侧面上下
发表于 2025-3-21 16:35:13
书目名称Neurometabolic Hereditary Diseases of Adults影响因子(影响力)<br> http://figure.impactfactor.cn/if/?ISSN=BK0664228<br><br> <br><br>书目名称Neurometabolic Hereditary Diseases of Adults影响因子(影响力)学科排名<br> http://figure.impactfactor.cn/ifr/?ISSN=BK0664228<br><br> <br><br>书目名称Neurometabolic Hereditary Diseases of Adults网络公开度<br> http://figure.impactfactor.cn/at/?ISSN=BK0664228<br><br> <br><br>书目名称Neurometabolic Hereditary Diseases of Adults网络公开度学科排名<br> http://figure.impactfactor.cn/atr/?ISSN=BK0664228<br><br> <br><br>书目名称Neurometabolic Hereditary Diseases of Adults被引频次<br> http://figure.impactfactor.cn/tc/?ISSN=BK0664228<br><br> <br><br>书目名称Neurometabolic Hereditary Diseases of Adults被引频次学科排名<br> http://figure.impactfactor.cn/tcr/?ISSN=BK0664228<br><br> <br><br>书目名称Neurometabolic Hereditary Diseases of Adults年度引用<br> http://figure.impactfactor.cn/ii/?ISSN=BK0664228<br><br> <br><br>书目名称Neurometabolic Hereditary Diseases of Adults年度引用学科排名<br> http://figure.impactfactor.cn/iir/?ISSN=BK0664228<br><br> <br><br>书目名称Neurometabolic Hereditary Diseases of Adults读者反馈<br> http://figure.impactfactor.cn/5y/?ISSN=BK0664228<br><br> <br><br>书目名称Neurometabolic Hereditary Diseases of Adults读者反馈学科排名<br> http://figure.impactfactor.cn/5yr/?ISSN=BK0664228<br><br> <br><br>
软膏
发表于 2025-3-21 23:22:20
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
Cpap155
发表于 2025-3-22 01:39:57
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
发表于 2025-3-22 07:27:22
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
骇人
发表于 2025-3-22 12:11:02
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
过于光泽
发表于 2025-3-22 13:44:33
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
个阿姨勾引你
发表于 2025-3-22 20:26:24
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混合物
发表于 2025-3-22 23:19:04
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Medley
发表于 2025-3-23 04:43:55
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
不近人情
发表于 2025-3-23 06:29:29
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