Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy

Recombinant human acid α-glucosidase (rhGAA) enzyme replacement therapy (ERT) has prolonged survival in infantile Pompe disease (IPD), but has unmasked central nervous system (CNS) changes. Brain imaging, consisting of computed tomography (CT) and/or magnetic resonance imaging (MRI), was performed o...

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Bibliographic Details
Published in:	Molecular genetics and metabolism Vol. 123; no. 2; pp. 85 - 91
Main Authors:	McIntosh, Paul T., Hobson-Webb, Lisa D., Kazi, Zoheb B., Prater, Sean N., Banugaria, Suhrad G., Austin, Stephanie, Wang, Raymond, Enterline, David S., Frush, Donald P., Kishnani, Priya S.
Format:	Journal Article
Language:	English
Published:	United States Elsevier Inc 01-02-2018
Subjects:	Acid maltase deficiency Adolescent Alglucosidase alfa alpha-Glucosidases - administration & dosage Blood-brain barrier Brain - diagnostic imaging Central nervous system Child Child, Preschool Enzyme Replacement Therapy Female Glycogen storage disease type II Glycogen Storage Disease Type II - diagnostic imaging Glycogen Storage Disease Type II - enzymology Glycogen Storage Disease Type II - therapy Humans Infant Male MRI Neuroimaging Neuroimaging - methods Neuromuscular diseases Pompe disease rhGAA Treatment Outcome Pompe disease Neuroimaging CT Glycogen storage disease type II Neuromuscular diseases Blood-brain barrier Alglucosidase alfa Enzyme replacement therapy MRI Central nervous system rhGAA Acid maltase deficiency
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