Severe encephalopathy with brain atrophy and hypomyelination due to adenylosuccinate lyase deficiency--MRI, clinical, biochemical and neuropathological findings of Polish patients [0.03%]
腺苷琥珀酸裂解酶缺乏所致严重脑病、脑萎缩和脱髓鞘的磁共振成像、临床生化及神经病理学特点：波兰患者的资料报告
Hanna Mierzewska,Bogna Schmidt-Sidor,Elzbieta Jurkiewicz et al.
Hanna Mierzewska et al.
Adenylosuccinate lyase (ADSL) deficiency is an autosomal recessive disorder caused by mutation in the ADSL gene. The disease was identified in 1984 by Jaeken and van der Berghe as the first inborn defect of purine biosynthesis. Affected chi...
Serum very-long-chain fatty acids levels determined by gas chromatography in the diagnosis of peroxisomal disorders in Poland [0.03%]
气相色谱法测定血清极长链脂肪酸水平在诊断波兰过氧化物酶体病中的作用
Teresa Joanna Stradomska,Anna Tylki-Szymańska
Teresa Joanna Stradomska
Peroxisomal disorders are a large group of genetically determined metabolic diseases in which the biogenesis of peroxisomes is defective or there is a deficiency of only a single enzyme activity or substrate transporter. The objective of th...
Calbindin positive Purkinje cells in the pathology of human cerebellum occurring at the time of its development [0.03%]
人小脑发育期川BINDIN阳性蒲肯野细胞的病理学变化
Milena Laure-Kamionowska,Danuta Maślińska
Milena Laure-Kamionowska
Development of cerebellum continues over an extremely long period of time extending from the early embryonic phase until the first postnatal years. During an extended time of maturation the cerebellum is vulnerable to harmful agents. A grou...
The molecular biology of senile plaques and neurofibrillary tangles in Alzheimer's disease [0.03%]
阿尔茨海默病老年斑和神经纤维缠结的分子生物学
Richard A Armstrong
Richard A Armstrong
Since the earliest descriptions of the disease, senile plaques (SP) and neurofibrillary tangles (NFT) have been regarded as the pathological 'hallmarks' of Alzheimer's disease (AD). Whether or not SP and NFT are sufficient cause to explain ...
Review
Folia neuropathologica. 2009;47(4):289-99. DOI: 2009