scholarly journals Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient

2021 ◽  
Author(s):  
Jia Geng ◽  
Yi Sun ◽  
Yi Zhao ◽  
Wenyu Xiong ◽  
Mingjun Zhong ◽  
...  
Keyword(s):  
Biotinidase Deficiency ◽  
Chinese Patient

CLIPPERS syndrome: A case report in a Chinese patient with juxtacortical lesions

2021 ◽  
Vol 50 ◽  
pp. 102853
Author(s):  
Haiqiang Jin ◽  
Yuhan Gao ◽  
Qianshuo Lu ◽  
Ran Liu ◽  
Qunyan Li ◽  
...  
Keyword(s):  
Case Report ◽  
Chinese Patient

scholarly journals Spermatorrhea in a Chinese patient with temporal lobe epilepsy: a case report

2021 ◽  
Vol 49 (1) ◽  
pp. 030006052098281
Author(s):  
Liang Zhang ◽  
Hao Yu ◽  
Dan Li ◽  
Hui Qian ◽  
Yuchao Chen
Keyword(s):  
Erectile Dysfunction ◽  
Case Report ◽  
Sexual Dysfunction ◽  
Temporal Lobe Epilepsy ◽  
Temporal Lobe ◽  
Neurological Disorder ◽  
Premature Ejaculation ◽  
Chinese Patient ◽  
Left Temporal Lobe ◽  
Rare Manifestation

Epilepsy is a chronic neurological disorder that is characterized by episodes of seizure. Sexual dysfunction has been reported in patients with seizure, which mostly manifests as erectile dysfunction and premature ejaculation in men. In this study, we report the case of a 65-year-old Chinese man with frequent spermatorrhea. Electroencephalography suggested local epilepsy in the left temporal lobe. After treatment with anti-epilepsy drugs, the symptoms disappeared and did not recur. To the best of our knowledge, this is the first reported case of epilepsy-induced spermatorrhea. The symptoms of spermatorrhea are probably a rare manifestation of seizure. When repetitive stereotyped symptoms occur, seizure should be considered, and tentative anti-epileptic treatment may be a good option.

scholarly journals A Novel Nonsense MMP21 Variant Causes Dextrocardia and Congenital Heart Disease in a Han Chinese Patient

2020 ◽  
Vol 7 ◽  
Author(s):  
Zhuang-Zhuang Yuan ◽  
Liang-Liang Fan ◽  
Zi-Chen Jiang ◽  
Yi-Feng Yang ◽  
Zhi-Ping Tan
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Chinese Patient ◽  
Han Chinese

Partial biotinidase deficiency: Clinical and biochemical features

1990 ◽  
Vol 116 (1) ◽  
pp. 78-83 ◽  
Author(s):  
Julie R. Secor McVoy ◽  
Harvey L. Levy ◽  
Michael Lawler ◽  
Michael A. Schmidt ◽  
Douglas D. Ebers ◽  
...  
Keyword(s):  
Biotinidase Deficiency ◽  
Biochemical Features

scholarly journals Evolution of viral RNA in a Chinese patient to interferon/ribavirin therapy for hepatitis C

2012 ◽  
Vol 24 (4) ◽  
pp. 353-360 ◽  
Author(s):  
Xian-Zi Wen ◽  
Zhi-Hai Chen ◽  
Ya-Zhi Wei ◽  
Jia-Fu Ji
Keyword(s):  
Hepatitis C ◽  
Chinese Patient ◽  
Viral Rna

Neonatal screening for biotinidase deficiency in north eastern italy

1988 ◽  
Vol 147 (3) ◽  
pp. 317-318 ◽  
Author(s):  
A. B. Burlina ◽  
W. G. Sherwood ◽  
M. V. Marchioro ◽  
B. Dalla Bernardina ◽  
D. Gaburro
Keyword(s):  
Neonatal Screening ◽  
Biotinidase Deficiency ◽  
North Eastern
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