Long‐term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort

Multiple sulfatase deficiency (MSD) is a lysosomal storage disease caused by a deficiency of formylglycine‐generating enzyme due to SUMF1 defects. MSD may be misdiagnosed as metachromatic leukodystrophy (MLD), as neurological and neuroimaging findings are similar, and arylsulfatase A (ARSA) deficien...

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Dades bibliogràfiques
Publicat a:JIMD Rep
Autors principals: Beck‐Wödl, Stefanie, Kehrer, Christiane, Harzer, Klaus, Haack, Tobias B., Bürger, Friederike, Haas, Dorothea, Rieß, Angelika, Groeschel, Samuel, Krägeloh‐Mann, Ingeborg, Böhringer, Judith
Format: Artigo
Idioma:Inglês
Publicat: John Wiley & Sons, Inc. 2020
Matèries:
Research Reports
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7932862/
https://ncbi.nlm.nih.gov/pubmed/33728250
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12189
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