Hepatic storage of glycogen in Niemann-Pick disease type B

被引：1
|
作者：
Smith, WE
Kahler, SG
Frush, DP
Milov, DE
Gottfried, MR
Chen, YT
机构：
[1] Duke Univ, Med Ctr, Div Med Genet, Dept Pediat, Durham, NC 27710 USA
[2] Nemours Childrens Clin, Div Gastroenterol, Orlando, FL USA
[3] Univ Melbourne, Melbourne, Vic, Australia
[4] Duke Univ, Med Ctr, Dept Radiol, Durham, NC 27710 USA
[5] Duke Univ, Med Ctr, Dept Pathol, Durham, NC 27710 USA
[6] Mardoch Childrens Res Inst, Victorian Clin Genet Serv, Melbourne, Vic, Australia
来源：
JOURNAL OF PEDIATRICS | 2001年 / 138卷 / 06期
关键词：
D O I：
10.1067/mpd.2001.113103
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
We report 2 patients with confirmed Niemann-Pick disease, type B, with previous diagnoses of glycogen storage disease based on excessive glycogen on liver biopsy specimens. These cases emphasize the importance ofa complete evaluation, including biochemical confirmation, for patients with suspected metabolic storage diseases.
引用
收藏
页码：946 / 948
页数：3
相关论文
共 50 条
  • [31] Psychosocial Aspects of Patients With Niemann-Pick Disease, Type B
    Henderson, Shelly L.
    Packman, Wendy
    Packman, Seymour
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (11) : 2430 - 2436
  • [32] Niemann-Pick disease type A and type B mutation detection.
    Hantash, F
    Huang, S
    Huynh, N
    Sun, W
    Strom, C
    AMERICAN JOURNAL OF HUMAN GENETICS, 2002, 71 (04) : 384 - 384
  • [33] ULTRASONOGRAPHIC FEATURES OF TYPE-B NIEMANN-PICK DISEASE
    SANTOVENA, SP
    FERNANDEZRAMOS, J
    GONZALEZREIMERS, CE
    RODRIGUEZ, LE
    DIAZRUIDAVETS, MC
    COMAS, V
    EUROPEAN JOURNAL OF RADIOLOGY, 1993, 16 (03) : 215 - 216
  • [34] Niemann-Pick Disease Type B Presenting with Hepatosplenomegaly and Thrombocytopenia
    Uz, Ebru
    Cipil, Handan
    Turgut, Faruk H.
    Kaya, Arif
    Kargili, Ayse
    Bavbek, Nueket
    Ali, Akcay
    Ali, Kosar
    SOUTHERN MEDICAL JOURNAL, 2008, 101 (11) : 1188 - 1188
  • [35] The aurora sign in a patient with type B Niemann-Pick disease
    da Costa e Silva, Eduardo Just
    de Albuquerque, Silvio Cavalcanti
    de Queiroz Praxedes, Eduardo Luiz
    do Amaral, Fernando Jose
    PEDIATRIC RADIOLOGY, 2007, 37 (01) : 75 - 77
  • [36] Preimplantation genetic diagnosis for Niemann-Pick disease type B
    Hellani, A
    Schuchman, EH
    Al-Odaib, A
    Al Aqueel, A
    Jaroudi, K
    Ozand, P
    Coskun, S
    PRENATAL DIAGNOSIS, 2004, 24 (12) : 943 - 948
  • [37] Sphingosylphosphorylcholine in Niemann-Pick disease brain: Accumulation in type A but not in type B
    Rodriguez-Lafrasse, C
    Vanier, MT
    NEUROCHEMICAL RESEARCH, 1999, 24 (02) : 199 - 205
  • [38] Imaging features of type-B Niemann-Pick disease
    Muntaner, L
    Galmes, A
    Chabas, A
    Herrera, M
    EUROPEAN RADIOLOGY, 1997, 7 (03) : 361 - 364
  • [39] Niemann-Pick disease type A and type B: A report of two cases
    Zorlu, Pelin
    Ucar, Sit
    Yarali, Nese
    Demirceken, Fulya
    MARMARA MEDICAL JOURNAL, 2014, 27 (01): : 54 - 57
  • [40] OCULAR INVOLVEMENT IN NIEMANN-PICK DISEASE, TYPE-B
    LIPSON, M
    ODONNELL, J
    CALLAHAN, JW
    WENGER, D
    PACKMAN, S
    PEDIATRIC RESEARCH, 1985, 19 (04) : A315 - A315
12345