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Maroteaux Lamy syndrome and Hurler-Scheie syndrome
35,99 € *
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Maroteaux Lamy syndrome and Hurler-Scheie syndrome ab 35.99 € als Taschenbuch: . Aus dem Bereich: Bücher, Wissenschaft, Medizin,

Anbieter: hugendubel
Stand: 30.11.2020
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Maroteaux Lamy syndrome and Hurler-Scheie syndrome
35,90 € *
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The diagnosis of rare genetically inherited metabolic disorders such as mucopolysaccharidoses is complicated by the lack of confirmatory sophisticated laboratory tests in many regions of the world such as Iraq. In the developed countries, the diagnosis of mucopolysaccharidoses relies on urine tests for excessive mucopolysaccharides and enzyme assays. However, theses tests are not available in many areas of world such as Iraq, and the diagnosis has to be made on clinical findings. Clinical diagnosis of rare disorders like mucopolysaccharidoses demands tremendous clinical skills and extensive experience because of the similarity between different types of mucopolysaccharidoses. The emergence of the new enzyme replacement therapies for some types of mucopolysaccharidoses raises the importance of the clinical diagnosis of such disorders to give the patients the chance to have the new therapy in an other country when this is possible. Maroteaux-Lamy syndrome and Hurler-Scheie syndrome have not been described or documented in Iraqi patients. The aim of this book is to describe the clinical diagnosis of these disorders in patients from Iraq.

Anbieter: Dodax
Stand: 30.11.2020
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Lysosomal Storage Disorders
233,90 CHF *
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The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. Research of these disorders has moved from diseases with unknown etiology to disorders with clear and defined pathophysiology and some of them have benefited from the development of disease specific therapeutics. Lysosomal Biology and Storage Disorders describes the nature of the diseases, the historical evolution of the field and future perspectives for the treatment of these clinical entities. Organized as a textbook, Lysosomal Biology and Storage Disorders describes the nature of lysosomal dysfunction, the synthesis and targeting of lysosomal enzymes and the implications of the targeting mechanisms for the development of new therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area. TOC:From Lysosomes to Storage Diseases and Back: A Personal Reminiscence.- Lysosomal Biogenesis and Disease.- The Concept of Treatment in Lysosomal Storage Diseases.- Complex Lipid Catabolism.- Retroviral Vectors for Gene Therapy.- Adenovirus in Gene Therapy.- Setting Back the Clock: Adenoviral-Mediated Gene Therapy for Lysosomal Storage Disorders.- Adeno-Associated Viral-Mediated Gene Therapy of Lysosomal Storage Disorders.- Herpes Simplex Virus Vectors for Gene Therapy of Lysomal Storage Disorders.- Gene Therapy of Lysosomal Storage Disorders by Lentiviral Vectors.- Substrate Reduction Therapy.- Newborn Screening for Lysosomal Storage Disorders.- Genetic Counseling for Lysosomal Storage Diseases.- Neural Stem Cell Therapy in Lysosomal Storage Disorders.- The GM1 Gangliosidoses.- The GM2 Gangliosidoses.- Acid Sphingomyelinase-Deficient Niemann-Pick Disease.- Krabbe Disease (Globoid Cell Leukodystrophy).- Metachromatic Leukodystrophy.- Fabry Disease.- Gaucher Disease: Review and Perspectives on Treatment.- Therapeutic Goals in the Treatment of Gaucher Disease.- The Neuronal Ceroid Lipofuscinoses: Clinical Features and Molecular Basis of Disease.- Mucopolysaccharidosis I.- Mucopolysaccharidosis II.- Sanfilippo Syndrome: Clinical Genetic Diagnosis and Therapies.- Mucopolysaccharidosis IV (Morquio Syndrome; MPS IV).- Mucopolysaccharidosis Type VI (MPS VI, Maroteaux-Lamy Syndrome).- Mucopolysaccharidosis Type VII (Sly Disease): Clinical, Genetic Diagnosis and Therapies.- Pompe Disease-Glycogenosis Type II: Acid Maltase Deficiency.- Lysosomal Free Sialic Acid Storage Disorders: Salla Disease and ISSD.- Cystinosis.- I-Cell Disease.

Anbieter: Orell Fuessli CH
Stand: 30.11.2020
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Lysosomal Storage Disorders
198,00 € *
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The knowledge of lysosomal biology and the consequences of its dysfunction have increased dramatically in the past 60 years. Research of these disorders has moved from diseases with unknown etiology to disorders with clear and defined pathophysiology and some of them have benefited from the development of disease specific therapeutics. Lysosomal Biology and Storage Disorders describes the nature of the diseases, the historical evolution of the field and future perspectives for the treatment of these clinical entities. Organized as a textbook, Lysosomal Biology and Storage Disorders describes the nature of lysosomal dysfunction, the synthesis and targeting of lysosomal enzymes and the implications of the targeting mechanisms for the development of new therapies. Disease specific chapters provide thorough reviews of the clinical features of lysosomal storage disorders, their molecular basis and the commercial or experimental therapeutic approaches sought in this area. TOC:From Lysosomes to Storage Diseases and Back: A Personal Reminiscence.- Lysosomal Biogenesis and Disease.- The Concept of Treatment in Lysosomal Storage Diseases.- Complex Lipid Catabolism.- Retroviral Vectors for Gene Therapy.- Adenovirus in Gene Therapy.- Setting Back the Clock: Adenoviral-Mediated Gene Therapy for Lysosomal Storage Disorders.- Adeno-Associated Viral-Mediated Gene Therapy of Lysosomal Storage Disorders.- Herpes Simplex Virus Vectors for Gene Therapy of Lysomal Storage Disorders.- Gene Therapy of Lysosomal Storage Disorders by Lentiviral Vectors.- Substrate Reduction Therapy.- Newborn Screening for Lysosomal Storage Disorders.- Genetic Counseling for Lysosomal Storage Diseases.- Neural Stem Cell Therapy in Lysosomal Storage Disorders.- The GM1 Gangliosidoses.- The GM2 Gangliosidoses.- Acid Sphingomyelinase-Deficient Niemann-Pick Disease.- Krabbe Disease (Globoid Cell Leukodystrophy).- Metachromatic Leukodystrophy.- Fabry Disease.- Gaucher Disease: Review and Perspectives on Treatment.- Therapeutic Goals in the Treatment of Gaucher Disease.- The Neuronal Ceroid Lipofuscinoses: Clinical Features and Molecular Basis of Disease.- Mucopolysaccharidosis I.- Mucopolysaccharidosis II.- Sanfilippo Syndrome: Clinical Genetic Diagnosis and Therapies.- Mucopolysaccharidosis IV (Morquio Syndrome; MPS IV).- Mucopolysaccharidosis Type VI (MPS VI, Maroteaux-Lamy Syndrome).- Mucopolysaccharidosis Type VII (Sly Disease): Clinical, Genetic Diagnosis and Therapies.- Pompe Disease-Glycogenosis Type II: Acid Maltase Deficiency.- Lysosomal Free Sialic Acid Storage Disorders: Salla Disease and ISSD.- Cystinosis.- I-Cell Disease.

Anbieter: Thalia AT
Stand: 30.11.2020
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