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Sanjay Patel (name changed) is five-and-a-half-year-old and has an enlarged spleen, curved legs and his physical and mental development is way below his age. The child was identified as suffering from Lysosomal Storage Disorders (LSD). There is hope
Font Resize Batten disease, named after the British doctor who first described it in 1903, is a lysosomal storage disorder that causes the breakdown of a body's neurological capabilities. In layman's terms, the fatal disease is caused by a mutated
The Goa government has decided to scrap the scheme to medically screen all new born babies in the state through a private agency. State health minister Laxmikant Parsekar told the state legislative assembly that Goa was spending Rs. Primary Health
Medunik executive vice-president Eric Gervais said, "This new strategic collaboration complements our existing alliances and represents an important milestone in our endeavor to help patients with a rare disease in Canada to benefit from the best
Pompe Disease as part of the commemoration of Pompe day at Press Club on Friday. Experts feel there is need to create awareness on Pompe disease...However, it is a fatal disorder that disables the heart and skeletal muscles. Dr Meenakshi Bhat,
FDA-approved adjunctive therapy for the chronic management of patients with urea cycle disorders due to deficiencies in carbamylphosphate synthetase (CPS), ornithine transcarbamylase (OTC), and argininosuccinic acid synthetase (AS).
KEM hospital, observed International Rare Disease Day on Wednesday, February 29, 2012. The objective was to spread awareness about the extremely rare Lysosomal Storage Disorder (LSD)...There's no database of LSD patients in India, but the number is
The campaign, in conjunction with the World Rare Disease Day yesterday, ends on July 25. May to raise public awareness about the life-threatening LSD...As this condition is so rare, it is often misdiagnosed or overlooked, which causes crucial
Australians is afflicted with a rare disease but sufferers often feel they are ignored or given wrong medical treatment. Today is Rare Diseases Day, designed to raise public awareness and win greater access to health care for those with such diseases.
But unlike other children of her age, who may boast of glittering accomplishments, she doesn't enjoy the luxury of leading a normal lifeshe is suffering from Pompe , a rare genetic disorder, which has made her wheelchair-bound for the last nine years.