Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and

来源 :世界临床病例杂志 | 被引量 : 0次 | 上传用户:davesd
下载到本地 , 更方便阅读
声明 : 本文档内容版权归属内容提供方 , 如果您对本文有版权争议 , 可与客服联系进行内容授权或下架
论文部分内容阅读
BACKGROUND Type 1 sialidosis,also known as cherry-red spot-myoclonus syndrome,is a rare autosomal recessive lysosomal storage disorder presenting in the second decade of life.The most common symptoms are myoclonus,ataxia and seizure.It is rarely encounter
其他文献
BACKGROUND Inguinal hernia repair is one of the most common general surgical operations worldwide.We present a case of indirect inguinal hernia containing an ex
BACKGROUND Inverted papilloma is an uncommon neoplasm in the nasal cavity.It is a histologically benign tumor,but has a high recurrence and local invasion rate.
With the development of endoscopic therapy,argon plasma coagulation(APC)has been widely used by endoscopists.It has many advantages,such as simple to operate,lo
BACKGROUND Malignancy prediction remains important to preoperative diagnosis and postoperative follow-up in laryngeal neoplasm.AIM To evaluate the circulating i
BACKGROUND High venous ammonia(VA)values have been proven to be a part of the mechanism of hepatic encephalopathy in patients with liver cirrhosis(LC)as well as
BACKGROUND Peripherally inserted central catheters(PICCs)have been increasingly applied worldwide owing to many advantages.Even with these advantages,the relate
BACKGROUND Microcystic adnexal carcinoma(MAC)is a rare malignant tumor of the skin that is commonly found on the face.It grows slowly and has a low mortality ra
BACKGROUND The introduction of modern diagnostic tools has transformed the field of maxillofacial radiology.Odontogenic infection and fascial space involvement
BACKGROUND Inositol is a hexa-carbon polyol,a naturally soluble vitamin,often found in various foods.AIM To discuss the impact of different stereoisomers of ino
BACKGROUND Hematopoietic stem cell transplantation(HSCT)is widely used in the treatment of hematological diseases.However,complications after transplantation,su