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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/04/20 09:50:39」(JST)
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- 1. 先天性代謝異常：分類inborn errors of metabolism classification [show details]
- 2. 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 [show details]
- 3. クラッベ病krabbe disease [show details]
- 4. 急性運動失調を呈する小児に対するアプローチapproach to the child with acute ataxia [show details]
- 5. 乳児や小児の巨頭症：病因および評価macrocephaly in infants and children etiology and evaluation [show details]
English Journal
- GM2 Gangliosidosis Variant 0 (Sandhoff Disease) in a Mixed-Breed Dog.
- Kohyama M1, Yabuki A1, Kawasaki Y1, Kawaguchi H1, Miura N1, Kitano Y1, Onitsuka T1, Rahman MM1, Miyoshi N1, Yamato O1.
- Journal of the American Animal Hospital Association.J Am Anim Hosp Assoc.2015 Nov-Dec;51(6):396-400. doi: 10.5326/JAAHA-MS-6258.
- GM2 gangliosidosis variant 0 (Sandhoff disease, SD) is a fatal, progressive, neurodegenerative lysosomal storage disease caused by simultaneous deficiencies of acid β-hexosaminidases A and B. Canine SD has so far been identified only in two purebreeds. In this article, we present the case of a 10 m
- PMID 26535459
- Cerebrospinal Fluid Monoamine Metabolite Analysis in Pediatric Movement Disorders.
- Tonduti D1, Zorzi G2, Ghezzi D3, Zibordi F2, Garavaglia B3, Nardocci N4.
- Journal of child neurology.J Child Neurol.2015 Nov;30(13):1800-5. doi: 10.1177/0883073815581608. Epub 2015 Apr 23.
- Abnormal concentrations of dopamine and serotonin metabolites in the cerebrospinal fluid is the diagnostic hallmark of a group of treatable conditions known as the monoamine neurotransmitter disorders. We assessed cerebrospinal fluid dopamine and serotonin metabolite concentrations in a series of 69
- PMID 25907776
- A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing.
- Zhang H1, Yang R1, Wang Y1, Ye J1, Han L1, Qiu W1, Gu X1.
- Journal of human genetics.J Hum Genet.2015 Sep 17. doi: 10.1038/jhg.2015.112. [Epub ahead of print]
- Molecular diagnosis of genetic bone dysplasia is challenging for non-expert. A targeted next-generation sequencing technology was applied to identify the underlying molecular mechanism of bone dysplasia and evaluate the contribution of these genes to patients with bone dysplasia encountered in pedia
- PMID 26377240
Japanese Journal
- GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan
- UENO Hiroshi,YAMATO Osamu,SUGIURA Takeshi,KOHYAMA Moeko,YABUKI Akira,MIYOSHI Kenjiro,MATSUDA Kazuya,UCHIDE Tsuyoshi
- Journal of Veterinary Medical Science advpub(0), 2015
- … The activity of lysosomal acid β-galactosidase in leukocytes was negligible, resulting in the biochemical diagnosis of GM1 gangliosidosis. … However, genetic analysis did not identify the c.1448G>C mutation, which is the single known mutation of feline GM1 gangliosidosis, suggesting that the cat was affected with a new variant of the feline disease. …
- NAID 130005089972
- Real-Time PCR Genotyping Assay for GM2 Gangliosidosis Variant 0 in Toy Poodles and the Mutant Allele Frequency in Japan
- RAHMAN Mohammad Mahbubur,YABUKI Akira,KOHYAMA Moeko [他]
- The journal of veterinary medical science 76(2), 295-299, 2014-02
- NAID 40019993537
- Real-Time PCR Genotyping Assay for GM2 Gangliosidosis Variant 0 in Toy Poodles and the Mutant Allele Frequency in Japan
- RAHMAN Mohammad Mahbubur,YABUKI Akira,KOHYAMA Moeko,MITANI Sawane,MIZUKAMI Keijiro,UDDIN Mohammad Mejbah,CHANG Hye-Sook,KUSHIDA Kazuya,KISHIMOTO Miori,YAMABE Remi,YAMATO Osamu
- Journal of Veterinary Medical Science 76(2), 295-299, 2014
- … GM2 gangliosidosis variant 0 (Sandhoff disease, SD) is a fatal, progressive neurodegenerative lysosomal storage disease caused by mutations of the HEXB gene. …
- NAID 130003382367
Related Links
- GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord. Some researchers classify this condition into three major types based on the age at which signs ...
- GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder characterized by the generalized accumulation of GM1 ganglioside, oligosaccharides, and the mucopolysaccharide keratan sulfate (and their ...
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| リンク元 | 「ガングリオシドーシス」 |
| 拡張検索 | 「GM1 gangliosidosis」「GM2 gangliosidosis」「GM2-gangliosidosis」「gangliosidosis GM1」「gangliosidosis GM2」 |