標(biāo)題: Titlebook: Studies in Inherited Metabolic Disease; Prenatal and Perinat G. M. Addison,J. M. Connor,R. J. Pollitt Book 1989 SSIEM and Kluwer Academic P [打印本頁(yè)] 作者: 引起極大興趣 時(shí)間: 2025-3-21 18:43
書(shū)目名稱(chēng)Studies in Inherited Metabolic Disease影響因子(影響力)
書(shū)目名稱(chēng)Studies in Inherited Metabolic Disease影響因子(影響力)學(xué)科排名
書(shū)目名稱(chēng)Studies in Inherited Metabolic Disease網(wǎng)絡(luò)公開(kāi)度
書(shū)目名稱(chēng)Studies in Inherited Metabolic Disease網(wǎng)絡(luò)公開(kāi)度學(xué)科排名
書(shū)目名稱(chēng)Studies in Inherited Metabolic Disease被引頻次
書(shū)目名稱(chēng)Studies in Inherited Metabolic Disease被引頻次學(xué)科排名
書(shū)目名稱(chēng)Studies in Inherited Metabolic Disease年度引用
書(shū)目名稱(chēng)Studies in Inherited Metabolic Disease年度引用學(xué)科排名
書(shū)目名稱(chēng)Studies in Inherited Metabolic Disease讀者反饋
書(shū)目名稱(chēng)Studies in Inherited Metabolic Disease讀者反饋學(xué)科排名
作者: 字的誤用 時(shí)間: 2025-3-21 21:10 作者: Affirm 時(shí)間: 2025-3-22 02:01 作者: Generic-Drug 時(shí)間: 2025-3-22 07:22 作者: diskitis 時(shí)間: 2025-3-22 10:11
Prenatal Diagnosis of Disorders of Galactose Metabolismvillus biopsies and by galactitol estimation in amniotic fluid supernatant. Although the long-term outcome of patients treated on a galactose-restricted diet is recognized to be unsatisfactory, prenatal diagnosis is only rarely performed with a view to terminating the affected pregnancy.作者: MOT 時(shí)間: 2025-3-22 16:15
Prefacesampling methods and genetic in relation to techniques for analysis. Against this background, the aim of the Symposium was to provide an overview of the current status of prenatal and perinatal diagnosis of inborn errors of metabolism.作者: Hyperlipidemia 時(shí)間: 2025-3-22 19:34
The Salience of Garrod’s ‘Molecular Groupings’ and ‘Inborn Factors in Disease’nzymes are normally homopolymeric; (3) in clinical severity of ‘monogenic’ disease (e.g. familial hypercholesterolaemia and muscular dystrophy) when variation is not explained by allelic heterogeneity. The associated chemical individuality in each case can be used to identify risk and thus as a mode of predictive medicine.作者: 嫻熟 時(shí)間: 2025-3-23 01:16 作者: 輕率的你 時(shí)間: 2025-3-23 03:04
A Clinician’s View of the Mass Screening of the Newborn for Inherited Diseases: Current Practice and. A simple tool for early detection is now available and the population afflicted with a mutant gene which causes major health problems should receive special attention from its government. It is too early to offer any comment about cystic fibrosis screening; further developments must be awaited.作者: Conquest 時(shí)間: 2025-3-23 06:41
A Clinical Biochemist’s View of the Investigation of Suspected Inherited Metabolic Diseasevidual patient. A full metabolic laboratory investigation programme is described and illustrated with some examples of abnormal metabolite patterns. Diagnostic results over a 2-year period are presented.作者: Oafishness 時(shí)間: 2025-3-23 13:17
Prospects for Gene Therapy Now and in the Futuretion since it will involve the addition of corrective genes to the host cell genome. It may only be used to treat recessively inherited disorders. Prospects for the future include the use of homologous recombination to correct or replace defective genes, allowing the treatment of dominantly inherited diseases.作者: 縫紉 時(shí)間: 2025-3-23 16:19
Gene Mapping of Mineral Metabolic Disordersave been mapped. The molecular and genetic studies which localized these disease genes are described and the implications of this gene mapping in genetic counselling and in further elucidation of the mineral metabolic defects are discussed.作者: NIB 時(shí)間: 2025-3-23 18:07
Book 1989lity in all age groups. At present, effective therapy is available for relatively few genetic conditions and prenatal diagnosis is an important option for couples at high risk. The task of providing prenatal diagnosis for these couples requires a team approach between clinicians and scientists, and 作者: reflection 時(shí)間: 2025-3-23 22:29 作者: Repatriate 時(shí)間: 2025-3-24 03:39
Family Influences on A. E. Garrod’s Thinkingnces before entering St. Bartholomew’s Hospital to become qualified in medicine in 1884. Apart from a stimulating year spent in Vienna where he learned about some of the new scientific techniques in medicine, he spent the next 7 years working in his father’s West End practice. But Archibald Garrod s作者: Facet-Joints 時(shí)間: 2025-3-24 09:34 作者: 束縛 時(shí)間: 2025-3-24 11:58
Clinical Approach to Inherited Metabolic Diseases in the Neonatal Period: A 20-year Surveyor of intermediary metabolism. Many of these conditions can be diagnosed clinically with the aid of simple laboratory investigations. Since a substantial number of these diseases respond well to treatment but may otherwise be fatal, and in order to assure adequate prenatal diagnosis in subsequent pr作者: monochromatic 時(shí)間: 2025-3-24 17:27
Acute Metabolic Encephalopathy: A Review of Causes, Mechanisms and Treatmentormed during the acute illness (blood sugar, blood gases, plasma ammonia, blood lactate, plasma ketones, plasma amino acids, liver function tests, and urinary organic acids) should identify those patients in whom a metabolic disorder is likely. More detailed studies may be needed to establish a prec作者: MITE 時(shí)間: 2025-3-24 22:03
A Clinician’s View of the Mass Screening of the Newborn for Inherited Diseases: Current Practice andongenital hypothyroidism. The case for mass screening for galactosaemia and for maple syrup urine disease is not very strong; they could be considered under the heading of ‘urgent screening of the sick newborn’. It is difficult to find good arguments for mass screening for congenital adrenal hyperpl作者: ascetic 時(shí)間: 2025-3-24 23:43
A Clinical Biochemist’s View of the Investigation of Suspected Inherited Metabolic Disease it not feasible and inefficient to run a full metabolic investigation programme in every new patient suspected of inherited metabolic disease. An application form for metabolic investigation is described, which can be used to collect clinical information relevant to metabolic disease. On the basis 作者: Offbeat 時(shí)間: 2025-3-25 07:14 作者: 公社 時(shí)間: 2025-3-25 08:08
Chorionic Villus Sampling: Diagnostic Uses and Limitations of Enzyme Assayserties to the enzyme in cultured fibroblasts; (2) isoenzyme patterns in villi were similar to those in fibroblasts for five lysosomal enzymes but different for aryl sulphatases; (3) control ranges were determined for 12 enzymes in abortion villi and for 21 enzymes in biopsy villi, values tending to 作者: Dorsal 時(shí)間: 2025-3-25 11:56
Prenatal and Perinatal Diagnosis of Peroxisomal Disorders can be classified into three groups: (1) disorders of peroxisome biogenesis with a generalized loss of peroxisomal functions (Zellweger syndrome, neonatal adrenoleukodystrophy, infantile Refsum disease, hyperpipecolic acidaemia); (2) disorders with a loss of multiple peroxisomal functions (rhizomel作者: 明確 時(shí)間: 2025-3-25 18:51
Prenatal Diagnosis and Prevention of Inherited Abnormalities of Collagen arterial aneurysms (Ehlers Danlos syndrome type IV). A sizeable proportion of these disorders have detectable abnormalities by conventional protein chemistry, immunofluorescence, or more sophisticated DNA analysis. Everyone of them with specific defects or with linkage to appropriate gene markers i作者: Metamorphosis 時(shí)間: 2025-3-25 20:38
Prenatal Diagnosis of Duchenne Muscular Dystrophy: A Three-year Experience in a Rapidly Evolving Fienne muscular dystrophy with flanking DNA probes was described, which made carrier detection possible in a limited number of cases. The first published prenatal diagnosis for Duchenne muscular dystrophy dates from 1985. DNA-analysis for Duchenne muscular dystrophy and Becker muscular dystrophy has be作者: Morphine 時(shí)間: 2025-3-26 01:24
Prospects for Gene Therapy Now and in the Futured for the efficient introduction of gene sequences into the pluripotential stem cells of the haematopoietic system and our increased understanding of gene-regulatory mechanisms should allow therapeutic gene expression levels to be obtained..Gene therapy should, at present, be termed gene supplementa作者: 排斥 時(shí)間: 2025-3-26 08:17
Prenatal Diagnosis of Disorders of Galactose Metabolismal diagnosis for this disorder may be carried out by galactose-1-phos-phate uridyl transferase assay in cultured amniotic fluid cells or in chorionic villus biopsies and by galactitol estimation in amniotic fluid supernatant. Although the long-term outcome of patients treated on a galactose-restrict作者: murmur 時(shí)間: 2025-3-26 10:51 作者: FLAGR 時(shí)間: 2025-3-26 14:51 作者: 圣人 時(shí)間: 2025-3-26 18:01 作者: oxidant 時(shí)間: 2025-3-26 21:27
Preface to Short Communicationsy for the Study of Inborn Errors of Metabolism held in Glasgow, 6–9th September 1988. The main topic of the symposium was pre- and perinatal diagnosis. The contributions of the invited speakers were complemented by many of the oral and poster free communications which dealt with pre- or perinatal di作者: 等級(jí)的上升 時(shí)間: 2025-3-27 02:32
and mortality in all age groups. At present, effective therapy is available for relatively few genetic conditions and prenatal diagnosis is an important option for couples at high risk. The task of providing prenatal diagnosis for these couples requires a team approach between clinicians and scient作者: ATRIA 時(shí)間: 2025-3-27 05:20
Genetic Aspects of Prenatal Diagnosiserious genetic conditions. This is exemplified by the impact of the maternal serum α-fetoprotein screening programme for neural tube defects and is under active development for autosomal aneuploidies and certain other major congenital malformations. These screening programmes will result in a reduce作者: Hyperlipidemia 時(shí)間: 2025-3-27 12:26 作者: 杠桿支點(diǎn) 時(shí)間: 2025-3-27 14:19
Prenatal and Perinatal Diagnosis of Peroxisomal Disordersand acatalasaemia..A variety of techniques is available now for the prenatal diagnosis of peroxisomal disorders in the first or second trimester of gestation. Prenatal diagnosis was performed by us in 70 pregnancies at risk for a disorder of peroxisome biogenesis, three for rhizomelic chondrodysplas作者: 助記 時(shí)間: 2025-3-27 19:48 作者: Indecisive 時(shí)間: 2025-3-28 00:53
Prenatal Diagnosis of Duchenne Muscular Dystrophy: A Three-year Experience in a Rapidly Evolving Fieprobes and/or technologies has necessitated constant reappraisal of many families to derive maximum information. During the past 3 years we applied prenatal diagnosis for Duchenne and Becker muscular dystrophies with DNA-analysis on 53 male fetuses in 47 families. Twenty-two healthy male babies were作者: Ankylo- 時(shí)間: 2025-3-28 05:46
Disorders of Mitochondrial β-Oxidation: Prenatal and Early Postnatal Diagnosis and their Relevance t experience in prenatal diagnosis of this group of disorders except for glutaric aciduria type II. Single prenatal diagnoses of medium-chain acyl-CoA dehydrogenase deficiency and of an incompletely characterized defect of medium-chain fatty acid oxidation have been performed.作者: 后來(lái) 時(shí)間: 2025-3-28 06:37
Book 1989erviews and free communications in either oral or poster form. The invited overviews, as can be seen from this publication, covered a wide range, from accepted methods for neonatal diagnosis and screening to newer techniques for prenatal diagnosis and likely future developments with respect to gene 作者: frozen-shoulder 時(shí)間: 2025-3-28 12:57 作者: 贊美者 時(shí)間: 2025-3-28 18:08
lescents in comparison to adults. .This book fills the need for a reference to this valuable information and benefits a wide range of professionals, including educators, clinicians, psychologists, students, and many other working with children and adolescents. .978-94-017-8253-1978-94-007-6398-2作者: 喃喃訴苦 時(shí)間: 2025-3-28 21:12
G. M. Addison,J. M. Connor,R. A. Harkness,R. J. Pollittlescents in comparison to adults. .This book fills the need for a reference to this valuable information and benefits a wide range of professionals, including educators, clinicians, psychologists, students, and many other working with children and adolescents. .978-94-017-8253-1978-94-007-6398-2作者: entrance 時(shí)間: 2025-3-29 00:04 作者: 字謎游戲 時(shí)間: 2025-3-29 04:08 作者: 奴才 時(shí)間: 2025-3-29 08:23
J. M. Saudubray,H. Ogier,J. P. Bonnefont,A. Munnich,A. Lombes,F. Hervé,G. Mitchel,B. Poll Thé,N. Spelescents in comparison to adults. .This book fills the need for a reference to this valuable information and benefits a wide range of professionals, including educators, clinicians, psychologists, students, and many other working with children and adolescents. .978-94-017-8253-1978-94-007-6398-2作者: 容易懂得 時(shí)間: 2025-3-29 12:24
R. Surtees,J. V. Leonardlescents in comparison to adults. .This book fills the need for a reference to this valuable information and benefits a wide range of professionals, including educators, clinicians, psychologists, students, and many other working with children and adolescents. .978-94-017-8253-1978-94-007-6398-2作者: Gastric 時(shí)間: 2025-3-29 16:47
I. B. Sardharwalla,J. E. Wraithlescents in comparison to adults. .This book fills the need for a reference to this valuable information and benefits a wide range of professionals, including educators, clinicians, psychologists, students, and many other working with children and adolescents. .978-94-017-8253-1978-94-007-6398-2作者: Chagrin 時(shí)間: 2025-3-29 20:25
W. Blom,J. G. M. Huijmans,G. B. van den Berglescents in comparison to adults. .This book fills the need for a reference to this valuable information and benefits a wide range of professionals, including educators, clinicians, psychologists, students, and many other working with children and adolescents. .978-94-017-8253-1978-94-007-6398-2作者: 明智的人 時(shí)間: 2025-3-30 03:01 作者: 粉筆 時(shí)間: 2025-3-30 04:16
M. J. Whittle,D. H. Gilmore,M. B. McNaylescents in comparison to adults. .This book fills the need for a reference to this valuable information and benefits a wide range of professionals, including educators, clinicians, psychologists, students, and many other working with children and adolescents. .978-94-017-8253-1978-94-007-6398-2作者: 不易燃 時(shí)間: 2025-3-30 08:14
B. Fowler,L. Giles,A. Cooper,I. B. Sardharwallalescents in comparison to adults. .This book fills the need for a reference to this valuable information and benefits a wide range of professionals, including educators, clinicians, psychologists, students, and many other working with children and adolescents. .978-94-017-8253-1978-94-007-6398-2作者: 朝圣者 時(shí)間: 2025-3-30 13:18
R. B. H. Schutgens,R. J. A. Wanders,H. S. A. Heymans,G. Schrakamp,H. Van Den Bosch,J. M. Tagerlescents in comparison to adults. .This book fills the need for a reference to this valuable information and benefits a wide range of professionals, including educators, clinicians, psychologists, students, and many other working with children and adolescents. .978-94-017-8253-1978-94-007-6398-2作者: 極微小 時(shí)間: 2025-3-30 20:37 作者: 眉毛 時(shí)間: 2025-3-30 21:52
E. Bakker,E. J. Bonten,H. Veenema,J. T. den Dunnen,P. M. Grootscholten,G. J. B. van Ommen,P. L. PearIn particular the chapter offers a critical examination of how this specific policy network is proposing to mine and analyse digital data from learners’ online networked activities in order to predict and pre-empt their future progress and outcomes, as part of a social and technical imaginary of the作者: 無(wú)力更進(jìn) 時(shí)間: 2025-3-31 02:37
R. J. Akhurst papers has been a combined editorial and collaborative process based on our own initial review of the conference papers and notes from the conference, as well as an informal survey where we asked conference participants to recommend three papers they found particularly interesting. The papers for t作者: 狂熱語(yǔ)言 時(shí)間: 2025-3-31 07:44
J. B. Holton,J. T. Allen,M. G. Gillette concept of primary contexts, I argue for a practice-grounded intermediary position which makes it possible to investigate empirically how different practices take on the significance of ‘rope’ or ‘container’ to a person at different points in his/her life. The phenomena of motivation and engagemen作者: 現(xiàn)任者 時(shí)間: 2025-3-31 10:31 作者: 發(fā)怨言 時(shí)間: 2025-3-31 16:14
R. J. Pollittconomy has become even more acute after the 1997 handover and the Asian financial crisis in 1997–1998, when sustain-ability of Hong Kong’s finance-centered economy was questioned. Being too heavily dependent on finance and trade, the role of the government in promoting research and development (R&D)作者: ESO 時(shí)間: 2025-3-31 18:30 作者: Climate 時(shí)間: 2025-3-31 23:29 作者: 閑蕩 時(shí)間: 2025-4-1 04:04 作者: Glutinous 時(shí)間: 2025-4-1 08:03
978-94-010-6970-0SSIEM and Kluwer Academic Publishers 1989作者: Gnrh670 時(shí)間: 2025-4-1 14:14 作者: 大約冬季 時(shí)間: 2025-4-1 14:53
https://doi.org/10.1007/978-94-009-1069-0Galactose; Glycogen; enzymes; gene therapy; metabolism; transplantation作者: 數(shù)量 時(shí)間: 2025-4-1 19:54 作者: 縮減了 時(shí)間: 2025-4-2 01:01
G. M. Addison,J. M. Connor,R. A. Harkness,R. J. Pollitticacious positive psychological models of intervention to in.This book presents recent positive psychological research, applications and interventions being used among adolescents and children. Currently there is a wave of change occurring whereby educators, and others working with children and adol作者: 背叛者 時(shí)間: 2025-4-2 04:42
S. C. Garrodicacious positive psychological models of intervention to in.This book presents recent positive psychological research, applications and interventions being used among adolescents and children. Currently there is a wave of change occurring whereby educators, and others working with children and adol作者: Calculus 時(shí)間: 2025-4-2 07:52
