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Ehlers-Danlos syndrome: From bedside to bench
  • Language: en
  • Pages: 105

Ehlers-Danlos syndrome: From bedside to bench

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Cassidy and Allanson's Management of Genetic Syndromes
  • Language: en
  • Pages: 1104

Cassidy and Allanson's Management of Genetic Syndromes

MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routin...

Advancing genomics for rare disease diagnosis and therapy development vol II
  • Language: en
  • Pages: 400
Current Genetics in Dermatology
  • Language: en
  • Pages: 172

Current Genetics in Dermatology

This book presents current topics in genetics in the dermatologic field. Various skin disorders are inherited as mendelian inheritance. Genetic skin disorders are caused by mutations in the genes encoding proteins expressing in skin, skin appendages, melanocytes and immune-associated cells. Identification of genes and elucidation of function of the encoded proteins may provide novel strategies to overcome the disorders. We hope that this book offers sufficient current information in each disorder to scientists, physicians and dermatologists, and that novel therapies will be provided to affected individuals via these chapters.

Progress in Heritable Soft Connective Tissue Diseases
  • Language: en
  • Pages: 246

Progress in Heritable Soft Connective Tissue Diseases

This volume is a reference handbook focusing on diseases like Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome and other heritable soft connective tissue diseases. The book presents detailed information for both basic scientists and for clinicians seeing patients. It is also a stepping stone for new investigations and studies that goes beyond the facts about the composition and biochemistry of the connective tissue and extracellular matrix, as the authors connect individual components to specific aspects of various soft tissue disorders and to the actual or potential treatment of them. Progress in Heritable Soft Connective Tissue Diseases features very prominent physicians and s...

Osteoporotic Fracture and Systemic Skeletal Disorders
  • Language: en
  • Pages: 569

Osteoporotic Fracture and Systemic Skeletal Disorders

This edited book describes what fragile bone is, how the condition is assessed, and how it can be treated. It is intended for multi-professional trainees and practitioners in health and social care fields who care for and treat the elderly. Chapters within the book provide the latest advances in cell and molecular biology, morphology, radiology, and the biomechanics of bone in health and disease. The basic concept of “Remodeling” and “Modeling” is described for better understanding of the mechanisms of osteoporosis. Methods of identifying and assessing osteoporosis are described, as are risk factors for bone fracture and non-unions. Furthermore, the effects of various drugs used to treat osteoporosis at both material and structural levels of bone and their cost effectiveness are described. Operative treatments for fracture that maintain or improve the quality of life of patients are included Treatment of Osteoporotic Fracture and Systemic Skeletal Disorders attempts to provide a holistic and translational view of the pathogenesis and treatment of osteoporosis and some other musculoskeletal diseases, with an overview of treatment modalities in various clinical settings.

Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders
  • Language: en
  • Pages: 218

Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders

  • Type: Book
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  • Published: 2020-12-14
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  • Publisher: MDPI

Ehlers–Danlos syndromes (EDS) are a group of heritable connective tissue disorders (HCTDs) characterized by a variable degree of skin hyperextensibility, joint hypermobility and tissue fragility. The current EDS classification distinguishes 13 subtypes and 19 different causal genes mainly involved in collagen and extracellular matrix synthesis and maintenance. EDS need to be differentiated from other HCTDs with a variable clinical overlap, including Marfan syndrome and related disorders, some types of skeletal dysplasia and cutis laxa. The clinical recognition of EDS is not always straightforward, and, for a definite diagnosis, molecular testing can be of great assistance, especially in pa...

Glycosaminoglycans and Proteoglycans
  • Language: en
  • Pages: 247

Glycosaminoglycans and Proteoglycans

  • Type: Book
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  • Published: 2018-07-04
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  • Publisher: MDPI

This book is a printed edition of the Special Issue "Glycosaminoglycans and Proteoglycans" that was published in Pharmaceuticals

Molecular Basis of Inherited Diseases in Companion Animals
  • Language: en
  • Pages: 232

Molecular Basis of Inherited Diseases in Companion Animals

  • Type: Book
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  • Published: 2021-04-08
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  • Publisher: MDPI

This book includes a collection of publications describing the molecular etiology of inherited diseases and conditions in companion animals (dogs and cats). In addition to contributing to the health of companion animals, this research also benefits humans that have similar types of diseases.