Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease-Reference-Cited by-同舟云学术

Late-onset Myoclonic Seizure in a 78-year-old Woman with Gaucher Disease

Published:2023 Issue: Volume: Page:
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Yamaguchi-Takegami Nanaka¹,Takahashi Akiko¹,Mitsui Jun¹,Sugiyama Yusuke¹,Chikada Ayaka¹,Porto Kristine Joyce L¹,Takegami Naoki¹,Sakuishi Kaori¹,Ishiura Hiroyuki¹,Yamada Kaoru²,Shimizu Jun³,Tsuji Shoji¹,Toda Tatsushi¹

Affiliation:

1. Department of Neurology, Graduate School of Medicine, The University of Tokyo, Japan

2. Department of Health Administration / Prevention medicine, Sanraku Hospital, Japan

3. Department of Physical Therapy, Faculty of Medical Health, Tokyo University of Technology, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/advpub/0/advpub_1699-23/_pdf

Reference22 articles.

1. 1. BRADY RO, KANFER JN, SHAPIRO D. METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE. Biochem Biophys Res Commun 18: 221-225, 1965.

2. 2. Sidransky E. Gaucher disease: insights from a rare Mendelian disorder. Discov Med 14: 273-281, 2012.

3. 3. Roshan Lal T, Sidransky E. The Spectrum of Neurological Manifestations Associated with Gaucher Disease. Diseases 5: 2017.

4. 4. Alaei MR, Tabrizi A, Jafari N, Mozafari H. Gaucher Disease: New Expanded Classification Emphasizing Neurological Features. Iran J Child Neurol 13: 7-24, 2019.

5. 5. Tsuji S, Choudary PV, Martin BM, Stubblefield BK, Mayor JA, Barranger JA, et al. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. N Engl J Med 316: 570-575, 1987.