割公牛膨胀
发表于 2025-3-25 05:05:55
Yann Nadjar M.D., Ph.D.,Marie T. Vanier M.D., Ph.D.
结合
发表于 2025-3-25 09:18:37
France Woimant M.D.,Pascal Chaine M.D.,Aurélia Poujois M.D., Ph.D.
Cosmopolitan
发表于 2025-3-25 13:46:59
Newborn Screening and High Risk Screening Population for Neurological Inherited Metabolic Diseases, technique identifies defects of amino acids, organic acids, urea cycle, fatty acid oxidation metabolism, lysosomal diseases and peroxisomal diseases..Subsequently, high risk population screening can be performed in order to identify the disease (diagnosis) even the specific therapeutical interventi
enterprise
发表于 2025-3-25 19:35:48
Fabry Disease,ge of development. However, in contrast to many other lysosomal storage diseases, most patients remain clinically asymptomatic or mildly symptomatic during the first years of life. First symptoms typically arise in childhood or adolescence and include, among others, neuropathic pain, angiokeratoma a
调味品
发表于 2025-3-25 20:57:47
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药物
发表于 2025-3-26 00:30:23
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negligence
发表于 2025-3-26 06:21:13
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扔掉掐死你
发表于 2025-3-26 09:24:16
https://doi.org/10.1007/978-3-319-76148-0Fabry disease; Niemann-Pick type C; Pompe disease; Treatable neurometabolic disease; Wilson disease; neur
臭了生气
发表于 2025-3-26 13:02:24
978-3-030-09414-0Springer International Publishing AG, part of Springer Nature 2018
束以马具
发表于 2025-3-26 17:43:17
Alessandro P. BurlinaDescribes only treatable inherited metabolic disease affecting the nervous system, to increase practical relevance to general neurologist in everyday clinical practice.Focus on diagnostic approach, mo