Cardiovascular Therapy: 黑料网
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Madhu KJ
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Dysostosis Multiplex (Gm-1 Gangliosidosis: Type II)
GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder characterized by the generalized accumulation of GM1 ganglioside, oligosaccharides, and the mucopolysaccharide keratan sulfate (and their derivatives). Deficiency of the lysosomal hydrolase, acid β -galactosidase, causes GM1 gangliosidosis. GM1 gangliosidosis is a rare dis... Read More»
Madhu KJ, Vijyalakshmi IB, Chitra Narsimhan and CN Manjunath
Case Report: Cardiovasc Ther 2016, 1: 102
Abstract Peer-reviewed Full Article Peer-reviewed Article PDF Mobile Full Article
Carvajal Syndrome: A Rare Variant of Naxos Disease
Carvajal syndrome also known as ‘Striate palmoplantar keratoderma with woolly hair and cardiomyopathy is a cutaneous condition inherited in an autosomal recessive pattern due to a defect in desmoplakin gene. The skin disease presents as a striate palmoplantar keratoderma particularly at sites of pressure. The patient is at risk of sudden card... Read More»
Madhu KJ, Vijyalakshmi IB, Chitra Narsimhan and CN Manjunath
Case Report: Cardiovasc Ther 2016, 1: 103
Abstract Peer-reviewed Full Article Peer-reviewed Article PDF Mobile Full Article
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