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

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軟膏

Newborn Screening and High Risk Screening Population for Neurological Inherited Metabolic Diseases, complex and susceptible to technical problems. Since 1970s, batteries of relatively inexpensive tests named screening for metabolic diseases that can be carried out rapidly on a large numbers of specimens have been developed..Metabolic screening is different according to the age of patients. In the

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Neuroimaging of Inherited Metabolic Diseases of Adulthood,ted to reach adulthood. Inherited metabolic diseases in adulthood rarely present with overt metabolic decompensation, being an insidious onset more common. Neuroimaging is therefore considered not only for identifying diagnostic lesion patterns but also in the search for, disease-related complicatio

foppish

Fabry Disease,r pathology induced by lysosomal glycosphingolipid deposition. Absent or deficient activity of lysosomal exoglycohydrolase alpha galactosidase A (a-Gal A) results in progressive accumulation of globotriaosylceramide (Gb3 or GL3; also known as ceramidetrihexoside or CTH) and related glycosphingolipid

駭人

Pompe Disease,e, over 350 pathogenic mutations have been identified in the gene which codes for this enzyme (GAA). Mutations causing Pompe disease are highly ethnicity dependent and may suggest founder mutations..Pompe disease can present at any time of life, from the more severe classical infantile to the adult

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Niemann-Pick Disease Type C,ic, leading to a long diagnostic delay. Recently developed high performance plasmatic diagnostic biomarkers could improve NP-C detection, if used at a large scale in undiagnosed young patients with cerebellar ataxia / generalized dystonia, and/or cognitive decline, and/or atypical psychosis. Miglust

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Book 2018 of the most common neurometabolic hereditary diseases, which he might have seen and never considered in the differential diagnosis. Information regarding how to deal with diseases with special therapy is provided (i.e. enzymatic replacement therapy in Fabry disease and Pompe disease), as is informa

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