WordNet
- the 7th letter of the Roman alphabet (同)g
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- 1. 症候性（二次性）ミオクローヌス symptomatic secondary myoclonus
- 2. アシュケナージ系ユダヤ人集団における遺伝的疾患の出生前スクリーニング prenatal screening for genetic disease in the ashkenazi jewish population
- 3. 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
- 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. 進行黒色腫に対するインターロイキン2およびその他の免疫療法 interleukin 2 and other immunotherapies for advanced melanoma
English Journal
- Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation.
- Beker-Acay M1, Elmas M2, Koken R3, Unlu E1, Bukulmez A3.
- Polish journal of radiology / Polish Medical Society of Radiology.Pol J Radiol.2016 Mar 3;81:86-9. doi: 10.12659/PJR.895911. eCollection 2016.
- BACKGROUND: Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and i
- PMID 26985245
- 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
Japanese Journal
- 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
- Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB : application of simulation analysis
- Yasui Naoko,Takaoka Yutaka,Nishio Hisahide [他]
- Journal of human genetics 58(9), 611-617, 2013-09
- NAID 40019791957
Related Links
- The GM2 gangliosidoses are a group of related genetic disorders that result from a deficiency of the enzyme beta-hexosaminidase. This enzyme catalyzes the biodegradation of fatty acid derivatives known as gangliosides. The diseases are ...
Related Pictures
★リンクテーブル★
| リンク元 | 「GM2ガングリオシドーシス」 |
| 関連記事 | 「G」「GM2 gangliosidosis」「gangliosidosis」 |
「GM2ガングリオシドーシス」
- βヘキソサミニダーゼ欠損症
GM2ガングリオシドーシス
- テイ・サックス病：ヘキサミニダーゼAの欠損
- ガングリオシドGM2－－(ヘキサミニダーゼA)－→ガングリオシドGM3
- サンドホフ病：ヘキサミニダーゼA,Bの欠損
- グロボシド－－(ヘキサミニダーゼA,B)－→トリヘキソシルセラミド
「G」