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β‐Galactosidase deficiency in the GLB1 spectrum of lysosomal storage disease can present with severe muscle weakness and atrophy

  • Published:2022-09-06 Issue:6 Volume:63 Page:540-545
  • ISSN:2192-8312
  • Container-title:JIMD Reports
  • language:en
  • Short-container-title:JIMD Reports

Author:

Pedersen Jonas Jalili1ORCID,Duno Morten2,Wibrand Flemming3,Hammer Christian4,Krag Thomas1,Vissing John1

Affiliation:

1. Copenhagen Neuromuscular Center, Department of Neurology Rigshospitalet, University Hospital Copenhagen Copenhagen Denmark

2. Molecular Genetic Laboratory, Department of Clinical Genetics Rigshospitalet, University Hospital Copenhagen Copenhagen Denmark

3. Metabolic Laboratory, Department of Clinical Genetics Rigshospitalet, University Hospital Copenhagen Copenhagen Denmark

4. Diagnostic Center, Department of Radiology Rigshospitalet, University Hospital Copenhagen Copenhagen Denmark

Publisher

Wiley

Subject

Biochemistry, Genetics and Molecular Biology (miscellaneous),Endocrinology, Diabetes and Metabolism,Internal Medicine

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