Titlebook: JIMD Reports, Volume 43; Eva Morava,Matthias Baumgartner,Verena Peters Book 2019 Society for the Study of Inborn Errors of Metabolism (SSI

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https://doi.org/10.1007/978-3-662-58614-3inherited metabolic diseases; pediatrics; medical genetics; Mendelian disorder; endocrinology; metabolic

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978-3-662-58613-6Society for the Study of Inborn Errors of Metabolism (SSIEM) 2019

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Diverticulitis

Eva Morava,Matthias Baumgartner,Verena PetersUnique 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/500081.jpg

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RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants,h is often associated with this condition, was not observed in our patients. Molecular analysis of RFT1 showed biallelic missense variants including three novel ones: c.827G?>?A (p.G276D), c.73C?>?T (p.R25W), and c.208T?>?C (p.C70R).

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Normal Growth in PKU Patients Under Low-Protein Diet in a Single-Center Cross-Sectional Study,), whereas postpubertal patients ≥12?years did not differ significantly in height .-scores compared to the target height (.?=?0.071). Healthy siblings’ height did not differ from target height in neither age group (.?=?0.100/.?=?0.301)..Our results suggest that PKU patients treated with low-protein