作者: 規(guī)范要多 時間: 2025-3-21 23:59
Diagnostic Procedures: Function Tests and Postmortem Protocolor consumption of a nutrient for which a metabolic intolerance exists. As discussed in Chap. 1, if symptoms lead one to suspect the existence of an inborn metabolic disease, blood, urine, and cerebrospinal fluid should be investigated and/or stored in the correct way to perform the emergency protoco作者: epidermis 時間: 2025-3-22 01:42
Emergency Treatmentsns and management mainly depend on the physiopathology involved. However, this chapter focuses on the main age-related clinical presentations in neonates and children for which emergency treatment can be life saving. In neonates, four main clinical presentations can be identified.作者: 或者發(fā)神韻 時間: 2025-3-22 08:04
Psychosocial Care of the Child and Familye been identified. Increasingly, physicians have come to recognize the complexities of psychosocial care for children with inborn errors of metabolism. Although the special features of each condition dictate an individualized treatment approach, there are general issues of adaptation to the illness,作者: 群居動物 時間: 2025-3-22 10:43 作者: 注視 時間: 2025-3-22 16:02 作者: ARK 時間: 2025-3-22 20:21 作者: 準(zhǔn)則 時間: 2025-3-23 00:01 作者: 按等級 時間: 2025-3-23 02:57
Persistent Hyperinsulinemic Hypoglycemiaon of insulin is responsible for profound hypoglycemias, which require aggressive treatment to prevent severe and irreversible brain damage. A combination of glucose and glucagon is started as an emergency treatment as soon as a tentative diagnosis of PHHI is made. It is followed by treatment with d作者: palliative-care 時間: 2025-3-23 07:41
Disorders of Pyruvate Metabolism and the Tricarboxylic Acid Cycleynthesis, defects of pyruvate metabolism and of the TCA cycle almost invariably affect the central nervous system. The severity and patterns of clinical phenotypes vary tremendously among affected patients and are not specific, with the range of manifestations extending from overwhelming neonatal la作者: clarify 時間: 2025-3-23 12:57
Disorders of Fatty Acid Oxidationhreatening episodes of hypoketotic, hypoglycemic coma induced by fasting [1–3]. In some of the disorders, there may also be chronic skeletal-muscle weakness or acute exercise-induced rhabdomyolysis and acute or chronic cardiomyopathy. Recognition of the fatty acid-oxidation disorders is often diffic作者: 放逐某人 時間: 2025-3-23 15:34 作者: 上下連貫 時間: 2025-3-23 19:01
Defects of the Respiratory Chaintricted to the neuromuscular system but proceeds in all cells that contain mitochondria (Fig. 13.1). Most non-neuromuscular organs and tissues are, therefore, also dependent upon mitochondrial energy supply. Therefore, due to the twofold genetic origin of respiratory enzymes [nuclear DNA and mitocho作者: Inexorable 時間: 2025-3-24 02:02
The Hyperphenylalaninaemiaste normal ranges for blood concentrations: phenylalanine 35–120 μmol/1; tyrosine 40–130 μmol/1). Hyperphenylalaninaemia arises due to a block in the conversion of phenylalanine into tyrosine due to a defect in either the enzyme phenylalanine hydroxylase (98% of subjects) or in the metabolism of the 作者: abject 時間: 2025-3-24 05:34
Disorders of Tyrosine Metabolismver disease and renal tubular dysfunction with rickets. Hereditary tyrosinaemia type II (Richner-Hanhart syndrome) presents with keratitis and blisterous lesions of the palms and soles. Tyrosinaemia type III may be asymptomatic or associated with mental retardation. Hawkinsinuria may be asymptomatic作者: Irremediable 時間: 2025-3-24 07:10 作者: 矛盾 時間: 2025-3-24 12:36 作者: 不如樂死去 時間: 2025-3-24 17:00
Georges Van den Berghesure that their marketing spend produces reasonable returns. In my view, the field still lacks comprehensive models to link marketing spending and customer action. A number of customer-management authorities have developed customer life-cycle planning with conceptual notions of customer journey. Pro作者: 儀式 時間: 2025-3-24 22:12
Pascale de Lonlay,Jean-Marie Saudubrayegy. Traditional strategy development process applies tools and concepts like mission (defining the company’s purpose), vision (inspiring future results) and value statements to guide the company’s strategy development. However, due to changes and competition, a company cannot thrive by its internal作者: engender 時間: 2025-3-25 00:01
equently, the product-mix of companies, spread across the product categories and product lines, are stuffed with a variety of brands with marginal differentiation. Such business situations exhibit chaos of brands within the product line triggering cannibalization of brands within the product line of作者: 預(yù)知 時間: 2025-3-25 03:23 作者: 聲明 時間: 2025-3-25 07:34 作者: Coronary-Spasm 時間: 2025-3-25 13:04
A. A. M. Morrisequently, the product-mix of companies, spread across the product categories and product lines, are stuffed with a variety of brands with marginal differentiation. Such business situations exhibit chaos of brands within the product line triggering cannibalization of brands within the product line of作者: Adulterate 時間: 2025-3-25 19:52 作者: follicular-unit 時間: 2025-3-25 22:56
Eli Anne Kvittingen,Elisabeth Holmeal strategy courses as well as professionals.Includes origin.Innovative digital technologies are forcing companies to rethink how they compete. The focus of digital innovation in business has shifted from internal transformation within firms to their market interface and ecosystems.?While opportunit作者: gratify 時間: 2025-3-26 02:48
Book 20003rd editionmic hypoglycemia, a combined chapter of pediatricians, biochemists and dieticians it now also on disorders of ketogenesis and ketolysis, a chapter on disorders of proline and serine metabolism, a chapter encompasses neurologists, internists, geneticists and psychosocial workers. This reflects the fa作者: 撫慰 時間: 2025-3-26 06:07 作者: Meander 時間: 2025-3-26 09:20 作者: 過份好問 時間: 2025-3-26 13:36
The Hyperphenylalaninaemias variation in genotype and phenotype, the gteat majority of affected subjects are at risk of intellectual and neurological impairments and handicaps, which can be prevented by introduction of strictly controlled treatment within a few weeks of birth (a phenylalanine-restricted diet with the addition作者: 磨碎 時間: 2025-3-26 19:33 作者: 壓倒 時間: 2025-3-27 00:11 作者: 山間窄路 時間: 2025-3-27 01:49
y, a central notion of communitarianism that is a modern version of virtue ethics. Next, I examine the positive and negative aspects of competition as an ideal type in economics and political philosophy with regard to trust. Lastly, I examine the relationship between trust and community from the vie作者: 痛苦一生 時間: 2025-3-27 06:03
ed problem-solving, offers them an accessible introduction to modeling technology and the distributed coordination control of redundant robots, and equips them to use these technologies and approaches to solve concrete scientific and engineering problems..作者: 行業(yè) 時間: 2025-3-27 12:17
Georges Van den Berghecustomer management as an end-to-end process that begins with improving customer perceptions of the company that, in turn, induces customers to take a journey with the company which will eventually see the relationship terminated for one reason or another.作者: 不愿 時間: 2025-3-27 13:52 作者: 開始發(fā)作 時間: 2025-3-27 18:11 作者: 專橫 時間: 2025-3-28 01:34 作者: Invertebrate 時間: 2025-3-28 03:03
C. A. Stanleyce, which makes it difficult for the companies to create strong brands and develop effective marketing strategies. Categorically differentiated product lines in a company significantly contribute to brand proliferation with an effective portfolio strategy. Developing a brand portfolio strategy invol作者: intuition 時間: 2025-3-28 09:48
A. A. M. Morrisce, which makes it difficult for the companies to create strong brands and develop effective marketing strategies. Categorically differentiated product lines in a company significantly contribute to brand proliferation with an effective portfolio strategy. Developing a brand portfolio strategy invol作者: 表被動 時間: 2025-3-28 12:51 作者: Morsel 時間: 2025-3-28 18:05
John Fernandes (Professor Emeritus of Pediatrics),Main feature is the strong emphasis on clinical presentation and treatment in acute and chronic situation.Clinical approach is the starting point for each chapter.Reference to diagnostic options.Inclu作者: Euthyroid 時間: 2025-3-28 20:00 作者: Jocose 時間: 2025-3-29 00:43 作者: 向外才掩飾 時間: 2025-3-29 06:59 作者: 諄諄教誨 時間: 2025-3-29 10:24
Emergency Treatmentsns and management mainly depend on the physiopathology involved. However, this chapter focuses on the main age-related clinical presentations in neonates and children for which emergency treatment can be life saving. In neonates, four main clinical presentations can be identified.作者: PHON 時間: 2025-3-29 14:05
Springer-Verlag Berlin Heidelberg 2000作者: 抗原 時間: 2025-3-29 15:50
Persistent Hyperinsulinemic Hypoglycemiasponds to a functional abnormality of insulin secretion in the whole pancreas and involves several genes with different transmissions. The therapeutic outcome differs for both histological entities, as does genetic counseling.作者: Pseudoephedrine 時間: 2025-3-29 22:38
Disorders of Tyrosine Metabolisme into DOPA-quinone; the deficiency of tyrosine hydroxylase, the first enzyme in the synthesis of dopamine from tyrosine; and the deficiency of aromatic .-amino acid decarboxylase, which also affects tryptophan metabolism. The latter two disorders are covered in Chap. 26.作者: engagement 時間: 2025-3-30 00:18 作者: Madrigal 時間: 2025-3-30 06:23
point for each chapter.Reference to diagnostic options.IncluFive years have passed since the second edition of With respect to the contents of the book, most chapters have been rewritten or extensively revised. A Inborn Metabolic Diseases; Diagnosis and Treatment was published. The third edition, no作者: obnoxious 時間: 2025-3-30 09:05 作者: Eosinophils 時間: 2025-3-30 13:10 作者: 吼叫 時間: 2025-3-30 19:19 作者: LIEN 時間: 2025-3-30 23:52 作者: 弄皺 時間: 2025-3-31 02:45 作者: CODA 時間: 2025-3-31 07:42
Disorders of Galactose Metabolismssical galactosemia. The more frequent partial deficiency is benign. Review articles are recommended for detailed information [1–3]. Fanconi-Bickel syndrome (Chap. 6) and portosystemic venous shunting are congenital errors of galactose transport leading to hypergalactosemia.作者: HAWK 時間: 2025-3-31 12:13
Disorders of Fructose Metabolismctly speaking, it is not a defect of the specialized fructose pathway. It is manifested by the appearance of hypoglycemia and lactic acidosis (neonatally or during fasting) and may also be life-threatening.作者: Tinea-Capitis 時間: 2025-3-31 14:40
The Glycogen-Storage Diseasesans that are most seriously involved. GSDs are denoted either by the deficient enzyme or by a type number that reflects the historical sequence of elucidation. The latter presentation is used in this chapter. The main characteristics of each GSD type are summarized in Table 6.1.作者: 狗舍 時間: 2025-3-31 18:33
re accurate computation of the Miller factor is derived. To achieve both computational efficiency and accuracy, a variety of mechanisms for pruning the search space are detailed, including: .-Spatial pruning - reducing aggressors to those in physical proximity, .-Electrical pruning - reducing aggressors by el978-1-4757-7949-3978-1-4020-8092-0作者: LAY 時間: 2025-3-31 23:52
