About Centro di Coordinamento MR FVG
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