PEDIATRIC PATIENT WITH HETEROZYGOUS FAMILIAL HYPOBETALIPOPROTEINEMIA DUE TO A NOVEL APOB VARIANT

被引:0
|
作者
Molk, N. [1 ]
Bitenc, M. [1 ]
Urlep, D. [2 ,3 ]
Tansek, M. Zerjav [3 ,4 ]
Bertok, S. [4 ]
Podkrajsek, K. Trebusak [5 ]
Sustar, U. [6 ]
Kovac, J. [7 ]
Battelino, T. [6 ]
Debeljak, M. [4 ,8 ]
Groselj, U. [9 ]
机构
[1] Univ Med Ctr Ljubljana, Univ Childrens Hosp, Dept Endocrinol Diabet & Metab Dis, Ljubljana, Slovenia
[2] Univ Childrens Hosp Ljubljana, Dept Gastroenterol Hepatol & Nutr, Ljubljana, Slovenia
[3] Univ Ljubljana, Fac Med, Ljubljana, Slovenia
[4] Univ Med Ctr Univ Childrens Hosp, Dept Pediat Endocrinol Diabet & Metab, Ljubljana, Slovenia
[5] UMC Ljubljana, Clin Inst Special Lab Diagnost, Ljubljana, Slovenia
[6] UMC Ljubljana, Dept Endocrinol Diabet & Metab Disorders, Ljubljana, Slovenia
[7] UMC Ljubljana, Clin Inst Special Lab Diagnost, Ljubljana, Slovenia
[8] UMC Ljubljana, Clin Inst Special Lab Diagnost, Ljubljana, Slovenia
[9] Univ Ljubljana, Fac Med, Ljubljana, Slovenia
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
P367
引用
收藏
页码:S119 / S120
页数:2
相关论文
共 50 条
  • [1] Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review
    Molk, Neza
    Bitenc, Mojca
    Urlep, Darja
    Tansek, Mojca Zerjav
    Bertok, Sara
    Podkrajsek, Katarina Trebusak
    Sustar, Ursa
    Kovac, Jernej
    Battelino, Tadej
    Debeljak, Marusa
    Groselj, Urh
    FRONTIERS IN MEDICINE, 2023, 10
  • [2] Acanthocytosis in a patient with homozygous familial hypobetalipoproteinemia due to a novel APOB splice site mutation
    Hegele, RA
    Miskie, BA
    CLINICAL GENETICS, 2002, 61 (02) : 101 - 103
  • [3] Novel APOB mutation in familial hypobetalipoproteinemia
    Domenech, M.
    Llano-Rivas, Isabel
    Arroyo, Vicente
    Ortega, Emilio
    JOURNAL OF CLINICAL LIPIDOLOGY, 2022, 16 (01) : 28 - 32
  • [4] Novel APOB nonsense variant related to familial hypobetalipoproteinemia and hepatic steatosis: A case report and review
    de Vera-Gomez, Pablo Rodriguez
    del Pino-Bellido, Pilar
    Garcia-Gonzalez, Juan Jesus
    Sanchez-Jimenez, Flora
    Oliva-Rodriguez, Rosario
    Arrobas-Velilla, Teresa
    Martinez-Brocca, Maria Asuncion
    JOURNAL OF CLINICAL LIPIDOLOGY, 2022, 16 (05) : 601 - 607
  • [5] Novel mutations of APOB cause ApoB truncations undetectable in plasma and familial Hypobetalipoproteinemia
    Yue, P
    Yuan, B
    Gerhard, DS
    Neuman, RJ
    Isley, WL
    Harris, WS
    Schonfeld, G
    HUMAN MUTATION, 2002, 20 (02) : 110 - 116
  • [6] DETECTION OF A NEW MUTATION IN THE APOB GENE: A CASE REPORT OF A PEDIATRIC PATIENT WITH FAMILIAL HYPOBETALIPOPROTEINEMIA (FHBL)
    Koniari, E.
    Skouma, A.
    Zarkada, I.
    Dragoti, A.
    Constantoulakis, P.
    Samara, S.
    Chrousos, G.
    ATHEROSCLEROSIS, 2020, 315 : E210 - E210
  • [7] Decreased production rates of VLDL triglycerides and ApoB-100 in subjects heterozygous for familial hypobetalipoproteinemia
    Elias, N
    Patterson, BW
    Schonfeld, G
    ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, 1999, 19 (11) : 2714 - 2721
  • [8] LEU351ARG IN APOB, A NEW MISSENSE VARIANT CAUSING FAMILIAL HYPOBETALIPOPROTEINEMIA
    Vanhoye, X.
    Janin, A.
    Caillaud, A.
    Rimbert, A.
    Venet, F.
    Gosset, M.
    Dijk, W.
    Marmontel, O.
    Nony, S.
    Chatelain, C.
    Lindenbaum, P.
    Cariou, B.
    Moulin, P.
    Di Filippo, M.
    ATHEROSCLEROSIS, 2022, 355 : E235 - E235
  • [9] Identification of a novel point mutation in APOB gene in a patient with hypobetalipoproteinemia
    Park, So Yun
    Kim, Heung Sik
    Lee, Donghyun
    Kang, Seokjin
    HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 488 - 488
  • [10] FAMILIAL HYPOBETALIPOPROTEINEMIA DUE TO MISSENSE MUTATIONS IN APOB WHICH AFFECT HEPATIC SECRETION OF APOB-CONTAINING LIPOPROTEINS
    Zhong, S.
    Magnolo, L.
    Yao, Z.
    Tarugi, P.
    ATHEROSCLEROSIS SUPPLEMENTS, 2009, 10 (02)