Titlebook: JIMD Reports, Volume 33; Eva Morava (Editor-in-Chief),Matthias Baumgartner, Book 2017 SSIEM and Springer-Verlag Berlin Heidelberg 2017 inh

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2192-8304 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.978-3-662-55011-3978-3-662-55012-0Series ISSN 2192-8304 Series E-ISSN 2192-8312

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Brain White Matter Integrity Mediates the Relationship Between Phenylalanine Control and Executive processing, and MD in the PPO mediated the relationship between Phe exposure and working memory. These exploratory findings demonstrate the importance of using sophisticated modeling procedures to understand the interplay among metabolic control, neural factors, and functional outcomes in individuals with PKU.

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Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?,ns beyond the first report of PCH6 by Edvardson and colleagues. We propose to classify .-associated phenotypes as an early onset mitochondrial encephalopathy, since this is more in agreement with both clinical presentation and underlying genetic cause.

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Missed Newborn Screening Case of Carnitine Palmitoyltransferase-II Deficiency,of disease. We conclude that (1) not all cases of CPT-II deficiency are currently detected through newborn screening, even when blood is appropriately collected on day 2 of life and (2) CPT-II deficiency should be kept on the differential for patients presenting with rhabdomyolysis, even if the newborn screening results were normal.

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JIMD Reports, Volume 33978-3-662-55012-0Series ISSN 2192-8304 Series E-ISSN 2192-8312

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Eva Morava (Editor-in-Chief),Matthias Baumgartner,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

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JIMD Reportshttp://image.papertrans.cn/j/image/500071.jpg