策略
发表于 2025-3-26 22:00:09
https://doi.org/10.1007/978-3-662-58614-3inherited metabolic diseases; pediatrics; medical genetics; Mendelian disorder; endocrinology; metabolic
fastness
发表于 2025-3-27 04:27:01
978-3-662-58613-6Society for the Study of Inborn Errors of Metabolism (SSIEM) 2019
衰弱的心
发表于 2025-3-27 08:56:16
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Diverticulitis
发表于 2025-3-27 10:48:25
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
贫穷地活
发表于 2025-3-27 14:48:55
JIMD Reportshttp://image.papertrans.cn/j/image/500081.jpg
Emg827
发表于 2025-3-27 20:42:36
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感激小女
发表于 2025-3-28 00:29:18
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).
悬挂
发表于 2025-3-28 04:55:15
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信条
发表于 2025-3-28 09:53:41
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生命
发表于 2025-3-28 11:53:32
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