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Titlebook: JIMD Reports, Volume 19; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men

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書(shū)目名稱(chēng)JIMD Reports, Volume 19
編輯Johannes Zschocke,Matthias Baumgartner,Verena Pete
視頻videohttp://file.papertrans.cn/501/500057/500057.mp4
概述Unique collection of case and research reports on rare metabolic disorders.Contains unusual or previously unrecorded features relevant to metabolic disorders.All contributions rigorously peer-reviewed
叢書(shū)名稱(chēng)JIMD Reports
圖書(shū)封面Titlebook: JIMD Reports, Volume 19;  Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men
描述JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.
出版日期Book 2015
關(guān)鍵詞Mendelian disorder; endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic
版次1
doihttps://doi.org/10.1007/978-3-662-46190-7
isbn_softcover978-3-662-46189-1
isbn_ebook978-3-662-46190-7Series ISSN 2192-8304 Series E-ISSN 2192-8312
issn_series 2192-8304
copyrightSSIEM and Springer-Verlag Berlin Heidelberg 2015
The information of publication is updating

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Yin-Hsiu Chien,Jennifer L. Goldstein,Wuh-Liang Hwu,P. Brian Smith,Ni-Chung Lee,Shu-Chuan Chiang,Advi of 1989. It was the first meeting of its kind and was convened as a forum to review and discuss the phylogeny of some of the cell biological functions that underlie nervous system function, such matters as intercellular communication in diverse, lower organisms, and the electrical excitability of p
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Mary Ellen Lynch,Nancy L. Potter,Claire D. Coles,Judith L. Fridovich-Keilar space. They are found throughout the animal kingdom in virtually all tissues, including the nervous system where they form electrical synapses. Where gap junctions occur, the adjacent cell membranes are in close apposition, with protein channels spanning a 2–4 nm intercellular space. The junction
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Pankaj Prasun,Sarah Young,Gajja Salomons,Andrea Werneke,Yong-hui Jiang,Eduard Struys,Mikell Paige,Ma complex metabolic disorder in which both genetic and environmental factors play roles in the etiology. Advances in genetic analyses brought tremendous successes in identifying genetic components of common T2D and monogenic form of diabetes such as maturity-onset diabetes of the young (MODY). Large-
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Evelina Maines,Grazia Morandi,Francesca Olivieri,Marta Camilot,Paolo Cavarzere,Rossella Gaudino,Franmmon and complex disease, and filaggrin gene (.) was identified as a strong genetic component. Numerous variations of . were identified and European and Asian patients harbor each distinct mutation profiles. Excess non-synonymous variants over synonymous variants of . in general populations indicate
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A De Novo Variant in Galactose-1-P Uridylyltransferase (,) Leading to Classic Galactosemia,he middle enzyme in the Leloir pathway of galactose metabolism. Patients with CG carry pathogenic loss-of-function mutations in both of their . alleles; the parents of patients are considered obligate carriers. We report here a first exception to that rule – a . . variant in a patient with classic g
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