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Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.

Neuropediatrics - 1 Feb 2022

Holzwarth Johanna, Minopoli Nadja, Pfrimmer Charlotte, Smitka Martin, Borrel Sabine, Kirschner Janbernd, Muschol Nicole, Hartmann Hans, Hennermann Julia B, Neubauer Bernd A, Hobbiebrunken Elke, Husain Ralf A, Hahn Andreas

Abstract excerpt

Little is known about clinical symptomatology and genetics of juvenile onset Pompe disease (JOPD). The aims of this study were to analyze how these children are diagnosed, what clinical problems they have, and how phenotype is related to genotype. To accomplish this, we analyzed retrospectively data of 34 patients diagnosed after their first and before completion of their 18th birthday. Median age at diagnosis...

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PMID: 34852371
DOI: 10.1055/s-0041-1735250

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