Keywords
Citation
(2012), "Neurochemistry of Metabolic Diseases – Lysosomal Storage Diseases, Phenylketonuria & Canavan Disease", International Journal of Health Care Quality Assurance, Vol. 25 No. 7. https://doi.org/10.1108/ijhcqa.2012.06225gaa.012
Publisher
:Emerald Group Publishing Limited
Copyright © 2012, Emerald Group Publishing Limited
Neurochemistry of Metabolic Diseases – Lysosomal Storage Diseases, Phenylketonuria & Canavan Disease
Neurochemistry of Metabolic Diseases – Lysosomal Storage Diseases, Phenylketonuria & Canavan Disease
Article Type: Recent publications From: International Journal of Health Care Quality Assurance, Volume 25, Issue 7
Sankar Surendran,Nova Science Publishers Inc,ISBN: 978-1-612-09671-1,March 2012
Keywords: Metabolic disease management, Lysosomal storage disease detection, Multi-ethnic healthcare development
Metabolic disorder is caused by a gene defect, environmental factors or an unknown aetiology. Altered metabolism caused by these factors affects normal function of various organs including the brain and may lead to abnormal phenotype. Understanding agents of causing these abnormalities is useful to interpret possible targets in these diseases. This book reveals what factors contribute in lysosomal storage diseases, Phenylketonuria and Canavan disease, as they are major emerging diseases in multiethnic populations.
Contents include:
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Sialidosis: pathophysiology and therapeutic approaches.
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Gaucher disease and therapeutic approaches.
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Parkinson’s disease: molecular changes and therapeutic approaches.
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Ataxia-telangiectasia: clinical symptoms and therapeutic approaches.
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Rett syndrome and therapeutic approaches.
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Krabbe disease and therapeutical approaches.
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Gangliosidoses: molecular pathology and therapeutic approaches; enzyme replacement therapy for lysosomal storage diseases.
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Cell-based gene therapy for lysosomal storage diseases.
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Biomarkers for lysosomal storage disorders.
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PKU in Turkey: screening, diagnosis and management.
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Phenylketonuria and therapeutic approaches.
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Canavan disease: molecular pathology, phenotype and therapeutic approaches.