Canavan’s disease主要靠CT和MRI检查,表现为双侧大脑半球皮质下白质区弥漫性脱髓鞘改变,脑池、脑沟、脑裂加深、增宽,脑室系统对称性增宽。目前中国尚没有尿中的NAA含量测定及基因检查该病,故MRS可作为确诊本病的主要方法。 病例举例:(病史:2岁男孩,头颅巨大) 横断面显示双侧大脑半球...
1.Canavan Disease, Maria R. Bokhari; Debopam Samanta; Syed Rizwan A. Bokhari. July 6, 2020. 2.Canavan disease: Clinical features and recent advances in research. Hideki Hoshino and Masaya Kubota. Pediatrics International (2014) 56, 477–483. 【重...
关注罕病 | 卡纳万病-全球基因疗法临床研究患者招募 Canavan Disease,又称为海绵状脑白质营养不良,卡纳万病。是一种极其罕见致命性儿童遗传性脑病,这种疾病是由 ASPA 基因的遗传突变引起的,该基因编码天冬氨酸酰化酶,一种分解被称为 N-乙酰-L-天冬氨酸 (NAA) 的化合物的蛋白质。 根据起病年龄及疾病严重程度,C...
Canavan disease是什么意思 [医]卡纳万病([脑]海绵变性) Canavan disease英英释义 noun a rare, usually fatal, demyelinating disease of infancy that is characterized by spongy degeneration of the brain caused by an enzyme deficiency and that typically affects individuals of eastern European Jewish ancestry...
The meaning of CANAVAN DISEASE is a rare, usually fatal, demyelinating disease of infancy that is characterized by spongy degeneration of the brain caused by an enzyme deficiency and that typically affects individuals of eastern European Jewish ancestry.
必应词典为您提供Canavan-disease的释义,网络释义: 海绵状脑白质营养不良症;卡拿弯病;脑白质海绵状变性;
Canavan disease (CD), a rare recessive autosomal genetic disorder, is characterized by early onset and a progressive spongy degeneration of the brain involving loss of the axon's myelin sheath. After a relatively normal birth, homozygous individuals generally develop clinical symptoms within months, ...
近日,BridgeBio公司宣布,美国FDA授予在研基因疗法BBP-812再生医学先进疗法(RMAT)认定,用于治疗卡纳万病(Canavan disease)。这一认定基于1/2 期临床试验CANaspire 的积极结果,所有接受治疗的患者均有功能性改善,表明BBP-812有潜力成为首款解决Canavan 病患者的未满足需求的疗法。
2) Canavan disease 海绵状脑白质营养不良症3) Leukodystrophy [,lju:kə'distrəfi] 脑白质营养不良 1. MRI and ~1 H -MRS Findings in Familial Metachromatic Leukodystrophy: 3 Cases Report and Review of Literatures; 家族性异染性脑白质营养不良的磁共振成像及磁共振质子波谱表现:附3例报告及...
Canavan病(Canavandisease,MIM#608034),有名海绵状脑白质营养不良,是一种罕见的常染色体隐性遗传神经系统变性病,由MyrtelleCanavan于1931年最先报道。本病主要临床表现为出生3～5个月出现头大、发育迟缓及严重肌张力低下,尿代谢筛查N2乙酰天冬氨酸(NAA)明显增高,头颅磁共振波谱(MRS)分析显示NAA峰显著升高。 临床表...