標題: Titlebook: Neurometabolic Hereditary Diseases of Adults; Alessandro P. Burlina Book 2018 Springer International Publishing AG, part of Springer Natur [打印本頁] 作者: 側(cè)面上下 時間: 2025-3-21 16:35
書目名稱Neurometabolic Hereditary Diseases of Adults影響因子(影響力)
書目名稱Neurometabolic Hereditary Diseases of Adults影響因子(影響力)學科排名
書目名稱Neurometabolic Hereditary Diseases of Adults網(wǎng)絡公開度
書目名稱Neurometabolic Hereditary Diseases of Adults網(wǎng)絡公開度學科排名
書目名稱Neurometabolic Hereditary Diseases of Adults被引頻次
書目名稱Neurometabolic Hereditary Diseases of Adults被引頻次學科排名
書目名稱Neurometabolic Hereditary Diseases of Adults年度引用
書目名稱Neurometabolic Hereditary Diseases of Adults年度引用學科排名
書目名稱Neurometabolic Hereditary Diseases of Adults讀者反饋
書目名稱Neurometabolic Hereditary Diseases of Adults讀者反饋學科排名
作者: 軟膏 時間: 2025-3-21 23:22
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作者: Cpap155 時間: 2025-3-22 01:39
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作者: foppish 時間: 2025-3-22 07:27
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作者: 駭人 時間: 2025-3-22 12:11
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 作者: 過于光澤 時間: 2025-3-22 13:44
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作者: 個阿姨勾引你 時間: 2025-3-22 20:26 作者: 混合物 時間: 2025-3-22 23:19 作者: Medley 時間: 2025-3-23 04:43
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作者: 不近人情 時間: 2025-3-23 06:29 作者: 驚奇 時間: 2025-3-23 12:45 作者: 強行引入 時間: 2025-3-23 15:55 作者: Excise 時間: 2025-3-23 18:45 作者: brassy 時間: 2025-3-23 23:00 作者: Calibrate 時間: 2025-3-24 02:24
Book 2018tion on diseases which are not easily recognized (i.e. Niemann-Pick disease type C), and diseases with clinical features mimicking other common neurodegenrative diseases (i.e. Wilson‘s disease). Neurometabolic Hereditary Diseases is written with a clinical focus for adult neurologists working in general hospitals..作者: STENT 時間: 2025-3-24 09:10 作者: Aviary 時間: 2025-3-24 14:15
Dominique P. Germain M.D., Ph.D.,Iulia E. Jurca-Simina M.D.作者: audiologist 時間: 2025-3-24 17:06 作者: 負擔 時間: 2025-3-24 19:44 作者: 壯觀的游行 時間: 2025-3-25 00:10
Alexander Peter Murphy M.B.Ch.B.,Volker Straub M.D., Ph.D.作者: 割公牛膨脹 時間: 2025-3-25 05:05
Yann Nadjar M.D., Ph.D.,Marie T. Vanier M.D., Ph.D.作者: 結(jié)合 時間: 2025-3-25 09:18
France Woimant M.D.,Pascal Chaine M.D.,Aurélia Poujois M.D., Ph.D.作者: Cosmopolitan 時間: 2025-3-25 13:46
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作者: enterprise 時間: 2025-3-25 19:35
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作者: 調(diào)味品 時間: 2025-3-25 20:57 作者: 藥物 時間: 2025-3-26 00:30 作者: negligence 時間: 2025-3-26 06:21
http://image.papertrans.cn/n/image/664228.jpg作者: 扔掉掐死你 時間: 2025-3-26 09:24
https://doi.org/10.1007/978-3-319-76148-0Fabry disease; Niemann-Pick type C; Pompe disease; Treatable neurometabolic disease; Wilson disease; neur作者: 臭了生氣 時間: 2025-3-26 13:02
978-3-030-09414-0Springer International Publishing AG, part of Springer Nature 2018作者: 束以馬具 時間: 2025-3-26 17:43
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作者: Constituent 時間: 2025-3-27 00:55 作者: 不在灌木叢中 時間: 2025-3-27 01:25
,Homospectrality in Henry James’s Ghost Stories,ss of making absent that which the psyche most desires. In fact, it would be more accurate to observe that most of James’s ghost tales take their cue from the central claim made in Terry Castle’s influential work .:作者: 斷斷續(xù)續(xù) 時間: 2025-3-27 06:02 作者: 橡子 時間: 2025-3-27 11:12
Reinhold Sellien,Helmut Selliennion is formed by two electrons occupying previously unfilled orbitals, the resonance is called “core-excited” or may be referred to as a two-particle, one-hole state. In the case of the latter, the electron is captured by the positive electron affinity of an electronically excited state of the targ作者: 側(cè)面左右 時間: 2025-3-27 15:44
Andrei Rodinlisierung basiert auf einer featurelokalen Optimierung der Zuteilung von Fertigungsressourcen zu Bearbeitungsschritten mit der Spezifikationssprache SORC (.trategie .rdering of .esource .ombinations); er wird in Abschnitt 13.2 beschrieben. Der Schwerpunkt dieser Realisierungsvariante liegt auf einer作者: Fraudulent 時間: 2025-3-27 20:41
,,d into the environment with feces from definitive hosts (Craig et al. 2015). Nevertheless, high environmental dog contamination index does not necessarily correspond to high prevalence in humans as transmission is strongly linked to human behavior and hygiene (Chaabane-Banaoues et al. 2015), the glo作者: 小說 時間: 2025-3-28 01:41
Anupam Shukla,Ritu Tiwari,Rahul Kalawith human studies on tolerability and therapeutic effects. Special studies according to various populations and different therapeutic indications are necessary. These items are covered in the third volume: ?Me978-3-540-89891-7作者: 退出可食用 時間: 2025-3-28 02:25 作者: Volatile-Oils 時間: 2025-3-28 09:06 作者: Engaged 時間: 2025-3-28 13:46
