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    • genetic disorder

    Tag: genetic disorder

    You Searched For "genetic disorder"
    New drug nusinersen found effective in  children with spinal muscular atrophy

    New drug nusinersen found effective in children with spinal muscular atrophy

    Anjali Nimesh Nimesh17 Feb 2018 7:30 PM IST
    A new medication nusinersen has been found effective in children with spinal muscular atrophy.When treated with it children with later-onset spinal...
    Only 40% of people with dangerously high cholesterol on  appropriate drug treatment

    Only 40% of people with dangerously high cholesterol on appropriate drug treatment

    Dr. Kamal Kant Kohli Kohli26 March 2018 7:02 PM IST
    National Cholesterol Education Program’s Adult Treatment Panel III (ATP-III guidelines) and the current American College of Cardiology and American...
    Gene Therapy to reduce blood transfusions need in Thalassemia : NEJM

    Gene Therapy to reduce blood transfusions need in Thalassemia : NEJM

    Anjali Nimesh Nimesh19 April 2018 8:00 PM IST
    Beta-thalassemia is a genetic disorder characterized by reduced or negligible production of hemoglobin's beta chains. People suffering from severe...
    Cinryze approved for treatment of hereditary angioedema in children

    Cinryze approved for treatment of hereditary angioedema in children

    Medha Baranwal Baranwal28 Jun 2018 8:20 PM IST
    The biotechnology company Shire announced that the U.S. Food and Drug Administration (FDA) has approved Cinryze (C1 esterase inhibitor), for...
    New genetic disorder identified for the first time in human patient

    New genetic disorder identified for the first time in human patient

    Hina Zahid26 Sept 2018 7:05 PM IST
    A genetic disorder only previously described in animal models has been identified for the first time in a human patient by researchers from Michigan...
    New Drug for celiac disease -Gluten free diet no more

    New Drug for celiac disease -Gluten free diet no more

    Dr. Kamal Kant Kohli Kohli27 Sept 2018 8:28 PM IST
    Researchers at TU Wien, Vienna University of Technology have developed a medication that can alleviate or even completely eliminate the symptoms of...
    All about Fanconi anemia- Dr Gunjan Makkar

    All about Fanconi anemia- Dr Gunjan Makkar

    Hina Zahid30 April 2019 7:03 PM IST
    Fanconi anaemia is the most frequently reported of the rare inherited bone marrow failure syndromes (IBMFSs).Approximately only 2000 cases of the...
    Recurrent Syncope, a rare presentation of Gitelmans syndrome: JAPI

    Recurrent Syncope, a rare presentation of Gitelman's syndrome: JAPI

    Deepanjana Sarkar20 Sept 2019 6:00 PM IST
    A case of a 59-year-old male who was presented with a history of recurrent syncope and later diagnosed Gitelman's syndrome was reported in the Journal...
    Management of hereditary hemochromatosis- New guidelines released by American college of gastroenterology

    Management of hereditary hemochromatosis- New guidelines released by American college of gastroenterology

    Deepanjana Sarkar27 Sept 2019 7:00 PM IST
    First-degree relatives of hereditary hemochromatosis patients must be screened for the disease, recommend new ACG guidelines. The American college of...
    Unusual case of Green Urine reported in Journal of PGI

    Unusual case of Green Urine reported in Journal of PGI

    Deepanjana Sarkar29 Sept 2019 6:00 PM IST
    Recently, a very unusual and intriguing case of a 36- year old man who upon ingesting methylene blue excreated green urine, was reported in the...

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