派博傳思國際中心

標(biāo)題: Titlebook: Inborn Metabolic Diseases; Diagnosis and Treatm John Fernandes (Professor of Pediatrics),Jean-Mari Book 19901st edition Springer-Verlag Ber [打印本頁]

作者: Exacting    時(shí)間: 2025-3-21 16:04
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(xué)科排名




書目名稱Inborn Metabolic Diseases網(wǎng)絡(luò)公開度




書目名稱Inborn Metabolic Diseases網(wǎng)絡(luò)公開度學(xué)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(xué)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(xué)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(xué)科排名





作者: 人類學(xué)家    時(shí)間: 2025-3-21 23:23

作者: Organization    時(shí)間: 2025-3-22 03:08

作者: sphincter    時(shí)間: 2025-3-22 05:51
d auction lies that banks are only allowed to make one off, and do not receive any information about the rival’s bid. For large firms this is not vent realistic. In reality, the interest rate is determined o a process involving repeated bidding and information revelation. The precise features of thi
作者: GEM    時(shí)間: 2025-3-22 09:02
N. Kono,S. Taruif the corporations that were once part of the public sector. Before the privatisation programme began with the first Thatcher administration in 1979 the public sector in Britain included all the great utilities - electricity, gas, postal services, telecommunications, rail and water. Over the post-Wa
作者: blithe    時(shí)間: 2025-3-22 15:09

作者: 溺愛    時(shí)間: 2025-3-22 19:08

作者: surrogate    時(shí)間: 2025-3-23 00:27
N. Kono,S. Taruil ideal based on the definitional extremes of those dimensions. The canonical case of morphotactic competition is one in which (i) two rules of affixation are both eligible to apply in the realization of some word form .; (ii) the set of morphosyntactic properties realized by one rule is a subset of
作者: lymphedema    時(shí)間: 2025-3-23 04:42

作者: beta-carotene    時(shí)間: 2025-3-23 06:16

作者: 放肆的你    時(shí)間: 2025-3-23 13:28
K. Baerlochert play a role in the case of doublets are then discussed and it is shown that they lead us to distinguish lexemes from lexical entries, the latter possibly subsuming the former. Among these dimensions, the type of the construction headed by the base verb is the crucial one since it determines the me
作者: 用樹皮    時(shí)間: 2025-3-23 17:09
ng’s provision of demand-related information (DRI) constitutes a major pillar in this context. Almost “by default“ exists the presumption that provision and usage of DRI leads to more satisfied consumers, more products, and, subsequently, higher profits. Remarkably, very little research has investig
作者: 賄賂    時(shí)間: 2025-3-23 19:28

作者: 非實(shí)體    時(shí)間: 2025-3-23 22:40

作者: GENRE    時(shí)間: 2025-3-24 05:12

作者: 單純    時(shí)間: 2025-3-24 08:14
Selection of Tissue for the Enzyme Assaymental dependency. In a few instances the expression of multiple forms of enzymes in tissues or cells produces more or less complex patterns. Thus it is not possible to select one particular tissue or cell type in which diagnoses can be proven or ruled out by enzymic investigations. However, general
作者: constitute    時(shí)間: 2025-3-24 14:02

作者: 救護(hù)車    時(shí)間: 2025-3-24 16:02

作者: 含水層    時(shí)間: 2025-3-24 22:16

作者: palliate    時(shí)間: 2025-3-25 00:19
Muscle Glycogenosesxercise interolerance. This is associated with muscle stiffness, weakness, and pain on exertion. Semi-ischemic forearm exercise or bicycle ergometer exercise discloses no elevation of the venous lactate level, but marked increases of serum creatine kinase, ammonia, inosine, and hypoxanthine. These p
作者: 冷淡一切    時(shí)間: 2025-3-25 07:13
Disorders of Galactose Metabolismscovered either through newborn screening for hypergalactosemia, or by the chance finding of reducing substance in urine, or by selective urine screening for galactose in infants or older persons examined for nuclear cataracts. In the undiagnosed newborn drinking milk, cataracts develop insidiously
作者: Extricate    時(shí)間: 2025-3-25 11:11
Disorders of Fructose Metabolismance (HFI). In the third, fructose-1,6-diphosphatase deficiency, gluconeogenesis is severely impaired; this defect will be described elsewhere..In this chapter the two inherited abnormalities of fructose metabolism are described: deficiency of fructokinase and deficiency of fructose-1-phosphate aldo
作者: Creatinine-Test    時(shí)間: 2025-3-25 14:43
Disorders of Pyruvate Metabolism, the Citric Acid Cycle, and the Respiratory Chaine the rule rather than the exception with these diverse syndromes. The clinical syndromes may present predominantly as encephalopathies, myopathies, or encephalomyopathies. The biochemical deficiency may be complete with no detectable cross-reacting material (CRM) by immunoblot techniques, or the de
作者: septicemia    時(shí)間: 2025-3-25 17:06
Phenylketonuria and Hyperphenylalaninemia characteristic “musty” odor. Today, most neonates are screened for hyperphenylalaninemia, which includes PKU. The incidence of PKU is on average one in 10 000 births. A low-phenylalanine diet introduced within the first weeks of life prevents the symptoms of this disease provided the treatment is w
作者: 四溢    時(shí)間: 2025-3-25 23:34
Maternal Phenylketonuriauired to ensure normal intellectual development in the offspring is not yet available, but preconception diet can greatly reduce major defects of organo-genesis and improve the later intellectual performance. To keep the fetal phenylalanine below 500 μmo1/1 it is necessary to reduce the mother’s phe
作者: anaphylaxis    時(shí)間: 2025-3-26 03:58

作者: Type-1-Diabetes    時(shí)間: 2025-3-26 07:54

作者: 團(tuán)結(jié)    時(shí)間: 2025-3-26 12:18

作者: Triglyceride    時(shí)間: 2025-3-26 12:40

作者: 詼諧    時(shí)間: 2025-3-26 20:34
Disorders of Galactose Metabolismt treatment. Infants who remain undiagnosed develop symptoms and signs of liver and kidney failure and succumb to sepsis. Survivors develop cataracts and mental impairment. Diagnosis is suggested by the presence of reducing substance in the urine of the fed newborn, and it is made by enzyme assay on
作者: 高度贊揚(yáng)    時(shí)間: 2025-3-26 23:50
Disorders of Pyruvate Metabolism, the Citric Acid Cycle, and the Respiratory Chain. The genetic defect commonly affects the nuclear genome, and the inherited pattern is autosomal or X-linked recessive. These patterns characterize pyruvate carboxylase deficiency, pyruvate dehydrogenase deficiency, lactate dehydrogenase deficiency, fumarase deficiency, and several of the defects in
作者: 愛社交    時(shí)間: 2025-3-27 03:41
Phenylketonuria and Hyperphenylalaninemiahenylalanine to tyrosine. The defect causes accumulation of phenylalanine and its metabolites, e. g., phenylpyruvate, leading to phenylketonuria and phenylacetate responsible for a “musty” odor in untreated patients. Different mutations in the gene coding for phenylalanine hydroxylase correlate with
作者: 大量    時(shí)間: 2025-3-27 08:42
Book 19901st editionthogenesis of inborn errors of metabolism are emphasized. Both books reveal the attitudes and methods that characterize this branch of medicine and of medical genetics in particular: both also - whether they intended to or not - disclose a gap between theory and practice in the discipline.
作者: fabricate    時(shí)間: 2025-3-27 12:50
ses and pathogenesis of inborn errors of metabolism are emphasized. Both books reveal the attitudes and methods that characterize this branch of medicine and of medical genetics in particular: both also - whether they intended to or not - disclose a gap between theory and practice in the discipline.978-3-662-02613-7
作者: LUDE    時(shí)間: 2025-3-27 14:28
staken regulatory policies, the clash between the early hype and the pioneering realities of the mobile Internet. But these are generalities that barely scratch the surface. The devil is in the details. And it is these details that .Competition for the Mobile Internet. addresses. .978-1-4613-4878-8978-1-4419-9290-1
作者: upstart    時(shí)間: 2025-3-27 18:12
staken regulatory policies, the clash between the early hype and the pioneering realities of the mobile Internet. But these are generalities that barely scratch the surface. The devil is in the details. And it is these details that .Competition for the Mobile Internet. addresses. .978-1-4613-4878-8978-1-4419-9290-1
作者: Parallel    時(shí)間: 2025-3-27 23:25
J.-M. Saudubray,H. Ogier communicate the offer for example by showing the credit comma. In fact, they do not even need to (lo so. We also obtain an open bid setting when a hank, realizing that its credit offer will not be accepted, makes a second offer. Of course in order to obtain the perfect analogy of an open bid auctio
作者: omnibus    時(shí)間: 2025-3-28 05:08
communicate the offer for example by showing the credit comma. In fact, they do not even need to (lo so. We also obtain an open bid setting when a hank, realizing that its credit offer will not be accepted, makes a second offer. Of course in order to obtain the perfect analogy of an open bid auctio
作者: 隨意    時(shí)間: 2025-3-28 09:21
N. Kono,S. Taruiour government had swept into power in 1945. The War-time government had already assumed full control of the industry in 1942, and the Reid Committee, reporting in 1945, drew attention to serious weaknesses resulting from decades of poor management and underinvestment. The Committee called for drast
作者: scrutiny    時(shí)間: 2025-3-28 13:45
R. Bergerour government had swept into power in 1945. The War-time government had already assumed full control of the industry in 1942, and the Reid Committee, reporting in 1945, drew attention to serious weaknesses resulting from decades of poor management and underinvestment. The Committee called for drast
作者: neutral-posture    時(shí)間: 2025-3-28 16:42
J. Fernandes, and a different meaning in others. A hypothesis is proposed to respond to this challenge (the Repartition Hypothesis) but the readers are provided with a lot of examples showing that even when nominalizations in . and . share the same meanings, they do not take exactly the same set of complements.
作者: 無能力    時(shí)間: 2025-3-28 20:58
N. Kono,S. Tarui cases, the single rule application overrides that of the sequence of rules; in others, the sequence of rule applications overrides that of the single rule. Instances of both kinds are widely observable; Swahili verb inflection exemplifies both patterns. Various approaches to this sort of deviation
作者: organic-matrix    時(shí)間: 2025-3-29 02:29
R. Gitzelmann with color adjectives (. ‘red as the fire’) vs. the corresponding compound pattern (. ‘fire-like red’) and (ii) irreversible binomials (. ‘safe and sound’) vs. coordinate compounds of the . ‘deaf-mute’ type. The findings show that even when competition occurs between specific lexical items belongin
作者: 四指套    時(shí)間: 2025-3-29 06:01
M. Odièvre there is competition between fully transparent suffixations (degree 1) without any pattern blocking or lexical blocking, because such diminutives are mainly formed and used for pragmatic reasons and never for the purpose of lexical enrichment. Since productivity, availability and profitability of d
作者: 誘導(dǎo)    時(shí)間: 2025-3-29 10:10

作者: 奇思怪想    時(shí)間: 2025-3-29 14:09
ntly, however, I do not find significant impacts of DRI on firms’ profitability..These findings suggest that managers tend to over-act. By over-acting I mean that managers pursue too many new product activities that only seemingly amount to new product opportunities. Importantly, such over-acting di
作者: 干涉    時(shí)間: 2025-3-29 19:13

作者: 要塞    時(shí)間: 2025-3-29 23:46
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作者: 沉默    時(shí)間: 2025-3-30 02:10
Disorders of GluconeogenesisGluconeogenesis is the formation of glucose from noncarbohydrate precursors such as lactate, pyruvate, glycerol, and certain amino acids. It is a continuous process important for maintaining glucose homeostasis during fasting.
作者: 大量殺死    時(shí)間: 2025-3-30 08:07
https://doi.org/10.1007/978-3-662-02613-7Aminos?uren; Kohlenhydrate; Lipidstoffwechsel; Neurotransmitter; Stoffwechselst?rungen; diagnosis; genes; g
作者: Nmda-Receptor    時(shí)間: 2025-3-30 10:21

作者: CLAN    時(shí)間: 2025-3-30 15:56





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