Lysosomal Storage Disorders

• Κύριοι συγγραφείς: Barranger, John A. (Συγγραφέας), Cabrera-Salazar, Mario A. (Συγγραφέας)
• Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
• Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
• Γλώσσα: English
• Έκδοση: Boston, MA : Springer US, 2007.
• Θέματα: Life sciences.; Human genetics.; Epidemiology.; Biochemistry.; Cell biology.; Life Sciences.; Cell Biology.; Human Genetics.; Biochemistry, general.

Lysosomal Biology and Storage Disorders John A. Barranger and Mario A. Cabrera-Salazar 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 w...

Πίνακας περιεχομένων:

• 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 Lysosomal 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 (Hunter Syndrome)
• Sanfilippo Syndrome: Clinical Genetic Diagnosis and Therapies
• Mucopolysaccharidosis IV (Morquio Syndrome)
• Mucopolysaccharidosis Type 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.