Titlebook: JIMD Reports, Volume 20; Johannes Zschocke,Matthias Baumgartner,Verena Pete Book 2015 SSIEM and Springer-Verlag Berlin Heidelberg 2015 Men

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Book 2015JIMD 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.

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https://doi.org/10.1007/978-3-662-46700-8Mendelian disorder; endocrinology; inherited metabolic diseases; medical genetics; pediatrics; metabolic

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JIMD Reports, Volume 20978-3-662-46700-8Series ISSN 2192-8304 Series E-ISSN 2192-8312

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Carnitine-Acylcarnitine Translocase Deficiency: Experience with Four Cases in Spain and Review of ts. Despite early diagnosis and treatment, the disease still has a high mortality rate...: Clinical symptoms, long-term follow-up, and biochemical and molecular results of four cases are described and compared with the reviewed literature data of 55 cases...: Two cases with neonatal onset, carrying i

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