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Rare Diseases: Children’s Hospital Of Pittsburgh Establishes New Center

February 8, 2015

The Children’s Hospital of Pittsburgh of UPMC (University of Pittsburgh Medical Center) announces recently the establishment of a Center for Rare Disease Therapy. The Center for Rare Disease Therapy focuses on providing treatments for infants through young adults, from around the world, who are diagnosed with rare diseases.

More than 5 years ago, Children’s Hospital of Pittsburgh is the first hospital to develop a liver transplant protocol for patients with the rare disease, Maple Syrup Urine Disease (MSUD). More than 50 children have had this type of surgery.

For more information on the Center for Rare Disease Therapy, visit the website.

Currently, the Center treats more than 25 rare conditions, including the following:

•    Adrenoleukodystrophy
•    Alpha-1-Antitrypsin (AT) Deficiency
•    Bare Lymphocyte Syndrome (BLS)
•    Byler Disease
•    Chronic Granulomatous Disease (CGD)

•    Chronic Pancreatitis and Acute Recurrent Pancreatitis
•    Combined Immune Deficiency (CID) Syndromes
•    Combined Variable Immune Deficiency(CVID) Syndrome
•    Fatty Acid Oxidation Deficiencies
•    Glutaric Acidemia Type 1

•    Glycogen Storage Disorders
•    GM3 Synthase Deficiency
•    Hemophagocytic Lymphohistiocytosis (HLH) Syndromes
•    Hunter Syndrome (MPS-II)
•    Hurler Syndrome (MPS-I)

•    Krabbe Disease
•    Maple Syrup Urine Disease (MSUD)
•    Metachromatic Leukodystrophy
•    Methylmalonic Acidemia
•    Niemann-Pick Disease Type C

•    Phenylketonuria (PKU)
•    Progressive Familial Intrahepatic Cholestasis
•    Propionic Acidemia
•    Sanfilippo Syndrome (MPS-III)
•    Severe Combined Immune Deficiency (SCID)

•    Urea Cycle Disorders
•    Vanishing White Matter Disease.

Please Note:Dandelion Sisters” by US Nessie (Own work) [CC BY-SA 3.0 | via Wikimedia Commons.

Copyright © 2012-2015, Orphan Druganaut Blog. All rights reserved.

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