Rare Phenotypic Manifestations of MELAS

被引：4
|
作者：
Finsterer, Josef [1 ]
机构：
[1] Messerli Inst, Klin Landstr, Postfach 20, A-1180 Vienna, Austria
来源：
YONSEI MEDICAL JOURNAL | 2020年 / 61卷 / 10期
关键词：
THAN G MUTATION; LACTIC-ACIDOSIS; GREATER-THAN; MITOCHONDRIAL ENCEPHALOMYOPATHY; CHILD;
D O I：
10.3349/ymj.2020.61.10.904
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：904 / 906
页数：3
相关论文
共 50 条
  • [11] Paralytic ileus in MELAS with phenotypic features of MNGIE
    Chang, TM
    Chi, CS
    Tsai, CR
    Lee, HF
    Li, MC
    [J]. PEDIATRIC NEUROLOGY, 2004, 31 (05) : 374 - 377
  • [12] MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options
    El-Hattab, Ayman W.
    Adesina, Adekunle M.
    Jones, Jeremy
    Scaglia, Fernando
    [J]. MOLECULAR GENETICS AND METABOLISM, 2015, 116 (1-2) : 4 - 12
  • [13] Looking for infra clinical manifestations of MELAS in MIDD syndrome
    Fromont, Isabelle
    Paquis-Flucklinger, Veronique
    Valero, Rene
    Felician, Olivier
    Nicoli, Francois
    Lefur, Yann
    Cozzone, Patrick
    Vialettes, Bernard
    [J]. DIABETES, 2008, 57 : A329 - A329
  • [14] PHENOTYPIC MANIFESTATIONS OF BRANCHIOOTORENAL SYNDROME
    CHEN, A
    FRANCIS, M
    NI, L
    CREMERS, CWRJ
    KIMBERLING, WJ
    SATO, Y
    PHELPS, PD
    BELLMAN, SC
    WAGNER, MJ
    PEMBREY, M
    SMITH, RJH
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1995, 58 (04): : 365 - 370
  • [15] MELAS - A Rare Cause of Recurrent Cerebral Ischemia
    Sieke, Alexander
    El Mountassir, A.
    Wessel, Karl
    [J]. KLINISCHE NEUROPHYSIOLOGIE, 2017, 48 (03) : 168 - 170
  • [16] RARE MANIFESTATIONS OF SARCOIDOSIS
    MCPHERSON, JG
    YEOH, CB
    [J]. JOURNAL OF THE NATIONAL MEDICAL ASSOCIATION, 1993, 85 (11) : 869 - 872
  • [17] Rare MR-Diagnosis of the MELAS-Syndrome
    Niehues, S. M.
    Radtke, A.
    Bohner, G.
    Lemke, A. -J.
    [J]. ROFO-FORTSCHRITTE AUF DEM GEBIET DER RONTGENSTRAHLEN UND DER BILDGEBENDEN VERFAHREN, 2008, 180 (04): : 346 - 348
  • [18] PHENOTYPIC MANIFESTATIONS OF ATAXIA-TELANGIECTASIA
    HOAR, DI
    [J]. LANCET, 1975, 2 (7943): : 1048 - 1048
  • [19] Genetic background and phenotypic heterogeneity of MELAS and maternally inherited diabetes and deafness
    Finsterer, Josef
    Frank, Marlies
    Mishra, Anushree
    [J]. INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY, 2015, 8 (11): : 15439 - 15441
  • [20] Variable primary phenotypic manifestations in a rare familial form of Wolff-Parkinson-White syndrome and hypertrophic cardiomyopathy
    Mullertz, Katrine M.
    Jensen, Henrik K.
    [J]. EUROPACE, 2016, 18 (03): : 397 - 397
12345