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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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Mary Ellen Lynch,Nancy L. Potter,Claire D. Coles,Judith L. Fridovich-Keile of molecules with molecular weights up to about 1500, although the molecular weight cut-off depends on the shape and charge of the molecule involved, and upon the state of the channel itself. In the Arthropods, the channel is somewhat larger than in the other phyla, giving the upper size range quo
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Pankaj Prasun,Sarah Young,Gajja Salomons,Andrea Werneke,Yong-hui Jiang,Eduard Struys,Mikell Paige,Maly <15% of MODY patients in Japan. More than 50 years ago, Neel made two notions on genetics of T2D: one is calling T2D as geneticist’s nightmare and the other is thrifty genotype hypothesis. These notions are challenged, partly solved, with the modern genetic advances and are focused in this chapte
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Disordered Eating and Body Esteem Among Individuals with Glycogen Storage Disease,eating disorder. However, traditional eating disorder symptoms (e.g., binging, purging, fasting, etc.) were less prevalent in the GSD sample compared to population norms (. = −6.45, . < 0.001). Body esteem was generally lower for both children and adolescents/adults with GSD compared to population n
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Growth Hormone Deficiency and Lysinuric Protein Intolerance: Case Report and Review of the Literatuort stature. Two GH provocative tests revealed GHD. The patient started rhGH therapy and a controlled-protein diet initially with supplementation of oral arginine and then of citrulline. At 3-year follow-up, no significant increase in growth velocity and in insulin-like growth factor-1 (IGF-1) level
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Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Heree to establish efficient prenatal and carrier testing to facilitate an early detection of the disease. Here we describe the 95 mutations reported so far in HT1 with special emphasis on their geographical and ethnic distributions. Such information should enable the establishment of a preferential scr
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