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KMID : 1146120180040010001
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Journal of Mucopolysaccharidosis and Rare Diseases
2018 Volume.4 No. 1 p.1 ~ p.6
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Lysosomal Storage Disorders in India: A Mini Review
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Gupta Neerja
Aggarwal Bhawana
Kabra Madhulika
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Abstract
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Lysosomal storage disorders are a group of rare inherited metabolic disorders with protean manifestations and variable severity ranging from attenuated forms to severe ones. It is necessary to diagnose and manage these disorders timely before irreversible damage occurs. Prior to the era of enzyme replacement therapy and newer therapeutics, only treatment option available was palliative care. Over the past two decades, extensive research in the lysosomal storage disorders has led to substantial expansion of our understanding about them. This mini review focusses on the spectrum, challenges faced in the diagnosis and therapy and remedial actions taken so far in lysosomal storage disorders in resource constrained country like India.
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KEYWORD
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Lysosomal storage disorders, Enzyme replacement therapy, India
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