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Books > Medicine > Clinical & internal medicine > Diseases & disorders > Congenital diseases & disorders

The Cure - How a Father Raised $100 Million--And Bucked the Medical Establishment--In a Quest to Save His Children (Paperback):... The Cure - How a Father Raised $100 Million--And Bucked the Medical Establishment--In a Quest to Save His Children (Paperback)
Geeta Anand
R697 R598 Discovery Miles 5 980 Save R99 (14%) Ships in 12 - 17 working days

The riveting true story of John and Aileen Crowley's race to find a cure for Pompe disease that inspired the movie Extraordinary Measures

With three beautiful children, a new house, and financial security, John and Aileen Crowley were on top of the world--until their two youngest children, fifteen-month-old Megan and five-month-old Patrick, were diagnosed with Pompe disease and given only months to live. Refusing to accept a death sentence, John quit his financial consultant job and invested his life savings in a biotechnology start-up to research the disease and find a cure. Battling scientific setbacks, conflict of interest accusations, and business troubles, John and Aileen would be tested to their limits as they valiantly fought, and succeeded, in finding revolutionary new treatment for the disease--offering hope to Megan, Patrick, and the many children and families affected by Pompe disease around the world.

The inspiration for the captivating film Extraordinary Measures, starring Brendan Fraser and Harrison Ford, The Cure is a remarkable true story of cutting-edge science, business acumen and daring, and one family's indomitable spirit.

Renal Diet Cookbook - The Ultimate Guide To Manage Kidney Diseases With The +125 Tastiest and Easy-To-Make Low Potassium, Low... Renal Diet Cookbook - The Ultimate Guide To Manage Kidney Diseases With The +125 Tastiest and Easy-To-Make Low Potassium, Low Phosphorous, And Low Sodium Recipes For The Newly Diagnosed. INCLUDING 30-Day Meal Plan (Hardcover)
Evelyn Myers
R921 Discovery Miles 9 210 Ships in 12 - 17 working days
Renal Diet Cookbook - The Ultimate Guide To Manage Kidney Diseases With The +125 Tastiest and Easy-To-Make Low Potassium, Low... Renal Diet Cookbook - The Ultimate Guide To Manage Kidney Diseases With The +125 Tastiest and Easy-To-Make Low Potassium, Low Phosphorous, And Low Sodium Recipes For The Newly Diagnosed. INCLUDING 30-Day Meal Plan (Hardcover)
Evelyn Myers
R821 Discovery Miles 8 210 Ships in 12 - 17 working days
The Method of Through-Bone Osteosynthesis in Trauma Care and Orthopedics (Hardcover): Nikolai Ivanovich Savchenko The Method of Through-Bone Osteosynthesis in Trauma Care and Orthopedics (Hardcover)
Nikolai Ivanovich Savchenko; Translated by Michael Francis Reich
R5,293 R4,113 Discovery Miles 41 130 Save R1,180 (22%) Ships in 10 - 15 working days
Duchenne Muscular Dystrophy (Hardcover, 4th Revised edition): Alan E.H. Emery, Francesco Muntoni, Rosaline C. M. Quinlivan Duchenne Muscular Dystrophy (Hardcover, 4th Revised edition)
Alan E.H. Emery, Francesco Muntoni, Rosaline C. M. Quinlivan
R3,521 Discovery Miles 35 210 Ships in 12 - 17 working days

Duchenne Muscular Dystrophy, an inherited and progressive muscle wasting disease, is one of the most common single gene disorders found in the developed world. In this fourth edition of the classic monograph on the topic, Alan Emery and Francesco Muntoni are joined by Rosaline Quinlivan, Consultant in Neuromuscular Disorders, to provide a thorough update on all aspects of the disorder. Recent understanding of the nature of the genetic defect responsible for Duchenne Muscular Dystrophy and isolation of the protein dystrophin has led to the development of new theories for the disease's pathogenesis. This new edition incorporates these advances from the field of molecular biology, and describes the resultant opportunities for screening, prenatal diagnosis, genetic counselling and from recent pioneering work with anti-sense oligonucleotides, the possibility of effective RNA therapy. Although there is still no cure for the disorder, there have been significant developments concerning the gene basis, publication of standards of care guidelines, and improvements in management leading to significantly longer survival, particularly with cardio-pulmonary care. The authors also investigate other forms of pharmacological, cellular and gene therapies. Duchenne Muscular Dystrophy will be essential reading not only for scientists and clinicians, but will also appeal to therapists and other professionals involved in the care of patients with muscular dystrophy.

Stem Cells for Cancer and Genetic Disease Treatment (Hardcover, 1st ed. 2018): Phuc Van Pham, Ahmed El-Hashash Stem Cells for Cancer and Genetic Disease Treatment (Hardcover, 1st ed. 2018)
Phuc Van Pham, Ahmed El-Hashash
R3,025 Discovery Miles 30 250 Ships in 10 - 15 working days

This invaluable resource discusses insights ranging from basic biological mechanisms of various types of stem cells through the potential applications in the treatment of human diseases, including cancer and genetic disorders. These discoveries are placed within the structural context of tissue and developmental biology in sections dealing with recent advances in understanding different types of stem cell biology and their potential applications in tissue repair and regeneration and in the treatment different types of human cancer and genetic diseases or disorders. Stem Cells for Cancer and Genetic Disease Treatment and the other books in the Stem Cells in Clinical Applicationsseries will be invaluable to scientists, researchers, advanced students and clinicians working in stem cells, regenerative medicine or tissue engineering as well as cancer or genetics research.

Morbid Anatomy of the Genome, Volume 2 (Hardcover): R.S. Verma Morbid Anatomy of the Genome, Volume 2 (Hardcover)
R.S. Verma
R2,985 Discovery Miles 29 850 Ships in 12 - 17 working days

The technical advances in molecular biology have endowed us with a wealth of knowledge, which has allowed us to identify the cause of diseases not only at a single gene level but at a greater magnitude, where a substitution or deletion of a single base pair can be identified. Our present task is to establish a clear link between phenotype and nucleotide sequence. Obviously, a gene is no longer an imaginary entity. Recent discoveries in a number of bewildering traits, whose inheritance do not follow simple mendelian rules, have caused much amazement. For example, fragile X-syndrome, spine and bulbar muscular atrophy and myotic dystrophy arise from "triples repeat mutation" and amplification in future generations. Genetic diseases which are inherited, can now be diagnosed prenatally; an idea that was once inconceivable.
The aim of the second volume, entitled Morbid Anatomy of the Genome, is to reflect on the importance of molecular genetics in modern medicine. The field has expanded so as to warrant a volume dedicated exclusively toward understanding those who wish to know the cause, detection and in turn treatment of such diseases. In this volume, I have commissioned several scientists to contribute 12 chapters. A chapter describing a special role of molecular genetics in combating genetic diseases through gene therapy has also been included, while chapter 13 is a commentary.
A complete account of all diseases whose genetic basis is well established would be a herculean task and is not within the scope of a single volume format. Therefore a few specific topics have been chosen which may be of the greatest interest to scientists and clinicians. The purpose of this issue is to keep abreast of the latest developments in a select group of genetic diseases.

Behind the Mask of Moebius Syndrome - A Memoir (Paperback): Cristina Faragli Behind the Mask of Moebius Syndrome - A Memoir (Paperback)
Cristina Faragli
R686 R548 Discovery Miles 5 480 Save R138 (20%) Ships in 12 - 17 working days

Moebius syndrome is a rare congenital neurological disorder affecting 2 to 20 out of every 1,000,000 newborns. Patients suffer from total facial paralysis and cannot close their eyes or move them from side to side. Unable to smile, frown or otherwise express emotion, their everyday personal relationships are deeply affected. This memoir of a young woman with Moebius syndrome provides a first-person view of life ""behind the mask.

Cures - Medical Experts don't want to admit to (Hardcover): William B Mount Cures - Medical Experts don't want to admit to (Hardcover)
William B Mount
R741 Discovery Miles 7 410 Ships in 12 - 17 working days
Shéri: Just the way I am (Paperback): Sheri Brynard, Colleen Naude Shéri: Just the way I am (Paperback)
Sheri Brynard, Colleen Naude
R285 R267 Discovery Miles 2 670 Save R18 (6%) Ships in 4 - 8 working days

Shéri Brynard has reached many remarkable milestones, although she was born with Down Syndrome. She talks about how love and acceptance from her family and friends formed her. She tells of her adventures, her pain and the harsh realities she has to face as an adult with Down Syndrome. Her mother tells the tale of living in Shéri’s shadow, speaking without holding back about her crisis of faith when she heard that her daughter had Down Syndrome. A touching tale.

Me, Myself and Eye - A Memoir (Paperback): Dan Jeffries Me, Myself and Eye - A Memoir (Paperback)
Dan Jeffries
R363 Discovery Miles 3 630 Ships in 12 - 17 working days

Wyburn-Mason syndrome. Ever heard of it? Dan Jeffries has, and his insightful and hilarious memoir explores what it's like living with one of the world's rarest medical conditions - and then finding out you have another one. Told through an innovative new approach that combines the traditional reading experience with modern technology, Me, Myself & Eye really lets the reader delve into Dan's life story. Use your smart-phone, tablet or computer when you're reading the book to look at family photos, medical documents, scans, videos and even listen to music he's written over the years. Me, Myself & Eye is a memoir that is both fascinating and insightful, told with a fresh, honest and unique voice.

The Right Ventricle in Adults with Tetralogy of Fallot (Hardcover, 2012): Massimo Chessa, Alessandro Giamberti The Right Ventricle in Adults with Tetralogy of Fallot (Hardcover, 2012)
Massimo Chessa, Alessandro Giamberti
R1,604 Discovery Miles 16 040 Ships in 10 - 15 working days

Tetralogy of Fallot is the most common form of cyanotic congenital heart disease, and one of the first to be successfully repaired by congenital heart surgeons. Although "fixed", patients born with tetralogy of Fallot cannot be considered "cured". Improving survival and quality of life for this ever-increasing adult population will continue to challenge the current and future generations of cardiologists. Adult patients with tetralogy of Fallot should be seen by a cardiologist specializing in the care of adults with congenital heart disease, to be monitored for late complications. They need to be checked regularly for any subsequent complications or disturbances of heart rhythm. This monograph is intended as both an introduction to the subject and a timely, comprehensive review, and will be welcomed by adult cardiologists, pediatric cardiologists, internists, surgeons, obstetricians, and intensivists who wish to learn about the most recent discoveries and advances concerning tetralogy of Fallot in adults. It will also be of interest to advanced undergraduates wanting to learn more about the subject.

Gluten-Free Diet for Beginners - Create Your Gluten-Free Lifestyle for Vibrant Health, Wellness and Weight Loss (Hardcover):... Gluten-Free Diet for Beginners - Create Your Gluten-Free Lifestyle for Vibrant Health, Wellness and Weight Loss (Hardcover)
Kira Novac
R525 R490 Discovery Miles 4 900 Save R35 (7%) Ships in 10 - 15 working days
Human Heredity in the Twentieth Century (Hardcover): Bernd Gausemeier Human Heredity in the Twentieth Century (Hardcover)
Bernd Gausemeier
R4,721 Discovery Miles 47 210 Ships in 12 - 17 working days

The essays in this collection examine how human heredity was understood between the end of the First World War and the early 1970s. The contributors explore the interaction of science, medicine and society in determining how heredity was viewed across the world during the politically turbulent years of the twentieth century.

Teratogenicity Testing - Methods and Protocols (Hardcover, 2013 ed.): Paul C. Barrow Teratogenicity Testing - Methods and Protocols (Hardcover, 2013 ed.)
Paul C. Barrow
R6,050 Discovery Miles 60 500 Ships in 10 - 15 working days

Teratology is the study of chemical-induced birth defects. This book is a comprehensive guide to the procedures and methods commonly employed in the safety testing of all classes of chemical for teratogenicity (also referred to as embryotoxicity, developmental toxicity or prenatal toxicity). The various international regulatory requirements are explained in detail, in order that the reader may perform all of the necessary studies for the successful registration or marketing authorisation of a new pharmaceutical, industrial chemical, crop protection product or food additive. Written in the highly successful Methods in Molecular Biology (TM) series format, each chapter gives clear complete instructions on how to perform the task in hand. The authors are respected experts in their field, all with hands-on experience of the procedures described. Teratogenicity Testing: Methods and Protocols gives crucial guidance and tips on how to deal with unexpected results and overcome regulatory difficulties.

Endoscopic Craniosynostosis Surgery - An Illustrated Guide to Endoscopic Techniques (Hardcover): David F Jimenez Endoscopic Craniosynostosis Surgery - An Illustrated Guide to Endoscopic Techniques (Hardcover)
David F Jimenez
R4,264 Discovery Miles 42 640 Ships in 12 - 17 working days

Destined to be the definitive reference in this complex surgical area, Endoscopic Craniosynostosis Surgery is the first single resource to offer complete coverage of techniques, outcomes, complications, and results when treating patients with craniosynostosis endoscopically. Dr. David F. Jimenez, a pioneer in the field who has developed minimally invasive endoscopic surgeries to treat very young infants with this condition, provides all appropriate data and detailed guidance on every aspect of the management of craniosynostosis using endoscopic techniques. Covers the surgical management of every type of single suture synostosis as well as multiple and complex synostosis. Presents surgical techniques in depth, with a complete review of short- and long-term outcomes and results. Provides detailed information on patient anesthesia and how to set up the operating room for surgery. Includes detailed descriptions of helmets and their management. Features hundreds of radiographs, clinical photos, and procedural illustrations, as well as procedural videos. Discusses complication avoidance, provides surgical pearls throughout, and supplies patient information online. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access bonus images plus all of the text, figures, and references from the book on a variety of devices.

Muscular Dystrophy Therapeutics - Methods and Protocols (Hardcover, 1st ed. 2023): Rika Maruyama, Toshifumi Yokota Muscular Dystrophy Therapeutics - Methods and Protocols (Hardcover, 1st ed. 2023)
Rika Maruyama, Toshifumi Yokota
R7,882 Discovery Miles 78 820 Ships in 12 - 17 working days

This detailed book presents a comprehensive collection of state-of-the-art protocols on muscular dystrophy therapeutics, covering therapeutics using antisense oligonucleotides, gene replacement, genome editing, small molecules, stem cells, and antibodies. Written by leaders in the field, the volume explores techniques that are currently in use and are starting an exciting therapeutic revolution in muscular dystrophy. As a part of 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, as well as tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Muscular Dystrophy Therapeutics: Methods and Protocols serves as an ideal resource to inspire readers and provide tips, strategies, and advice to develop new therapeutic technologies for this group of diseases.

Living with Hereditary Cancer Risk - What You and Your Family Need to Know (Paperback): Kathy Steligo, Sue Friedman, Allison W.... Living with Hereditary Cancer Risk - What You and Your Family Need to Know (Paperback)
Kathy Steligo, Sue Friedman, Allison W. Kurian; Foreword by Matthew Boland Yurgelun
R710 Discovery Miles 7 100 Ships in 12 - 17 working days

The most comprehensive guide available on hereditary cancers, from understanding risk, prevention, and genetic counseling and testing to treatment, quality of life, and more. Up to 10 percent of cancers are caused by inherited mutations in specific genes. Finding out that you or your loved ones may be at increased risk of developing cancer because of a genetic mutation raises a lot of questions: Is cancer inevitable? Is there anything I should do differently in my life? Will my children also be at higher risk of cancer? Should I have preemptive treatments or surgery? This comprehensive guide provides answers to these questions and more. Written by three passionate patient advocates, this book is a compilation of the trusted information and support provided for more than two decades by Facing Our Risk of Cancer Empowered (FORCE), the de facto voice of the hereditary cancer community. Combining the latest scientific research with national guidelines, expert advice, and compelling patient stories, the book offers previvors (those who have a mutation but have never been diagnosed), survivors, and their families the guidance they need to face the unique physical and emotional challenges of living in a high-risk body. An ideal resource for genetic counselors, physicians, nurses, advocates, and others who support and care for the hereditary cancer community, Living with Hereditary Cancer Risk also provides coverage of * signs of inherited cancer risk in a family; * the value of genetic counseling and testing; * mutations in BRCA, Lynch Syndrome, and other genes that elevate cancer risk; * risk-reducing strategies; * traditional treatments and newer personalized approaches, including immunotherapies and PARP inhibitors; * nationally recommended guidelines for prevention, early detection, and treatment; * insurance coverage and discrimination protections; and * coping with sexual health, fertility, menopause, and other quality of life issues.

The Tricuspid Valve in Congenital Heart Disease (Hardcover, 2014 ed.): Alessandro Giamberti, Massimo Chessa The Tricuspid Valve in Congenital Heart Disease (Hardcover, 2014 ed.)
Alessandro Giamberti, Massimo Chessa
R4,493 R3,612 Discovery Miles 36 120 Save R881 (20%) Ships in 12 - 17 working days

This book is devoted solely to the tricuspid valve and its role in congenital heart disease. Tricuspid valve anomalies are part of the pathological spectrum in various congenital heart diseases, including Ebstein anomaly and tricuspid valve dysplasia, with different pathophysiology and clinical implications. This book covers all relevant aspects of such anomalies, including diagnosis, therapy and follow-up. Further topics addressed include the way in which the tricuspid valve may become the "systemic" valve in some congenital diseases, with important consequences and the involvement of the tricuspid valve in the right-sided heart complications often seen in adults with congenital heart disease. All of the chapters are written by internationally recognized experts and are designed to deliver state of the art knowledge of practical value. This book will be an important addition to the library for surgeons, cardiologists and other practitioners involved in the management of patients with congenital heart disease.

Virus vs Mankind - The Coronavirus Pandemic 2019 (Paperback): Dale Mark Kudsy Virus vs Mankind - The Coronavirus Pandemic 2019 (Paperback)
Dale Mark Kudsy
R308 Discovery Miles 3 080 Ships in 9 - 15 working days

It is the year 2019, and fear looms in on the world. A deadly virus, one with the ability and venom to wipe away half of the world's 7.8 billion people, or even extinct humanity forever, has emerged. And now, mankind must summon all the strength, knowledge, experiences, science, technology, resilience, courage, and everything else that they have at their disposal, to combat this dark, mysterious, dangerous disease and all its entities. World War III could just end up being between man and the Coronavirus Disease.

Colour Atlas of Paediatric Facial Diagnosis (Hardcover): Trevor P. Mann Colour Atlas of Paediatric Facial Diagnosis (Hardcover)
Trevor P. Mann
R2,144 R1,855 Discovery Miles 18 550 Save R289 (13%) Ships in 12 - 17 working days

This is a most valuable contribution to paediatric diagnosis which highlights the importance of this essentially visual method in the study of practical paediatric problems. Each topic consists of a concise, informative and scholarly text supported, where appropriate, by key references, many giving a historical perspective. There are over 400 high quality colour plates with descriptive legends, many of which analyse in some detail the individual features of a face regarded as abnormal or dysmorphic, often a necessary practical prerequisite to establishing a definitive diagnosis. The importance of recognising subtle expressive changes and 'facial signals' is considered in relation to emotional disorders. Throughout, the book is leavened by tables listing important diagnostic clues, cranio-facial or otherwise.

The Secret Body - How the New Science of the Human Body Is Changing the Way We Live (Hardcover): Daniel M. Davis The Secret Body - How the New Science of the Human Body Is Changing the Way We Live (Hardcover)
Daniel M. Davis
R629 R558 Discovery Miles 5 580 Save R71 (11%) Ships in 9 - 15 working days

'A perfect blend of cutting-edge science and compelling storytelling. Daniel Davis has a rare knack for making complex science comprehensible and thrilling' BILL BRYSON Welcome to a revolution in the science of you. Recent and dramatic breakthroughs in our understanding of the body will profoundly change the experience of being human in the coming century. Already they are opening up boundary-breaking possibilities for intervention at every level, from our brains and genes to our microbiomes and immune systems. These will confer unprecedented powers over health, childhood development, our cognitive and physical abilities, and affect every aspect of how we live our lives and think about ourselves. As the secrets of our bodies are revealed, we all will face previously unthinkable choices with consequences we have yet to understand. Imagine knowing years in advance the precise likelihood of developing specific cancers, thanks to a bespoke understanding of every cell in your body; following a diet and health regime tailored to your microbiome; continuous monitoring of your body's workings and well-being; taking drugs that improve your cognition and help to acquire new skills; manipulating the genes of your unborn children to eliminate disease or even enhance their capabilities. Written by an award-winning scientist at the forefront of this work, The Secret Body shows how these radical and disconcerting possibilities have been made real thanks to the ingenious technologies and decades-long collaborations of scientists worldwide. A gripping drama of discovery and a landmark account of this dawning revolution, it presents a vision of the human body of dizzying complexity, wonder and possibility. 'A beautifully rendered picture of the startling new discoveries in human biology which are radically altering our understanding of how we function and what our future holds' BRIAN COX 'An extraordinary journey that reveals the magnificence, intricacy and beauty of the human body, fundamentally changing the way we see ourselves. Masterful' ALICE ROBERTS

Sickle Cell and the Social Sciences - Health, Racism and Disablement (Hardcover): Simon Dyson Sickle Cell and the Social Sciences - Health, Racism and Disablement (Hardcover)
Simon Dyson
R4,561 Discovery Miles 45 610 Ships in 12 - 17 working days

Sickle cell disease (SCD) is a severe chronic illness and one of the world's most common genetic conditions, with 400,000 children born annually with the disorder, mainly in Sub-Saharan Africa, India, Brazil, the Middle East and in diasporic African populations in North America and Europe. Biomedical treatments for SCD are increasingly available to the world's affluent populations, while such medical care is available only in attenuated forms in Africa, India and to socio-economically disadvantaged groups in North America and Europe. Often a condition rendered invisible in policy terms because of its problematic association with politically marginalized groups, the social study of sickle cell has been neglected. This illuminating volume explores the challenges and possibilities for developing a social view of sickle cell, and for improving the quality of lives of those living with SCD. Tackling the controversial role of screening and genetics in SCD, the book offers a brief thematic history of approaches to the condition, queries the role of ethnicity and includes a discussion of how the social model of disability can be applied, as well as featuring chapters focusing on athletics, prisons and schools. Bringing together a wide range of original research conducted in the USA, the UK, Ghana and Nigeria, Sickle Cell and the Social Sciences is anchored in the discipline of sociology, but draws upon a diverse range of fields, including public health, anthropology, social policy and disability studies.

Congenital Mullerian Anomalies - Diagnosis and Management (Hardcover, 1st ed. 2016): Samantha M Pfeifer Congenital Mullerian Anomalies - Diagnosis and Management (Hardcover, 1st ed. 2016)
Samantha M Pfeifer
R3,064 Discovery Miles 30 640 Ships in 12 - 17 working days

Bringing together the most up-to-date information on congenital Mullerian anomalies, this comprehensive text explores advances in understanding the embryological causes of these malformations, the systems used to classify the many types of malformation that may be seen, and the field's current diagnosis, evaluation and management techniques. Surgical strategies, including minimally invasive techniques, are described in detail, with chapters divided into two sections: vertical anomalies, such as imperforate hymen, transverse genital septum, and cervical and Mullerian agenesis; and lateral anomalies, such as septate, unicornate and bicornate uterus, uterus didelphys and obstructed hemivagina. Aimed at helping to maintain the future reproductive needs of the patient utilizing assisted reproductive technologies, this book is an excellent reference for OB/GYN surgeons and reproductive medicine specialists treating both adolescent or adult patients with these congenital malformations.

Neurodisability and Community Child Health (Paperback, 2nd Revised edition): Srinivas Gada Neurodisability and Community Child Health (Paperback, 2nd Revised edition)
Srinivas Gada
R2,257 R1,569 Discovery Miles 15 690 Save R688 (30%) Ships in 12 - 17 working days

Containing concise, updated, and easy-to-use summaries on a comprehensive range of clinical scenarios and conditions encountered by paediatricians and multi-disciplinary professionals in their everyday practice, this new edition of Neurodisability and Community Child Health has been substantially revised to be the ideal companion for anyone working with children.

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