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1. ペリツェウス・メルツバッハー病 pelizaeus merzbacher disease
2. 先天性代謝異常：分類 inborn errors of metabolism classification
3. 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

Qin L, Liu X, Sun Q, Fan Z, Xia D, Ding G, Ong HL, Adams D, Gahl WA, Zheng C, Qi S, Jin L, Zhang C, Gu L, He J, Deng D, Ambudkar IS, Wang S.SourceSalivary Gland Disease Center and Beijing Key Laboratory of Tooth Regeneration and Function Reconstruction, Capital Medical University School of Stomatology, Beijing 100050, China.
Proceedings of the National Academy of Sciences of the United States of America.Proc Natl Acad Sci U S A.2012 Aug 14;109(33):13434-9. doi: 10.1073/pnas.1116633109. Epub 2012 Jul 9.
In vivo recycling of nitrate (NO(3)(-)) and nitrite (NO(2)(-)) is an important alternative pathway for the generation of nitric oxide (NO) and maintenance of systemic nitrate-nitrite-NO balance. More than 25% of the circulating NO(3)(-) is actively removed and secreted by salivary glands. Oral comme
PMID 22778404

Sialic acid deposition impairs the utility of AAV9, but not peptide-modified AAVs for brain gene therapy in a mouse model of lysosomal storage disease.

Chen YH, Claflin K, Geoghegan JC, Davidson BL.SourceDepartment of Internal Medicine, University of Iowa, Iowa City, Iowa 52242, USA.
Molecular therapy : the journal of the American Society of Gene Therapy.Mol Ther.2012 Jul;20(7):1393-9. doi: 10.1038/mt.2012.100. Epub 2012 May 15.
Recombinant vector systems have been recently identified that when delivered systemically can transduce neurons, glia, and endothelia in the central nervous system (CNS), providing an opportunity to develop therapies for diseases affecting the brain without performing direct intracranial injections.
PMID 22588273

VAN DER HAM Maria,PRINSEN Berthil H. C. M. T.,HUIJMANS Jan G. M.,ABELING Nicolaas G. G. M.,DORLAND Bert,BERGER Ruud,DE KONING Tom J.,DE SAIN-VAN DER VELDEN Monique G. M.
Journal of chromatography. B, Analytical technologies in the biomedical and life sciences 848(2), 251-257, 2007-04-01
NAID 10025793831

Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE)

KAYASHIMA Tomohiko,MATSUO Hidenori,SATOH Akira,OHTA Tohru,YOSHIURA Koh-ichiro,MATSUMOTO Naomichi,NAKANE Yoshibumi,NIIKAWA Norio,KISHINO Tatsuya
Journal of human genetics 47(2), 77-79, 2002-02-01
NAID 10011574489