Rare Diseases India

@rarediseasesind

This is a public awareness initiative by Sanofi Genzyme India on issues. For India residents only.

Vrijeme pridruživanja: lipanj 2017.

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  1. 3. velj

    MPS I is a hereditary metabolic disease. A diagnosis of MPS I is based upon identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests.

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  2. 31. sij

    Symptoms of Pompe disease can manifest shortly after birth, in which case the condition is called classic infantile Pompe disease. They can also appear by the first year of life.

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  3. 27. sij

    The main treatment for severe Hemophilia involves blood transfusion and receiving replacement of the specific clotting factors as injections(2/2)

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  4. 27. sij

    Absence of several different types of clotting factors in the blood are associated with different varieties of Hemophilia. (1/2)

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  5. 24. sij

    Gaucher disease is a rare inborn error in the body’s metabolism. Hence, early treatment initiation could help patients prevent permanent damage to the body.

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  6. 21. sij

    In late-onset Pompe disease, symptoms in an adult start as late as the 60s. It usually does not affect the patient’s heart.

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  7. 20. sij

    In India, Gaucher type 3 is common where patients have neurological involvement besides affecting the liver, spleen and bone

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  8. 17. sij

    Involving a misdiagnosis and a surgery to remove his spleen, Abhishek is now getting better. Read about his journey with disease.

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  9. 16. sij

    Pompe disease symptoms are similar to other medical conditions. To help figure out what's going on, your doctor may ask

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  10. Hemophilia is an inherited bleeding disorder that causes abnormal or exaggerated bleeding and poor blood clotting. This disorder varies in its severity amongst affected individuals.

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  11. Fabry disease can be difficult to diagnose as it is rare. A test could help detect the presence of the mutation for Fabry disease in males. Because Fabry disease can affect many different organs, a team of specialists should be consulted.

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  12. Fabry disease is a rare inherited disorder caused by a defective gene. Genetic mutation for Fabry disease is passed from a parent to a child. This reinforces the importance of family screening in diagnosis.

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  13. Pompe disease is a chronic condition. Specific treatment is available and a few life adjustments, like the ones mentioned, can help make patients’ lives better.

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  14. Thalassemia is an inherited blood disorder. Treatment for Thalassemia depends on the type and severity of the disease. The best course of treatment can be decided after consulting with a doctor.

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  15. Treatment has worked wonders for George. He loves sports and is an ardent fan of cricket and football. George is afflicted with Fabry disease. Read his story.

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  16. In Hemophilia, patients with mild deficiency could bleed in case of trauma while patients with a severe deficiency may bleed without a cause.

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  17. Treatment has transformed the life of Meneni Jaivant. He is afflicted with MPS I. Read his story.

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  18. Bone problems are common in patients with Gaucher disease. Early treatment can help minimize permanent damage to the bones and joints.

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  19. The signs and symptoms of MPS I may not be apparent at birth, but they begin to appear mostly during?

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  20. Thalassemia disease can be managed by following a treatment plan and adopting healthy living habits.

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