Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease

Author:

Mackenbach Maarten J.1,Willemse Eline A.J.1ORCID,van den Dorpel Jan J.A.1ORCID,van der Beek Nadine A.M.E.1ORCID,Díaz-Manera Jordi1,Rizopoulos Dimitris1,Teunissen Charlotte1ORCID,van der Ploeg Ans T.1,van den Hout Johanna M.P.1ORCID

Affiliation:

1. From the Center for Lysosomal and Metabolic Diseases (M.J.M., J.J.A.v.d.D., A.T.v.d.P., J.M.P.v.d.H.), Department of Paediatrics, Erasmus University Medical Center, Rotterdam; Neurochemistry laboratory (E.A.J.W., C.T.), Department of Clinical Chemistry, Amsterdam Neuroscience, Amsterdam University Medical Centres, VU University, the Netherlands; Departments of Biomedizin and Neurology (E.A.J.W.), MS Center and Research Center for Clinical Neuroimmunology and Neuroscience (RC2NB), University Hospital...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Reference40 articles.

1. Pompe's disease

2. Reuser AJ, Hirschhorn R, Kroos MA. Pompe disease: glycogen storage disease type II, acid alpha-glucosidase (acid maltase) deficiency. In: The Online Metabolic & Molecular Bases of Inherited Disease. McGraw Hill; 2018.

3. Glycogen disease resembling mongolism, cretinism, and amytonia congenita; case report and review of literature;Clement DH;J Pediatr,1950

4. Nervous system in Pompe's disease. Ultrastructure and biochemistry;Gambetti P;J Neuropathol Exp Neurol,1971

5. A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease;Kishnani PS;J Pediatr,2006

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