Immune Modulation Therapy in a CRIM-Positive and IgG Antibody-Positive Infant with Pompe Disease Treated with Alglucosidase Alfa: A Case Report

Pompe disease is characterized by deficiency or absence of activity of the lysosomal enzyme acid alpha-glucosidase. As a result of ineffective metabolism, glycogen progressively accumulates in muscle tissues. Patients with an aggressive classic infantile-onset form generally rapidly die of cardiores...

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Autors principals: Markic, Josko, Polic, Branka, Kuzmanic-Samija, Radenka, Marusic, Eugenija, Stricevic, Luka, Metlicic, Vitomir, Mestrovic, Julije
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2011
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3509833/
https://ncbi.nlm.nih.gov/pubmed/23430847
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_34
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