Carbohydrate And Glycoprotein Metabolism Maternal Phenylketonuria

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Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria

Author : R. Angus Harkness
Publisher : Springer Science & Business Media
ISBN 13 : 9400921756
Total Pages : 292 pages
Book Rating : 4.4/5 (9 download)

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Book Synopsis Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria by : R. Angus Harkness

Download or read book Carbohydrate and Glycoprotein Metabolism; Maternal Phenylketonuria written by R. Angus Harkness and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 292 pages. Available in PDF, EPUB and Kindle. Book excerpt: 394 finding by Dr C. Jakobs, Amsterdam, was elevated plasma galactitol and/or sorbitol levels in some cataract patients with quite normal activities of the galactose-degrading enzymes and sorbitol dehydrogenase in RBC. Inherited disorders of glycoprotein metabolism were reviewed by Dr M. Cantz, Heidelberg, followed by detailed presentations on selected disorders. The meeting was closed by two exciting lectures, given by Dr J. R. Hobbs, London, and Dr F. Ledley, Houston, on the outcome of bone marrow transplantation and on future aspects of gene therapy in patients with inborn errors of metabolism. Each year the 'Mini' Symposium preceding the main topics attracts increasing numbers and in Munich more than half of the 281 active participants also attended on "Maternal Phenylketonuria", organized by Dr the highly interesting workshop D. Brenton, London. This four-hour workshop included international practical experiences in the treatment of maternal phenylketonuria as well as the results of amino acid transport and animal experiments.

Carbohydrate and Glycoprotein Metabolism ; Maternal Phenylketonuria

Author : Society for the Study of Inborn Errors of Metabolism. Meeting
Publisher :
ISBN 13 :
Total Pages : 279 pages
Book Rating : 4.:/5 (354 download)

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Book Synopsis Carbohydrate and Glycoprotein Metabolism ; Maternal Phenylketonuria by : Society for the Study of Inborn Errors of Metabolism. Meeting

Download or read book Carbohydrate and Glycoprotein Metabolism ; Maternal Phenylketonuria written by Society for the Study of Inborn Errors of Metabolism. Meeting and published by . This book was released on 1990 with total page 279 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Cumulated Index Medicus

Author :
Publisher :
ISBN 13 :
Total Pages : 1168 pages
Book Rating : 4.:/5 (31 download)

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Book Synopsis Cumulated Index Medicus by :

Download or read book Cumulated Index Medicus written by and published by . This book was released on 1986 with total page 1168 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Diagnosis of human peroxisomal disorders

Author : Frank Roels
Publisher : Springer Science & Business Media
ISBN 13 : 9401196354
Total Pages : 234 pages
Book Rating : 4.4/5 (11 download)

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Book Synopsis Diagnosis of human peroxisomal disorders by : Frank Roels

Download or read book Diagnosis of human peroxisomal disorders written by Frank Roels and published by Springer Science & Business Media. This book was released on 2013-06-29 with total page 234 pages. Available in PDF, EPUB and Kindle. Book excerpt: Peroxisomal disorders constitute a major research front in clinical genetics, paediatrics and cell biology. Since 1983, the metabolic defect in some 20 different peroxisomal disorders has been described. The best known conditions include Zellweger syndrome, rhizomelic chondrodysplasia punctata and X-linked adrenoleukodystrophy and, in the most recent edition of The Metabolic and Molecular Basis Inherited Disease, edited by Scriver and colleagues, more than 100 pages are now devoted to the subject. Progress in our understanding of these conditions, and their diagnosis, results from the application of a variety of laboratory investigations. These include microscopic studies, analysis of metabolites (very long-chain fatty acids, bile acids, and plasmalogens), enzyme studies (peroxisomal beta-oxidation pathway and dihydroxyacetone phosphate acyltransferase), immunodetection of peroxisomal (membrane) proteins and molecular analysis of mutant DNA. In order to encourage a greater awareness in this field and the diagnostic protocols required, an international course was organised in Gent, Belgium, in May 1994, on the clinical and biochemical diagnosis of peroxisomal disorders. A number of international experts in the field who provided intensive hands-on experience over 3.5 days, have now collected their course work and reviews together in this Handbook. The volume is introduced by Sidney Goldfischer, who in 1973 was the first to recognise the absence of peroxisomes in Zellweger syndrome, but whose observations were not fully appreciated for a further decade. This handbook provides the most comprehensive and detailed account of laboratory methods for the diagnosis of peroxisomal disorders. The methods are clearly presented and well illustrated, and should allow laboratories to introduce these methods into their repertoire. Audience: Paediatricians, neurologists, clinical biochemists, pathologists, genetic counsellors, obstetricians, and GPs interested in the recognition, diagnosis and prenatal prevention of peroxisomal disorders.

Medical Subject Headings

Author : National Library of Medicine (U.S.). Medical Subject Headings Section
Publisher :
ISBN 13 :
Total Pages : 1072 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Medical Subject Headings by : National Library of Medicine (U.S.). Medical Subject Headings Section

Download or read book Medical Subject Headings written by National Library of Medicine (U.S.). Medical Subject Headings Section and published by . This book was released on 1996 with total page 1072 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Oski's Pediatric Certification and Recertification Board Review

Author : Carmen Coombs
Publisher : Lippincott Williams & Wilkins
ISBN 13 : 1451148259
Total Pages : 640 pages
Book Rating : 4.4/5 (511 download)

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Book Synopsis Oski's Pediatric Certification and Recertification Board Review by : Carmen Coombs

Download or read book Oski's Pediatric Certification and Recertification Board Review written by Carmen Coombs and published by Lippincott Williams & Wilkins. This book was released on 2011-12-21 with total page 640 pages. Available in PDF, EPUB and Kindle. Book excerpt: Oski's Pediatric Certification and Recertification Board Review provides comprehensive coverage of all of the areas focused on in the board exam. Features include more than 300 board-style review questions, a full-color design and illustrations, and numerous Points to Remember.

Diseases of the Nervous System in Childhood

Author : Jean Aicardi
Publisher : Mac Keith Press
ISBN 13 :
Total Pages : 984 pages
Book Rating : 4.0/5 (89 download)

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Book Synopsis Diseases of the Nervous System in Childhood by : Jean Aicardi

Download or read book Diseases of the Nervous System in Childhood written by Jean Aicardi and published by Mac Keith Press. This book was released on 2009-03-16 with total page 984 pages. Available in PDF, EPUB and Kindle. Book excerpt: This new edition is comprehensively updated whilst retaining both the popular problem-solving approach and its familiar organisation and style. Notable advances receive careful coverage, from molecular genetics and imaging technology to 'new' diseases and important treatmen developments.

Research Awards Index

Author :
Publisher :
ISBN 13 :
Total Pages : 874 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Research Awards Index by :

Download or read book Research Awards Index written by and published by . This book was released on 1988 with total page 874 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Nelson Essentials of Pediatrics E-Book

Author : Karen Marcdante
Publisher : Elsevier Health Sciences
ISBN 13 : 0323528066
Total Pages : 840 pages
Book Rating : 4.3/5 (235 download)

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Book Synopsis Nelson Essentials of Pediatrics E-Book by : Karen Marcdante

Download or read book Nelson Essentials of Pediatrics E-Book written by Karen Marcdante and published by Elsevier Health Sciences. This book was released on 2018-02-27 with total page 840 pages. Available in PDF, EPUB and Kindle. Book excerpt: Part of the highly regarded Nelson family of pediatric references, Nelson Essentials of Pediatrics, 8th Edition, is a concise, focused resource for medical students, pediatric residents, PAs, and nurse practitioners. Ideal for pediatric residencies, clerkships, and exams, this 8th Edition offers a readable, full-color format; high-yield, targeted chapters; and new features that make it even more user-friendly for today’s in-training professionals or practitioners. Focuses on the core knowledge you need to know, while also providing complete coverage of recent advances in pediatrics. Coverage includes normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders. Includes new Pearls for Practitioners bullets at the end of each section, providing key clinical points and treatment information. Features well written, high-yield coverage throughout, following COMSEP curriculum guidelines relevant to your pediatric clerkship or rotation. Uses a full-color format with images and numerous new tables throughout, so you can easily visualize complex information. Provides real-world insights from chapter authors who are also Clerkship Directors, helping you gain the knowledge and skills necessary to succeed both in caring for patients and in preparing for clerkship or in-service examinations

Biomedical Index to PHS-supported Research: pt. A. Subject access A-H

Author :
Publisher :
ISBN 13 :
Total Pages : 1064 pages
Book Rating : 4.:/5 (319 download)

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Book Synopsis Biomedical Index to PHS-supported Research: pt. A. Subject access A-H by :

Download or read book Biomedical Index to PHS-supported Research: pt. A. Subject access A-H written by and published by . This book was released on 1992 with total page 1064 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Pediatric Neurology

Author : Kenneth F. Swaiman
Publisher : Elsevier Health Sciences
ISBN 13 : 0323033652
Total Pages : 2535 pages
Book Rating : 4.3/5 (23 download)

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Book Synopsis Pediatric Neurology by : Kenneth F. Swaiman

Download or read book Pediatric Neurology written by Kenneth F. Swaiman and published by Elsevier Health Sciences. This book was released on 2006-01-01 with total page 2535 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Gold Standard in clinical child neurology presents the entire specialty in the most comprehensive, authoritative, and clearly written fashion. Its clinical focus, along with relevant science, throughout is directed at both the experienced clinician and the physician in training. New editor, Dr. Ferriero brings expertise in neonatal neurology to the Fourth Edition. New chapters: Pathophysiology of Hypoxic Ischemic Encephalopathy, Congenital Disorders of Glycosylation, Pediatric Neurotransmitter Diseases, Neurophysiology of Epilepsy, Genetics of Epilepsy, Pediatric Neurorehabilitation Medicine, Neuropsychopharmacology, Pain and Palliative Care Management, Ethical Issues in Child Neurology

Nelson Essentials of Pediatrics E-Book

Author : Karen Marcdante
Publisher : Elsevier Health Sciences
ISBN 13 : 0323226981
Total Pages : 779 pages
Book Rating : 4.3/5 (232 download)

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Book Synopsis Nelson Essentials of Pediatrics E-Book by : Karen Marcdante

Download or read book Nelson Essentials of Pediatrics E-Book written by Karen Marcdante and published by Elsevier Health Sciences. This book was released on 2014-02-25 with total page 779 pages. Available in PDF, EPUB and Kindle. Book excerpt: The resource of choice for pediatric residencies, clerkships, and exams, Nelson Essentials of Pediatrics continues to provide a focused overview of the core knowledge in pediatrics. Succinct, targeted coverage of normal childhood growth and development, as well as the diagnosis, management, and prevention of common pediatric diseases and disorders, make this an ideal medical reference book for students, pediatric residents, nurse practitioners, and physician assistants. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Get an effective overview of pediatrics with help from concise text, a full-color design, high-yield tables, and numerous images. Take advantage of a wealth of images that capture the clinical manifestations and findings associated with Kawasaki disease, lupus, lymphoma, stroke, and many other disorders seen in children. Efficiently review essential, concise pediatric content with this popular extension of the Nelson Textbook of Pediatrics (ISBN: 978-1-4377-0755-7). Focus on the core knowledge needed for your pediatric clerkship or rotation with coverage that follows the COMSEP curriculum guidelines. Easily visualize complex aspects with a full-color layout and images, as well as numerous tables throughout the text.

Fetal and Neonatal Neurology and Neurosurgery

Author : Malcolm I. Levene
Publisher : Elsevier Health Sciences
ISBN 13 : 0443104077
Total Pages : 940 pages
Book Rating : 4.4/5 (431 download)

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Book Synopsis Fetal and Neonatal Neurology and Neurosurgery by : Malcolm I. Levene

Download or read book Fetal and Neonatal Neurology and Neurosurgery written by Malcolm I. Levene and published by Elsevier Health Sciences. This book was released on 2009-01-01 with total page 940 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive reference work on the developing brain from conception through the first year of life, this book provides specialists involved in the management of the fetus and the neonate with the latest information on the developmental neurology and pathology of the developing central nervous system.

Neurology in Clinical Practice

Author : Walter George Bradley
Publisher :
ISBN 13 : 9780750674690
Total Pages : 1672 pages
Book Rating : 4.6/5 (746 download)

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Book Synopsis Neurology in Clinical Practice by : Walter George Bradley

Download or read book Neurology in Clinical Practice written by Walter George Bradley and published by . This book was released on 2004 with total page 1672 pages. Available in PDF, EPUB and Kindle. Book excerpt: New edition, completely rewritten, with new chapters on endovascular surgery and mitochrondrial and ion channel disorders.

Genetics Abstracts

Author :
Publisher :
ISBN 13 :
Total Pages : 674 pages
Book Rating : 4.F/5 ( download)

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Download or read book Genetics Abstracts written by and published by . This book was released on 1980 with total page 674 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Pediatric Nephrology

Author : Ellis D. Avner
Publisher : Springer Science & Business Media
ISBN 13 : 3540763279
Total Pages : 2059 pages
Book Rating : 4.5/5 (47 download)

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Book Synopsis Pediatric Nephrology by : Ellis D. Avner

Download or read book Pediatric Nephrology written by Ellis D. Avner and published by Springer Science & Business Media. This book was released on 2009-08-20 with total page 2059 pages. Available in PDF, EPUB and Kindle. Book excerpt: Here is an extensive update of Pediatric Nephrology, which has become the standard reference text in the field. It is global in perspective and reflects the international group of editors, who are well-recognized experts in pediatric nephrology. Within this text, the development of kidney structure and function is followed by detailed and comprehensive chapters on all childhood kidney diseases.

Biomarkers in Inborn Errors of Metabolism

Author : Uttam Garg
Publisher : Elsevier
ISBN 13 : 0128029188
Total Pages : 477 pages
Book Rating : 4.1/5 (28 download)

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Book Synopsis Biomarkers in Inborn Errors of Metabolism by : Uttam Garg

Download or read book Biomarkers in Inborn Errors of Metabolism written by Uttam Garg and published by Elsevier. This book was released on 2017-06-07 with total page 477 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism Offers guidance on how to distinguish acquired causes from inborn errors of metabolism