Acetazolamide for Severe Apnea in Pitt-Hopkins Syndrome

被引：14
|
作者：
Verhulst, Stijn L. [1 ]
De Dooy, J. [1 ]
Ramet, J. [1 ]
Bockaert, N. [2 ]
Van Coster, R. [2 ]
Ceulemans, B. [3 ]
De Backer, W. [4 ]
机构：
[1] Univ Antwerp Hosp, Dept Pediat, B-2650 Edegem, Belgium
[2] Ghent Univ Hosp, Dept Pediat Neurol, Ghent, Belgium
[3] Univ Antwerp Hosp, Dept Pediat Neurol, B-2650 Edegem, Belgium
[4] Univ Antwerp Hosp, Dept Resp Med, B-2650 Edegem, Belgium
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2012年 / 158A卷 / 04期
关键词：
CARBONIC-ANHYDRASE INHIBITION; CENTRAL SLEEP-APNEA; RETT-SYNDROME; AUTONOMIC DYSFUNCTION; POSTMORTEM BRAIN; BIOGENIC-AMINES; MICE; TCF4; DEFICIENCY; EXPRESSION;
D O I：
10.1002/ajmg.a.35247
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：932 / 934
页数：3
相关论文
共 50 条
  • [1] Successful use of acetazolamide for central apnea in a child with Pitt-Hopkins syndrome
    Gaffney, Claire
    McNally, Paul
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (06) : 1423 - 1423
  • [2] Pitt-Hopkins Syndrome
    Peippo, M.
    Ignatius, J.
    MOLECULAR SYNDROMOLOGY, 2011, 2 (3-5) : 171 - 180
  • [3] Hyperventilation and the Pitt-Hopkins syndrome
    Ouvrier, Robert
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2008, 50 (07): : 481 - 481
  • [4] Delination of the Pitt-Hopkins syndrome
    Amiel, Jeanne
    JOURNAL OF MEDICAL GENETICS, 2011, 48 : S27 - S27
  • [5] Epilepsy and electroencephalography in Pitt-Hopkins syndrome
    Bone, Megan
    Goodspeed, Kimberly
    Sirsi, Deepa
    JOURNAL OF TRANSLATIONAL GENETICS AND GENOMICS, 2022, 6 (02) : 169 - 178
  • [6] Pitt-Hopkins syndrome - clinical report
    Sousa, Sergio
    Cabral, A.
    Zweier, C.
    Venancio, M.
    Rauch, A.
    Saraiva, J.
    JOURNAL OF MEDICAL GENETICS, 2007, 44 : S30 - S30
  • [7] Pitt-Hopkins Syndrome: A Unique Case Study
    Tan, A.
    Goodspeed, K.
    Bordes, Edgar V.
    ARCHIVES OF CLINICAL NEUROPSYCHOLOGY, 2017, 32 (06) : 687 - 687
  • [8] Pitt-Hopkins Syndrome: A Unique Case Study
    Tan, Alexander
    Goodspeed, Kimberly
    Edgar, Veronica Bordes
    JOURNAL OF THE INTERNATIONAL NEUROPSYCHOLOGICAL SOCIETY, 2018, 24 (09) : 995 - 1002
  • [9] Fatal gastrointestinal complications in Pitt-Hopkins syndrome
    Koppen, Ilan J. N.
    Menke, Leonie A. A.
    Westra, Wytske M. M.
    Struik, Femke
    Mesman, Simone
    Van Wijk, Michiel P. P.
    Huisman, Sylvia A. A.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2023, 191 (03) : 855 - 858
  • [10] A Case of Pitt-Hopkins Syndrome With Absence of Hyperventilation
    Inati, Adlette
    Abbas, Hussein A.
    Korjian, Serge
    Daaboul, Yazan
    Harajeily, Mohamad
    Saab, Raya
    JOURNAL OF CHILD NEUROLOGY, 2013, 28 (12) : 1698 - 1701
12345