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Molecular basis, diagnosis and clinical management of mucopolysaccharidoses

Mucopolysaccharidoses (MPSs) are a group of hereditary, monogenic disorders caused by lysosomal storage of glycosaminoglycans. Their incidence as a group is between 1:25,000 and 1:45,000. At present 11 different enzyme deficiencies are know to be responsible of 7 similar but distinct diseases. The d...

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Bibliografiset tiedot
Päätekijät: Rossella Parini, Francesca Bertola, Pierluigi Russo
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: MDPI AG 2013-02-01
Sarja:Cardiogenetics
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Linkit:http://www.pagepressjournals.org/index.php/cardiogen/article/view/643
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