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Titlebook: JIMD Reports - Case and Research Reports, 2012/4; Garry Brown,Eva Morava,Johannes Zschocke Book 2013 SSIEM and Springer-Verlag Berlin Heid

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發(fā)表于 2025-3-21 19:51:38 | 只看該作者 |倒序瀏覽 |閱讀模式
書目名稱JIMD Reports - Case and Research Reports, 2012/4
編輯Garry Brown,Eva Morava,Johannes Zschocke
視頻videohttp://file.papertrans.cn/501/500045/500045.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
叢書名稱JIMD Reports
圖書封面Titlebook: JIMD Reports - Case and Research Reports, 2012/4;  Garry Brown,Eva Morava,Johannes Zschocke Book 2013 SSIEM and Springer-Verlag Berlin Heid
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 2013
關(guān)鍵詞endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic disease
版次1
doihttps://doi.org/10.1007/978-3-642-32442-0
isbn_softcover978-3-642-32441-3
isbn_ebook978-3-642-32442-0Series ISSN 2192-8304 Series E-ISSN 2192-8312
issn_series 2192-8304
copyrightSSIEM and Springer-Verlag Berlin Heidelberg 2013
The information of publication is updating

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Temporal Intradiploic Dilative Vasculopathy: An Additional Pathogenic Factor for the Hearing Loss is a result of lysosomal α-galactosidase deficiency. High frequencies progressive sensorineural hearing loss (HL), sudden deafness, tinnitus and dizziness are otological symptoms frequently reported..A 45-year-old man with FD, on haemodialysis since age 25, complaining of progressive HL, was started
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Hereditary Intrinsic Factor Deficiency in Chaldeans,of insufficient Cbl are megaloblastic anemia, nutrient malabsorption, and neurological problems. The treatment is straightforward with parenteral Cbl supplementation that resolves most health issues without an urgent need to clarify their cause. Aside from being clinically unsatisfying, failing to e
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