Josef Finsterer,Fulvio A Scorza,Ana C Fiorini et al.
Josef Finsterer et al.
A case of subacute combined degeneration of the spinal cord due to folic acid and copper deficiency [0.03%]
叶酸和铜缺乏引起亚急性联合变性的病例报告
Takuji Nakamura,Masanori Nishi,Mihoko Rikitake et al.
Takuji Nakamura et al.
Subacute combined degeneration of the spinal cord (SACD) is a rare neurologic disorder manifesting progressive symptoms of paresthesia and spastic paralysis. Herein we present an autopsy case of SACD caused by folic acid and copper deficien...
Identification of a novel PAFAH1B1 missense mutation as a cause of mild lissencephaly with basal ganglia calcification [0.03%]
识别出一个新颖的PAFAH1B1错义突变作为轻度平滑脑症伴基底节钙化的病因
Chang-He Shi,Shuo Zhang,Zhi-Hua Yang et al.
Chang-He Shi et al.
Purpose: To investigate the genetic and clinical features of a Chinese family exhibiting an autosomal dominant inheritance pattern of lissencephaly. Metho...
Josef Finsterer,Sinda Zarrouk-Mahjoub
Josef Finsterer
Incidence of infantile spinal muscular atrophy on Shikoku Island of Japan [0.03%]
日本四国岛婴儿型脊髓肌肉萎缩症的发病率
Kentaro Okamoto,Mitsumasa Fukuda,Isao Saito et al.
Kentaro Okamoto et al.
Background: Spinal muscular atrophy (SMA) is an autosomal recessive disorder caused by homozygous mutations in the SMN1 gene. SMA has long been known to be the most common genetic cause of infant mortality. However, there...
Elimination of amyloid precursor protein in senile plaques in the brain of a patient with Alzheimer-type dementia and Down syndrome [0.03%]
阿兹海默型痴呆并唐氏综合征患者脑中老年斑内淀粉前体蛋白的清除作用
Yasuhiro Arai,Yuji Iwasaki,Toshihiro Suzuki et al.
Yasuhiro Arai et al.
The average lifespan of individuals with Down syndrome has approximately doubled over the past three decades to 55-60 years. To reveal the pathogenic process of Alzheimer-type dementia in individuals with Down syndrome, we immunohistochemic...
Atypical PEX16 peroxisome biogenesis disorder with mild biochemical disruptions and long survival [0.03%]
轻型生化异常和较长生存期的PEX16异位 peroxisome 生物发生障碍病病例报告
Nuha Al Zaabi,Anoud Kendi,Fatma Al-Jasmi et al.
Nuha Al Zaabi et al.
Background: Mutations in PEX16 cause peroxisome biogenesis disorder (PBD). Zellweger syndrome characterized by neurological dysfunction, dysmorphic features, liver disease and early death represents the severe end of this...
Characteristics of Japanese patients with X-linked adrenoleukodystrophy and concerns of their families from the 1st registry system [0.03%]
日本X-连锁肾上腺脑白质营养不良患者的特征及其家族担忧：来自首个登记系统报告
Ken Sakurai,Toya Ohashi,Nobuyuki Shimozawa et al.
Ken Sakurai et al.
Objective: Early diagnosis is critical in achieving the best outcome following hematopoietic stem cell transplantation (HSCT) for X-linked adrenoleukodystrophy (X-ALD). We used a questionnaire to gather detailed clinical ...
Dense array EEG estimated the epileptic focus in a patient with epilepsy secondary to tuberous sclerosis complex [0.03%]
dense阵列EEG用于估计结节性硬化症复合体继发癫痫患者的致痫区
Yuki Amano,Ayataka Fujimoto,Tohru Okanishi et al.
Yuki Amano et al.
Purpose: Tuberous sclerosis complex (TSC) is a leading cause of epilepsy, with seizures affecting almost 80-90% of children. We used the concordance between magnetic resonance imaging (MRI) and dense array electroencephal...
Keiko Ishigaki,Ikuko Kato,Terumi Murakami et al.
Keiko Ishigaki et al.
Background: The leading cause of death in patients with Fukuyama congenital muscular dystrophy (FCMD) is congestive heart failure or respiratory dysfunction, which is same as that in Duchenne muscular dystrophy (DMD). Rec...