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Pompe disease belongs to a group of diseases known as the ‘lysosomal storage disorders’ (LSDs).Lysosomes are small compartments inside the cells wherein all kind of substances are re-cycled.In Pompe, that is manifested as muscle weakness and wasting.

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Giacomo con Museo del Castagno Borgo cinquecentesco di Dragodena Resti castello Montetortore Borgo di Montalto Vecchio e chiesa di S.

Giorgio Dove si imbocca Dal centro di Montombraro imboccare via Serre.

E’ dunque un escursione indicata per chi desidera passare alcune ore in assoluta tranquillità a totale contatto con la natura.

Tra l’altro il percorso tocca il bosco di Monte San Giacomo, una delle perle naturalistiche del territorio.

These problems together culminate in cardio-respiratory failure within the first 2 years of life.

Many infants have a large, protruding tongue and a moderate enlargement of the liver.Introduction The human body can be seen as an assembly of interconnecting organs.Organs are composed of organ specific tissues, and tissues are composed of specialized cells like muscle cells, nerve cells, etc.The legs often rest in a frog position and feel firm on palpation (pseudo-hypertrophy).Feeding and swallowing problems as well as respiratory difficulties, which are often combined with respiratory tract infections, are common. The classic infantile form of Pompe disease is characterized by a total lack of acid alpha-glucosidase (GAA) activity and by a rapid buildup of glycogen in skeletal muscle and heart.Da vedere La natura Castagneto secolare di Montombraro Bosco delle betulle pendule a S.

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