HUM-MOLGEN DIAGnostics/Clinical Research


Iduronate sulphatase deficiency

Dear Sir/Madam: I have received a request from a family in Argentina that has a young boy that has been diagnosed with a mucopolyssacharidosis, most likely iduronate 2 sulphatase deficiency. Can you please let me know if there is any new treatment available and lab. test to confirm the diagnosis?. They are havin ga hard time getting current information on possible treatment and specialists due to the rarity of the dissease. Sincerely Dr. Gabriela Dveksler