J.
Asztalos, Bela F.
ATHEROSCLEROSIS, 2016, 253 : 7 - 14
[26] EXPRESSION OF LIPOPROTEIN-LIPASE GENE IN COMBINED LIPASE DEFICIENCY
OKA, K
YUAN, JG
SENDA, M
MASIBAY, AS
OASBA, PK
MASUNO, H
SCOW, RO
PATERNITI, JR
BROWN, WV
BIOCHIMICA ET BIOPHYSICA ACTA, 1989, 1008 (03) : 351 - 354
[27] MOLECULAR CHARACTERIZATION OF LIPOPROTEIN-LIPASE DEFICIENCY IN THE CAT - AN ANIMAL-MODEL FOR HUMAN LIPOPROTEIN-LIPASE DEFICIENCY
GINZINGER, DG
MA, YH
LIU, MS
HARVEYCLARKE, C
BRUNZELL, JD
HAYDEN, MR
CIRCULATION, 1993, 88 (04) : 268 - 268
[28] Gene Therapy (Glybera®) for Lipoprotein Lipase Deficiency
van Deventer, Sander
HUMAN GENE THERAPY, 2010, 21 (04) : 491 - 491
[29] Xanthoma of bone associated with lipoprotein lipase deficiency
Torigoe, Tomoaki
Terakado, Atsuhiko
Suehara, Yoshiyuki
Kurosawa, Hisashi
SKELETAL RADIOLOGY, 2008, 37 (12) : 1153 - 1156
[30] TRANSIENT LIPOPROTEIN-LIPASE DEFICIENCY WITH HYPERCHYLOMICRONEMIA
GOLDBERG, IJ
PATERNITI, JR
FRANKLIN, BH
GINSBERG, HN
GINSBERGFELLNER, F
BROWN, WV
AMERICAN JOURNAL OF THE MEDICAL SCIENCES, 1983, 286 (02): : 28 - 31

← 1 2 3 4 5 →