Peroxisomal Disorders and Regulation of Genes

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Publisher : Springer Science & Business Media
ISBN 13 : 1441990720
Total Pages : 434 pages
Book Rating : 4.4/5 (419 download)

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Book Synopsis Peroxisomal Disorders and Regulation of Genes by : Frank Roels

Download or read book Peroxisomal Disorders and Regulation of Genes written by Frank Roels and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 434 pages. Available in PDF, EPUB and Kindle. Book excerpt: In most peroxisomal disorders the nervous system is severely affected which explains the clinical and community burden they represent. This is the first book to focus not only on the mutations causing these inherited illnesses, but also on mechanisms that regulate, suppress or enhance expression of genes and their products (enzymes). Indeed since the success and completion of the Human Genome Project all genes (coding DNA sequences) are known. However, of many, their function, and the role of the gene product has not been determined. An example is X-linked adrenoleukodystrophy, the most frequent peroxisomal disorder. Children are born healthy, but in more than 1 out of 3, demyelination of the brain starts unpredictably and they die in a vegetative state. The gene mutated in most families has been known for 10 years; but the true role of the encoded protein, ALDp, is still speculative; and within the same family, very severe and asymptomatic clinical histories co-exist, unexplained by the mutation.

Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases

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Publisher : Springer Nature
ISBN 13 : 3030602044
Total Pages : 209 pages
Book Rating : 4.0/5 (36 download)

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Book Synopsis Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases by : Gérard Lizard

Download or read book Peroxisome Biology: Experimental Models, Peroxisomal Disorders and Neurological Diseases written by Gérard Lizard and published by Springer Nature. This book was released on 2021-01-08 with total page 209 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides an overview of the biology and biochemistry of peroxisomes, and discusses the contribution of these organelles to peroxisomal and neurodegenerative diseases. It begins with a detailed introduction to the biogenesis and metabolic functions of peroxisomes, and highlights their role in oxidative stress and in lipid metabolism such as fatty acid oxidation. The following chapters focus on the molecular and clinical aspects of peroxisomal disorders caused by defects in peroxisomal function. In particular, the biological aspects of peroxisomal biogenesis disorders such as Zellweger syndrome and Heimler syndrome are discussed. This includes their underlying genetic causes as well as the biochemical and metabolic defects associated with the disorders. In addition, several chapters cover recent observations suggesting an association between peroxisomal dysfunction and neurodegenerative diseases such as Alzheimer's, Multiple Sclerosis and other degenerative cerebellar pathologies. The final section of the book discusses important cell and animal models for studying the role of peroxisomes in human diseases and presents current therapeutic strategies for their treatment. This book deals with a highly topical subject that is at the heart of current research, and represents a valuable contribution for all students and researchers who want to understand the complex biology of peroxisomes and their role in human diseases.

Diagnosis of human peroxisomal disorders

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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.

NORD Guide to Rare Disorders

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Publisher : Lippincott Williams & Wilkins
ISBN 13 : 9780781730631
Total Pages : 982 pages
Book Rating : 4.7/5 (36 download)

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Book Synopsis NORD Guide to Rare Disorders by : National Organization for Rare Disorders

Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.

The Metabolic & Molecular Bases of Inherited Disease

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Publisher : New York ; Montreal : McGraw-Hill
ISBN 13 : 9780071363198
Total Pages : 6338 pages
Book Rating : 4.3/5 (631 download)

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Book Synopsis The Metabolic & Molecular Bases of Inherited Disease by : Charles R. Scriver

Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.

Peroxisomes

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Publisher : Springer
ISBN 13 : 9783540568605
Total Pages : 201 pages
Book Rating : 4.5/5 (686 download)

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Book Synopsis Peroxisomes by : Norbert Latruffe

Download or read book Peroxisomes written by Norbert Latruffe and published by Springer. This book was released on 1993-12-16 with total page 201 pages. Available in PDF, EPUB and Kindle. Book excerpt: Discovered and first isolated in 1966 in C. De Duve's laboratory, peroxisomes - organelles which are present in nearly all eukaryotic cells - are still not fully understood. More than 40 peroxisomal enzymes catalyzing a variety of reactions have been characterized. Moreover, peroxisomes can be regarded as toxicological indicators: several compounds, including hypolipemic drugs, plasticizers or pesticides trigger their proliferation. This proliferation may lead to hepatocarcinogenesis in rodents. Interest in peroxisomes stems not only fromtheir biology, but also because there is a deficiency of peroxisomal functions in several genetic diseases. Some genes involved in inborn errors of peroxisomal function have recently been identified. In this manual, based on a FEBS Advanced Course on peroxisomes, protocols on the following topics are described in detail: Isolation and characterization of peroxisomes by ultracentrifugationand immunoblotting; gene regulation studied by mRNA isolation, hybridizationand DNA cell transfection; use of cell lines as peroxisome proliferator targets; transformation with retrovirus; peroxisomes as toxicological markers; cytochrome P450 induction; drug design and computer analysis of ligand/receptor interaction involved in peroxisomal gene expression.

The Liver

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Publisher : John Wiley & Sons
ISBN 13 : 1119436826
Total Pages : 1156 pages
Book Rating : 4.1/5 (194 download)

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Book Synopsis The Liver by : Irwin M. Arias

Download or read book The Liver written by Irwin M. Arias and published by John Wiley & Sons. This book was released on 2020-03-09 with total page 1156 pages. Available in PDF, EPUB and Kindle. Book excerpt: Bridging the gap between basic scientific advances and the understanding of liver disease — the extensively revised new edition of the premier text in the field. The latest edition of The Liver: Biology and Pathobiology remains a definitive volume in the field of hepatology, relating advances in biomedical sciences and engineering to understanding of liver structure, function, and disease pathology and treatment. Contributions from leading researchers examine the cell biology of the liver, the pathobiology of liver disease, the liver’s growth, regeneration, metabolic functions, and more. Now in its sixth edition, this classic text has been exhaustively revised to reflect new discoveries in biology and their influence on diagnosing, managing, and preventing liver disease. Seventy new chapters — including substantial original sections on liver cancer and groundbreaking advances that will have significant impact on hepatology — provide comprehensive, fully up-to-date coverage of both the current state and future direction of hepatology. Topics include liver RNA structure and function, gene editing, single-cell and single-molecule genomic analyses, the molecular biology of hepatitis, drug interactions and engineered drug design, and liver disease mechanisms and therapies. Edited by globally-recognized experts in the field, this authoritative volume: Relates molecular physiology to understanding disease pathology and treatment Links the science and pathology of the liver to practical clinical applications Features 16 new “Horizons” chapters that explore new and emerging science and technology Includes plentiful full-color illustrations and figures The Liver: Biology and Pathobiology, Sixth Edition is an indispensable resource for practicing and trainee hepatologists, gastroenterologists, hepatobiliary and liver transplant surgeons, and researchers and scientists in areas including hepatology, cell and molecular biology, virology, and drug metabolism.

Emerging Technologies for Nutrition Research

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Publisher : National Academies Press
ISBN 13 : 0309174538
Total Pages : 729 pages
Book Rating : 4.3/5 (91 download)

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Book Synopsis Emerging Technologies for Nutrition Research by : Institute of Medicine

Download or read book Emerging Technologies for Nutrition Research written by Institute of Medicine and published by National Academies Press. This book was released on 1997-09-03 with total page 729 pages. Available in PDF, EPUB and Kindle. Book excerpt: The latest of a series of publications based on workshops sponsored by the Committee on Military Nutrition Research, this book's focus on emerging technologies for nutrition research arose from a concern among scientists at the U.S. Army Research Institute of Environmental Medicine that traditional nutrition research, using standard techniques, centered more on complex issues of the maintenance or enhancement of performance, and might not be sufficiently substantive either to measure changes in performance or to predict the effects on performance of stresses soldiers commonly experience in operational environments. The committee's task was to identify and evaluate new technologies to determine whether they could help resolve important issues in military nutrition research. The book contains the committee's summary and recommendations as well as individually authored chapters based on presentations at a 1995 workshop. Other chapters cover techniques of body composition assessment, tracer techniques for the study of metabolism, ambulatory techniques for the determination of energy expenditure, molecular and cellular approaches to nutrition, the assessment of immune function, and functional and behavioral measures of nutritional status.

Gene Regulation, Epigenetics and Hormone Signaling

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Publisher : John Wiley & Sons
ISBN 13 : 3527322817
Total Pages : 678 pages
Book Rating : 4.5/5 (273 download)

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Book Synopsis Gene Regulation, Epigenetics and Hormone Signaling by : Subhrangsu S. Mandal

Download or read book Gene Regulation, Epigenetics and Hormone Signaling written by Subhrangsu S. Mandal and published by John Wiley & Sons. This book was released on 2017-10-23 with total page 678 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first of its kind, this reference gives a comprehensive but concise introduction to epigenetics before covering the many interactions between hormone regulation and epigenetics at all levels. The contents are very well structured with no overlaps between chapters, and each one features supplementary material for use in presentations. Throughout, major emphasis is placed on pathological conditions, aiming at the many physiologists and developmental biologists who are familiar with the importance and mechanisms of hormone regulation but have a limited background in epigenetics.

Plant Peroxisomes

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Publisher : Springer Science & Business Media
ISBN 13 : 9401598584
Total Pages : 509 pages
Book Rating : 4.4/5 (15 download)

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Book Synopsis Plant Peroxisomes by : A. Baker

Download or read book Plant Peroxisomes written by A. Baker and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 509 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the two decades since the last comprehensive work on plant peroxisomes appeared, the scientific approaches employed in the study of plant biology have changed beyond all recognition. The accelerating pace of plant research in the post-genomic era is leading us to appreciate that peroxisomes have many important roles in plant cells, including reserve mobilisation, nitrogen assimilation, defence against stress, and metabolism of plant hormones, which are vital for productivity and normal plant development. Many plant scientists are finding, and will no doubt continue to find, that their own area of research is connected in some way to peroxisomes. Written by the leading experts in the field, this book surveys peroxisomal metabolic pathways, protein targeting and biogenesis of the organelle and prospects for the manipulation of peroxisomal function for biotechnological purposes. It aims to draw together the current state of the art as a convenient starting point for anyone, student or researcher, who wishes to know about plant peroxisomes.

Metabolic Diseases

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Publisher : IOS Press
ISBN 13 : 1614997187
Total Pages : 960 pages
Book Rating : 4.6/5 (149 download)

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Book Synopsis Metabolic Diseases by : E. Gilbert-Barness

Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.

The Causes of Epilepsy

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Publisher : Cambridge University Press
ISBN 13 : 1108420753
Total Pages : 1013 pages
Book Rating : 4.1/5 (84 download)

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Book Synopsis The Causes of Epilepsy by : Simon Shorvon

Download or read book The Causes of Epilepsy written by Simon Shorvon and published by Cambridge University Press. This book was released on 2019-05-02 with total page 1013 pages. Available in PDF, EPUB and Kindle. Book excerpt: Expanded and revised, this unique book provides concise descriptions of the many causes of epilepsy, for use in clinical practice.

Biomarkers in Inborn Errors of Metabolism

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Publisher : Elsevier
ISBN 13 : 0128029188
Total Pages : 476 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 476 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

Molecular Machines Involved in Peroxisome Biogenesis and Maintenance

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Author :
Publisher : Springer
ISBN 13 : 3709117887
Total Pages : 540 pages
Book Rating : 4.7/5 (91 download)

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Book Synopsis Molecular Machines Involved in Peroxisome Biogenesis and Maintenance by : Cecile Brocard

Download or read book Molecular Machines Involved in Peroxisome Biogenesis and Maintenance written by Cecile Brocard and published by Springer. This book was released on 2014-07-23 with total page 540 pages. Available in PDF, EPUB and Kindle. Book excerpt: In eukaryotes, lipid metabolism requires the function of peroxisomes. These multitasking organelles are also part of species-specific pathways such as the glyoxylate cycle in yeast and plants or the synthesis of ether lipid in mammals. Proteins required for the biogenesis of peroxisomes typically assemble in large molecular complexes, which participate in membrane formation, protein transport, peroxisome duplication and - inheritance during cell division. Peroxisomal function is essential for life. Mutations in PEX genes, encoding for biogenesis factors, are often associated with lethal disorders. The association of peroxisomes with other organelles suggests an extensive participation in organellar crosstalk. This book represents a state-of-the-art review in the field of peroxisome research encompassing the cell and molecular biology of peroxisome biogenesis and its diseases, the protein complexes involved in this process and the modern technologies applied to study them. The book is intended for graduate students, researchers and lecturers in biochemistry, molecular and cell biology with a biomedical background.

Peroxisomes

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Author :
Publisher : Springer Nature
ISBN 13 : 1071630482
Total Pages : 507 pages
Book Rating : 4.0/5 (716 download)

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Book Synopsis Peroxisomes by : Michael Schrader

Download or read book Peroxisomes written by Michael Schrader and published by Springer Nature. This book was released on 2023-03-23 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: This fully updated volume assembles a comprehensive collection of methods, techniques, and strategies to investigate the molecular and cellular biology of peroxisomes in different organisms. Peroxisome research is on the rise, as novel functions and proteins of this dynamic organelle are still being discovered through studies in model systems including humans, mice, flies, plants, fungi, and yeast, and this progress is reflected in the chapters included in this collection. Written for the highly successful Methods in Molecular Biology series, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step and readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and up-to-date, Peroxisomes: Methods and Protocols, Second Edition serves as an ideal guide for researchers working on peroxisome- and organelle-based research questions.

Inherited Metabolic Disease in Adults

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Publisher : Oxford University Press
ISBN 13 : 0199972133
Total Pages : 657 pages
Book Rating : 4.1/5 (999 download)

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Book Synopsis Inherited Metabolic Disease in Adults by : Carla E. M. Hollak

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.

Peroxisomes

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Publisher :
ISBN 13 :
Total Pages : pages
Book Rating : 4.:/5 (757 download)

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Book Synopsis Peroxisomes by :

Download or read book Peroxisomes written by and published by . This book was released on 2006 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: