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1. 先天性代謝異常：疫学、病因、および臨床的特徴 inborn errors of metabolism epidemiology pathogenesis and clinical features
2. 先天性代謝異常：分類 inborn errors of metabolism classification
3. クラッベ病 krabbe disease
4. 筋萎縮性側索硬化症およびその他の運動ニューロン疾患の診断 diagnosis of amyotrophic lateral sclerosis and other forms of motor neuron disease
5. 幼児および小児における精密な神経学的評価 detailed neurologic assessment of infants and children

A novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation.

Son MY1,2, Kwak JE1, Seol B1, Lee da Y1, Jeon H1, Cho YS1,2.
The Journal of pathology.J Pathol.2015 Sep;237(1):98-110. doi: 10.1002/path.4551. Epub 2015 May 26.
GM1 gangliosidosis (GM1) is an inherited neurodegenerative disorder caused by mutations in the lysosomal β-galactosidase (β-gal) gene. Insufficient β-gal activity leads to abnormal accumulation of GM1 gangliosides in tissues, particularly in the central nervous system, resulting in progressive ne
PMID 25925601

Bidchol AM1, Dalal A2, Trivedi R3, Shukla A1, Nampoothiri S4, Sankar VH5, Danda S6, Gupta N7, Kabra M7, Hebbar SA8, Bhat RY8, Matta D2, Ekbote AV6, Puri RD9, Phadke SR10, Gowrishankar K11, Aggarwal S12, Ranganath P12, Sharda S13, Kamate M14, Datar CA15, Bhat K16, Kamath N16, Shah H17, Krishna S18, Gopinath PM19, Verma IC9, Nagarajaram HA20, Satyamoorthy K19, Girisha KM21.
Gene.Gene.2015 Aug 10;567(2):173-81. doi: 10.1016/j.gene.2015.04.078. Epub 2015 Apr 30.
GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in the GLB1 gene, leading to the deficiency of the enzyme β-d-galactosidase. In this study, we report molecular findings in 50 Asian Indian families with GM1 gangliosidosis. We sequenced all the exons and flanking intronic seque
PMID 25936995

GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan.

Ueno H1, Yamato O, Sugiura T, Kohyama M, Yabuki A, Miyoshi K, Matsuda K, Uchide T.
The Journal of veterinary medical science / the Japanese Society of Veterinary Science.J Vet Med Sci.2015 Aug 3. [Epub ahead of print]
A male Japanese domestic cat with retarded growth in Hokkaido, Japan, showed progressive motor dysfunction, such as ataxia starting at 3 months of age and tremors, visual disorder and seizure after 4 months of age. Finally, the cat died of neurological deterioration at 9 months of age. Approximately
PMID 26234889