Titlebook: Neurometabolic Hereditary Diseases of Adults; Alessandro P. Burlina Book 2018 Springer International Publishing AG, part of Springer Natur

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Yann Nadjar M.D., Ph.D.,Marie T. Vanier M.D., Ph.D.

結(jié)合

France Woimant M.D.,Pascal Chaine M.D.,Aurélia Poujois M.D., Ph.D.

Cosmopolitan

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

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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

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藥物

negligence

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https://doi.org/10.1007/978-3-319-76148-0Fabry disease; Niemann-Pick type C; Pompe disease; Treatable neurometabolic disease; Wilson disease; neur

臭了生氣

978-3-030-09414-0Springer International Publishing AG, part of Springer Nature 2018

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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