標題: Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm John Fernandes,Jean-Marie Saudubray,John H. Walter Book 20064th edition Springer-Verlag Ber [打印本頁] 作者: 切口 時間: 2025-3-21 19:03
書目名稱Inborn Metabolic Diseases影響因子(影響力)
書目名稱Inborn Metabolic Diseases影響因子(影響力)學科排名
書目名稱Inborn Metabolic Diseases網(wǎng)絡公開度
書目名稱Inborn Metabolic Diseases網(wǎng)絡公開度學科排名
書目名稱Inborn Metabolic Diseases被引頻次
書目名稱Inborn Metabolic Diseases被引頻次學科排名
書目名稱Inborn Metabolic Diseases年度引用
書目名稱Inborn Metabolic Diseases年度引用學科排名
書目名稱Inborn Metabolic Diseases讀者反饋
書目名稱Inborn Metabolic Diseases讀者反饋學科排名
作者: Granular 時間: 2025-3-21 21:51 作者: prosperity 時間: 2025-3-22 00:50
Disorders of Glucose Transportlucose and galactose carrier within liver, kidney and pancreatic β-cells. Patients typically present with a combination of hepatic glycogen storage and a generalized renal tubular dysfunction which includes severe glucosuria.作者: foliage 時間: 2025-3-22 05:42
Book 20064th editionpensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, die- th cians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This new 4 edition has been extensively revised. An additional clini作者: 交響樂 時間: 2025-3-22 09:15 作者: 博愛家 時間: 2025-3-22 14:39 作者: Nebulous 時間: 2025-3-22 19:01 作者: PAD416 時間: 2025-3-23 00:55 作者: 迫擊炮 時間: 2025-3-23 01:49
reader should first refer to Chapter 1. This chapter, which includes a number of algorithms and tables, lists the clinical findings under four main headings: the neonatal period and early infancy; acute present978-3-540-28785-8作者: aptitude 時間: 2025-3-23 08:15
G. Peter A. Smit,Jan Peter Rake,Hasan O. Akman,Salvatore DiMauro作者: Hla461 時間: 2025-3-23 12:44
Linda J. De Meirleir,Rudy Van Coster,Willy Lissens作者: 巨大沒有 時間: 2025-3-23 14:17 作者: Licentious 時間: 2025-3-23 21:37 作者: 鳴叫 時間: 2025-3-24 00:07
Disorders of the Pentose Phosphate Pathway, affects the related glucuronic acid pathway. Whereas the pentose phosphate pathway involves D stereoisomers, glucuronic acid gives rise to L-xylulose which is subsequently converted into xylitol and D-xylulose. Affected individuals excrete large amounts of L-xylulose in urine. This is a benign dis作者: 開玩笑 時間: 2025-3-24 03:24 作者: Isthmus 時間: 2025-3-24 10:11 作者: Nmda-Receptor 時間: 2025-3-24 10:49
Creatine Deficiency Syndromesmptoms in GAMT and AGAT deficiency. Reduction of GAA by additional dietary restriction of arginine (and supplemen tation of ornithine) appears to be of additional benefit for the long-term outcome of GAMT deficient patients. For SLC6A8 deficient patients no effective treatment is currently available作者: craven 時間: 2025-3-24 16:18
A Clinical Approach to Inherited Metabolic Diseases作者: antedate 時間: 2025-3-24 19:58 作者: POLYP 時間: 2025-3-25 01:39
Book 20064th editionrevious edition, the book can be used in two main ways. If the diagnosis is not known the reader should first refer to Chapter 1. This chapter, which includes a number of algorithms and tables, lists the clinical findings under four main headings: the neonatal period and early infancy; acute present作者: 小步走路 時間: 2025-3-25 05:58 作者: 木質(zhì) 時間: 2025-3-25 07:38
e viewed in terms of microeconomic efficiency and equity standards are now seen to have significant aggregative impacts. The trouble and the fascination, mixed liberally with considerable frustration, come from the absence of alternative paradigms that successfully blend the macro- and microeconomic作者: 鑒賞家 時間: 2025-3-25 14:37
Jean-Marie Saudubray,Isabelle Desguerre,Frédéric Sedel,Christiane Charpentiere viewed in terms of microeconomic efficiency and equity standards are now seen to have significant aggregative impacts. The trouble and the fascination, mixed liberally with considerable frustration, come from the absence of alternative paradigms that successfully blend the macro- and microeconomic作者: expansive 時間: 2025-3-25 17:42
Bridget Wilckenority—a higher federal authority in the portfolio of the Economics Ministry—subject to instructions in its individual rulings or can it invoke a certain independence? Or would a way round these issues even be to create a European regulator? Any attempt to mark off limits would be incomplete without 作者: IDEAS 時間: 2025-3-25 23:50 作者: 主講人 時間: 2025-3-26 02:25 作者: 加強防衛(wèi) 時間: 2025-3-26 07:51
John H. Walter,J. Ed Wraith93). Sika were introduced into the UK at around the turn of the century: with the first recorded introduction dated around 1860 and numerous further introductions documented up until the 1930s. Ratcliffe (1987a) offers a detailed review of the history of introduction and the subsequent spread of the作者: enchant 時間: 2025-3-26 10:09 作者: Ejaculate 時間: 2025-3-26 15:39 作者: meditation 時間: 2025-3-26 18:42 作者: 生銹 時間: 2025-3-26 23:55
Jean-Marie Saudubray,Isabelle Desguerre,Frédéric Sedel,Christiane Charpentierfinancial market performance. Both the trouble and the fascination come from much the same source. The central paradigms used to study and explain the largely separate macroanalytics and the microanalytics of money and banking, central banking and regulatory aspects of financial markets are no longe作者: emission 時間: 2025-3-27 04:18 作者: Small-Intestine 時間: 2025-3-27 09:19 作者: 健談的人 時間: 2025-3-27 09:26 作者: 背信 時間: 2025-3-27 17:37
John H. Walter,J. Ed Wraithof Asia, sika have been introduced successfully to much of central Europe (including Austria, the Czech Republic, France, Germany, Poland) as well as to New Zealand and a number of States within the USA (Maryland, Virginia, Texas). Where they have established successful feral populations, they have 作者: DIKE 時間: 2025-3-27 21:19
Pascale de Lonlay,Jean-Marie Saudubrayuct Accounts for computers has been revised to account for changes in the performance characteristics of computer systems (.), no comparable modification has been made to the price of semiconductor devices. Yet semiconductor devices incorporated in telecommunication equipment have been largely respo作者: 種植,培養(yǎng) 時間: 2025-3-27 23:04
The Glycogen Storage Diseases and Related Disorders. GSD I, III, VI, and IX present similarly with hypoglycemia, marked hepatomegaly, and growth retardation. GSD I is the most severe affecting both glycogen breakdown and gluconeogenesis. In GSD Ib there is additionally a disorder of neutrophil function. Most patients with GSD III have a syndrome tha作者: 蕁麻 時間: 2025-3-28 03:11
Disorders of Galactose Metabolism) deficiency. A complete or near-complete deficiency is life threatening with multiorgan involvement and long-term complications [.]. Partial deficiency is usually, but not always, benign. Uridine diphosphate galactose 4-epimerase (GALE) deficiency exists in at least two forms. The very rare profoun作者: Abominate 時間: 2025-3-28 06:56
Disorders of the Pentose Phosphate Pathwayce NADPH production is decreased, making erythrocytes vulnerable to oxidative stress. Drug-and fava bean-induced haemolytic anaemia is the main presenting symptom of this defect. As this is a haematological disorder it is not discussed further... has been described in one patient who suffered from a作者: 道學氣 時間: 2025-3-28 11:28 作者: PAN 時間: 2025-3-28 17:45
Persistent Hyperinsulinemic Hypoglycemiamportant cause of hypoglycemia in early infancy. The excessive secretion of insulin is responsible for profound hypoglycemia and requires aggressive treatment to prevent severe and irreversible brain damage. Onset can be in the neonatal period or later, with the severity of hypoglycemia decreasing w作者: 一回合 時間: 2025-3-28 19:14 作者: LEVY 時間: 2025-3-29 00:52
Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycleynthesis, defects in pyruvate metabolism and in the TCA cycle almost invariably affect the central nervous system. The severity and the different clinical phenotypes vary widely among patients and are not always specific, with the range of manifestations extending from overwhelming neonatal lactic a作者: 展覽 時間: 2025-3-29 05:32 作者: HEDGE 時間: 2025-3-29 10:25
Disorders of Ketogenesis and Ketolysisress. In defects of ketogenesis, decompensation leads to encephalopathy, with vomiting and a reduced level of consciousness, often accompanied by hepatomegaly. The biochemical features — hypoketotic hypoglycaemia, with or without hyperammonaemia — resemble those seen in fatty acid oxidation disorder作者: 怎樣才咆哮 時間: 2025-3-29 15:12 作者: 巨頭 時間: 2025-3-29 18:10 作者: 依法逮捕 時間: 2025-3-29 20:57
Springer-Verlag Berlin Heidelberg 2006作者: hazard 時間: 2025-3-30 00:26 作者: 上坡 時間: 2025-3-30 06:52 作者: magnanimity 時間: 2025-3-30 09:14 作者: 玩笑 時間: 2025-3-30 14:25 作者: GNAW 時間: 2025-3-30 18:34
Agriculture Under a Changing Climate,to consider clustering measurements such as cluster cohesion and separation, but also take other aspects, such as compactness, connectivity, variation among data elements, into consideration as well. Then, we aim to design a procedure to recommend three best solutions from the POF by using appropria作者: Obverse 時間: 2025-3-31 00:11 作者: 不足的東西 時間: 2025-3-31 03:17
Summaryon) was suggested by Holger Schmid-Sch?bein, in discussion, as a possibility for the future. Once resuspended in buffer, the test erythrocytes should be filtered immediately or, if there is any delay, they should not be suspended in Tris buffer since cell swelling will occur. HEPES and phosphate buf作者: 發(fā)現(xiàn) 時間: 2025-3-31 09:04
p-Type GaN,rgued to be Mg-displacement due to energy transfer from the electron beam: in the case of as-grown Mg-doped GaN, the Mg atoms occupy sites different from Ga sites where they are acceptors. Under the LEEBI treatment, the Mg atoms move to exactly occupy Ga sites.作者: 虛構(gòu)的東西 時間: 2025-3-31 10:27
Dispositive des Lernens978-3-658-19243-3Series ISSN 2626-2886 Series E-ISSN 2626-2894 作者: 反復無常 時間: 2025-3-31 15:17
Book 2024cleation coalescence on the static creep fracture mechanical properties in brittle solids. This book provides important theoretical support in evaluation for long-term lifetime in the brittle solid engineering (e.g., deep underground engineering, architecture engineering, aerospace engineering, and mechanical manufacturing engineering)..作者: Inflamed 時間: 2025-3-31 20:59
