Organisation

Centro di Coordinamento MR FVG

City :
Udine
Phone :
+390432559890
Contact
Event organised
Italy

Centro di Coordinamento MR FVG City: Udine Phone : +390432559890

At our center we follow rare diseases both in childhood and adulthood.

In particular we clinically of the following diseases:

DISEASES LYSOSOMAL
• Gaucher disease type I, II and III
• Glycogen storage disease type II or Pompe disease
• Fabry disease
• Niemann Pick Disease Type A, B and C
• Gangliosidosis GM 1
• Gangliosidosis GM2 (Sandhoff disease, Tay Sachs disease and deficit GM2 activator)
• Deficit Limp-2
• Deficit Saposina
• Mucopolysaccharidosis (MPS I disease-Hurler, Scheie, Hurler-Scheie, MPS II disease-Hunter;-MPS III Sanfilippo disease; MPS IV Morquio disease;)
• Mannosidosis
• Syndrome AMRF (Action Myoclonus-Renal Failure)
• Sialidosis
• Galattosidosi
• Fucosidosis
• Disease Wolman
• metachromatic leukodystrophy
• Krabbe disease
• Disease Danon
• Cystinosis

OTHER DISEASES Metabolic
• disorders of amino acid metabolism
• disorders of carbohydrate metabolism
• Disorders of fatty acid metabolism
• disorders of lipoprotein metabolism
• Disorders of the metabolism of vitamins and cofactors
• disorders of protein glycosylation
• Mitochondrial diseases
• Diseases of the peroxisomes

DISEASES OSTEOCONNETTIVALI
• Osteogenesis imperfecta
• Elhers Danlos
• Marfan Syndrome

CHROMOSOMAL ANOMALIES DISEASES
• Williams Syndrome

OTHER DISEASES HEREDITARY
• Neurofibromatosis


http://malattierare.aou.udine.it/
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