Download or read book Diagnosis of Organic Acidemias by Gas Chromatography mass Spectrometry written by Stephen I. Goodman and published by . This book was released on 1981 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: Določevanje acidoze, ki nastopi zaradi organskih kislin, s kombinacijo GC-MS.

Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.

Download or read book Organic Acids in Man written by R. Chalmers and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 531 pages. Available in PDF, EPUB and Kindle. Book excerpt: The writing of this book was prompted by the need for a comprehensive of current data on organic acids suitable for both newcomers and collection established researchers in this field. The only previous text of the kind was the excellent review by Nordmann and Nordmann (1961), and at that time the main method of analysis was paper chromatography with liquid chromatography being used in a limited way. Only three diseases in which organic acids accumulate were known (primary hyperoxaluria, phenylketonuria and alcaptonuria). Since then, with the development of gas chromatography and mass spectrometry, and the further development ofliquid chromatography, knowledge concerning the nature of the organic acids in physiological fluids has been greatly extended. At the same time, the number of organic acidurias has increased dramatically, there being now some 40-50 known diseases of this type. During the past 15 years or so, there have been several reviews, dealing with either specific diseases or groups of diseases (Gompertz, 1972, 1974; Tanaka, 1975), or presenting the proceedings of symposia (Stern and Toothill, 1972) or workshops (Marner et al. , 1974). This present text deals comprehensively and in detail with the organic acids in human physiological fluids in health and in disease states, and is particularly concerned with the methods necessary for their separation, determination and indentification.

Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.

Download or read book Clinical Applications of Mass Spectrometry written by Uttam Garg and published by Humana Press. This book was released on 2009-12-14 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: As mass spectrometric methods now offer a level of specificity and sensitivity unrealized by spectrophotometric- and immunoassay-based methods, mass spectrometry has entered the clinical laboratory where it is being used for a wide range of applications. In Clinical Applications of Mass Spectrometry: Methods and Protocols, expert researchers provide detailed step-by-step procedures for the analysis of number of analytes of clinical importance. This versatile and expansive volume covers mass spectrometry methods for analytes including a variety of drugs, hormones, and metabolic compounds spanning the disciplines of toxicology, therapeutic drug monitoring, endocrinology, and pediatric metabolism. Written in the highly successful Methods in Molecular BiologyTM series format, chapters include brief introductions to the analytes, lists of the necessary materials and reagents, readily reproducible analytical protocols, and detailed notes on troubleshooting and avoiding known pitfalls. Comprehensive and dependable, Clinical Applications of Mass Spectrometry: Methods and Protocols offers its readers a wide array of valuable methods for experienced mass spectrometric labs that are looking to introduce new analyses as well as for those laboratories currently considering the addition of this resourceful and vital technology.

Download or read book Pediatric Endocrinology and Inborn Errors of Metabolism written by Kyriakie Sarafoglou and published by McGraw Hill Professional. This book was released on 2012-09-01 with total page 966 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fast, crystal-clear guidance on managing both pediatric endocrine disorders and inborn errors of metabolism A Doody's Core Title for 2011! New England Journal of Medicine Review! "...an inspiring learning tool....Sarafoglou and colleagues have combined their expertise to create an informative and timely textbook in which the explanations of underlying mechanisms guide the structure of each chapter. It is a unique book that is pleasing to the eye, nurturing for the mind, and instructive for a broad readership."--New England Journal of Medicine 4 STAR DOODY'S REVIEW! "The book covers various pathophysiologic aspects of each endocrine organ and its interaction with other endocrine and nonendocrine systems. Disorders of thyroid and adrenal glands, pituitary, reproductive organs, and endocrine neoplasia are extensively covered. Most large groups of metabolic diseases are reviewed as well. Concise, pertinent information is provided on mitochondrial and fatty-acid oxidation, urea cycle and glycogen storage disorders, as well as organic acidurias and amino acidopathies. The most useful and user-friendly areas are the 1-to-2-page "at-a-glance" sections in each chapter which provide concise yet pertinent information about the disorders within a particular group of endocrine disturbances or IEM. This is a well written book and the multiple visual aids greatly assist in comprehension and memorization of the material...I strongly recommend this book without reservation." -- Doody's In one practical, user-friendly tutorial, a team of international contributors delivers the latest information and clinical insights you need to confidently diagnose and manage pediatric patients. This full-color resource guides you through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatments regimens of each disorder. Features: Full-color presentation with numerous photos, illustrations, diagnostic algorithms, tables, and text boxes that summarize key concepts and assist in the decision-making process At-a-Glance feature beginning each disease-based chapter summarizes all the clinical information you need to differentiate between disorder sub-types in one easy-to-find place All-inclusive coverage encompasses the full spectrum of critical topics Emergency assessment and treatment chapter gives you fast, clear guidance on acute presentations of endocrine and metabolic disorders Chapter on newborn screening walks you through an abnormal screening result to follow-up diagnostic testing Complete and detailed information on all laboratory and radiographic testing used to diagnose disorders in both disciplines

Download or read book Physician s Guide to the Diagnosis Treatment and Follow Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.

Download or read book The Diagnostic Approaches to Methylmalonic Acidemia written by Abdel-Azim Ghoraba Dina and published by LAP Lambert Academic Publishing. This book was released on 2014-04 with total page 328 pages. Available in PDF, EPUB and Kindle. Book excerpt: Methylmalonic acidemia (MMA) is an autosomal recessive disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. It results commonly from a defect in the gene encoding methylmalonyl CoA mutase apoenzyme MCM (mut MMA or vitamin B12-unresponsive MMA). This work highlights four aspects of methylmalonic aciduria diagnosis: First, it presents an overview of the diagnostic evaluation of patients with organic acidurias and several other IEMs by liquid chromatography- tandem mass spectrometry (LC-MS/MS), gas chromatography- mass spectrometry (GC-MS) and isocratic "high-performance liquid-chromatography" (HPLC).Second, it reports HPLC method for screening of disease associated metabolites and compares the specificity and sensitivity of HPLC and GC/MS for organic aciduria screening. Third, it reports the clinical and biochemical laboratory investigations to MMA, and finally was to highlight the molecular investigations by reporting the results of mutation study of exon II of MUT gene for all patients with methylmalonic aciduria. Findings are likely to be of great interest to the scientists, researchers, trainees and clinicians and could be applied in the clinic right away.

Download or read book Laboratory Guide to the Methods in Biochemical Genetics written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2008-05-31 with total page 860 pages. Available in PDF, EPUB and Kindle. Book excerpt: This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.

Download or read book Techniques in Diagnostic Human Biochemical Genetics written by Frits A. Hommes and published by Wiley-Liss. This book was released on 1991 with total page 674 pages. Available in PDF, EPUB and Kindle. Book excerpt: Here is an up-to-date review of procedures currently in use in diagnostic biochemical genetics laboratories around the world. Offers not only accounts of methodology but also provides guidelines for the interpretation of both standard and abnormal results. The text includes coverage of most of the methods being employed to determine specific analyses as well as discussions of statistics and data management and the protocols of transmitting laboratory results with genetic information. Many of the chapters contain introductory sections describing background information on the development of a particular genetic test and an evaluation of the clinical significance and applicability of the test.

Download or read book Mass Spectrometry for the Clinical Laboratory written by Hari Nair and published by Academic Press. This book was released on 2016-11-02 with total page 304 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mass Spectrometry for the Clinical Laboratory is an accessible guide to mass spectrometry and the development, validation, and implementation of the most common assays seen in clinical labs. It provides readers with practical examples for assay development, and experimental design for validation to meet CLIA requirements, appropriate interference testing, measuring, validation of ion suppression/matrix effects, and quality control. These tools offer guidance on what type of instrumentation is optimal for each assay, what options are available, and the pros and cons of each. Readers will find a full set of tools that are either directly related to the assay they want to adopt or for an analogous assay they could use as an example. Written by expert users of the most common assays found in a clinical laboratory (clinical chemists, toxicologists, and clinical pathologists practicing mass spectrometry), the book lays out how experts in the field have chosen their mass spectrometers, purchased, installed, validated, and brought them on line for routine testing. The early chapters of the book covers what the practitioners have learned from years of experience, the challenges they have faced, and their recommendations on how to build and validate assays to avoid problems. These chapters also include recommendations for maintaining continuity of quality in testing. The later parts of the book focuses on specific types of assays (therapeutic drugs, Vitamin D, hormones, etc.). Each chapter in this section has been written by an expert practitioner of an assay that is currently running in his or her clinical lab. Provides readers with the keys to choosing, installing, and validating a mass spectrometry platform Offers tools to evaluate, validate, and troubleshoot the most common assays seen in clinical pathology labs Explains validation, ion suppression, interference testing, and quality control design to the detail that is required for implementation in the lab

Download or read book Metabolomics written by M. Tomita and published by Springer Science & Business Media. This book was released on 2006-06-18 with total page 267 pages. Available in PDF, EPUB and Kindle. Book excerpt: Metabolism is the sum of the chemical reactions in cells that produce life-sustaining chemical energy and metabolites. In the post-genome era, metabolism has taken on new significance for biological scientists: metabolites are the chemical basis of phenotypes that are final expressions of genomic information. This book covers research on metabolomics, ranging from the development of specialized chemical analytical techniques to the construction of databases and methods for metabolic simulation. The authors have been directly involved in the development of all the subject areas, including capillary electrophoresis, liquid chromatography, mass spectrometry, metabolic databases, and metabolic simulation. Breakthrough achievements and the future of metabolome studies are described, making this book a valuable source for researchers in metabolomics in diverse fields, such as plant, animal, cellular, microbial, pharmaceutical, medical, and genetic sciences.

Download or read book Handbook of LC MS Bioanalysis written by Wenkui Li and published by John Wiley & Sons. This book was released on 2013-09-03 with total page 709 pages. Available in PDF, EPUB and Kindle. Book excerpt: Consolidates the information LC-MS bioanalytical scientists need to analyze small molecules and macromolecules The field of bioanalysis has advanced rapidly, propelled by new approaches for developing bioanalytical methods, new liquid chromatographic (LC) techniques, and new mass spectrometric (MS) instruments. Moreover, there are a host of guidelines and regulations designed to ensure the quality of bioanalytical results. Presenting the best practices, experimental protocols, and the latest understanding of regulations, this book offers a comprehensive review of LC-MS bioanalysis of small molecules and macromolecules. It not only addresses the needs of bioanalytical scientists working on routine projects, but also explores advanced and emerging technologies such as high-resolution mass spectrometry and dried blood spot microsampling. Handbook of LC-MS Bioanalysis features contributions from an international team of leading bioanalytical scientists. Their contributions reflect a review of the latest findings, practices, and regulations as well as their own firsthand analytical laboratory experience. The book thoroughly examines: Fundamentals of LC-MS bioanalysis in drug discovery, drug development, and therapeutic drug monitoring The current understanding of regulations governing LC-MS bioanalysis Best practices and detailed technical instructions for LC-MS bioanalysis method development, validation, and stability assessment of analyte(s) of interest Experimental guidelines and protocols for quantitative LC-MS bioanalysis of challenging molecules, including pro-drugs, acyl glucuronides, N-oxides, reactive compounds, and photosensitive and autooxidative compounds With its focus on current bioanalytical practice, Handbook of LC-MS Bioanalysis enables bioanalytical scientists to develop and validate robust LC-MS assay methods, all in compliance with current regulations and standards.

Download or read book Clinical Applications of Mass Spectrometry in Biomolecular Analysis written by Uttam Garg and published by Humana. This book was released on 2015-11-25 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume provides stepwise instructions for the analysis of numerous clinically important analytes by mass spectrometry. Mass spectrometry offers clinical laboratory scientists a number of advantages including increased sensitivity and specificity, multiple component analysis, and no need for specialized reagents. The techniques described are a must for the measurement of many clinically relevant analytes in the fields of drug analysis, endocrinology, and inborn errors of metabolism. Each chapter provides a brief introduction about a specified analyte, followed by detailed instructions on the analytical protocol. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Cutting edge and practical, Clinical Applications of Mass Spectrometry in Biomolecular Analysis: Methods and Protocols is a great resource for clinical laboratory scientists who are already using or thinking of bringing mass spectrometry to their laboratories.

Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.

Download or read book GC MS of Biologically and Environmentally Significant Organic Compounds written by Valery A. Isidorov and published by John Wiley & Sons. This book was released on 2020-03-30 with total page 714 pages. Available in PDF, EPUB and Kindle. Book excerpt: Provides a comprehensive guide to the use of gas chromatography–mass spectrometry (GC-MS) on environmentally significant organic compounds This book presents a library of mass spectra of 1,725 biologically and environmentally important organic compounds, in the form of their trimethylsilyl derivatives (TMS), as well as their linear temperature programmed chromatographic retention indices, RI, whose values are in the range of 700-4700 index units. Of the compounds presented, more than 60% of compounds have not previously been characterized by their mass spectra, and more than 70% not previously been characterized by their RI values. Some of these compounds, never before analysed via MS and GC, were detected by the author’s team in plant tissues. The first chapters of the book are devoted to the methodology and practice of sample preparation, as well as to mass spectrometry considerations. They contain the discussion of possible complications and limitations of the method. The book includes lists of chemical compounds in alphabetical order, as well as in the order of their retention indices which facilitates the search for parameters of interest. Every compound in the book includes a RI value, mass spectrum, CAS number (if available), molecular and structural formula, formula weight, chemical name and list of synonyms, as well the source of compounds used for registration of spectrum and RI value. Features mass spectra and chromatographic retention indices of 1,725 organic substances in the form of their trimethylsilyl derivatives (TMS) Includes the CAS number, molecular and structural formula, formula weight, mass spectrum, chemical name and list of synonyms, and more for every compound covered within The first publication containing analytical parameters of high-boiling compounds such as glycosides, lignans, and phenylpropenoid glycerides with RI values >4000 GC-MS of Biologically and Environmentally Significant Organic Compounds will appeal to specialists in phytochemical analysis, food, and environmental chemistry, as well as other investigators dealing with GC or GC/MS analysis complex mixtures of organic compounds. The accompanying electronic database, "Biologically and Environmentally Important Organic Compounds - GCMS Library", will be published in mid-2020, ISBN: 978-1-119-60170-8.

Download or read book Neonatal Screening for Inborn Errors of Metabolism written by H. Bickel and published by Springer. This book was released on 2011-11-15 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.