Mucolipidosis type II and type III: a systematic review of 843 published cases.

Autor: Dogterom EJ; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Wagenmakers MAEM; Department of Internal Medicine, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Wilke M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Demirdas S; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Muschol NM; International Center for Lysosomal Disorders, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Pohl S; Skeletal Pathobiochemistry, Department of Osteology and Biomechanics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Meijden JCV; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Rizopoulos D; Department of Biostatistics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Ploeg ATV; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Oussoren E; Department of Pediatrics, Center for Lysosomal and Metabolic Diseases, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands. e.oussoren@erasmusmc.nl.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Nov; Vol. 23 (11), pp. 2047-2056. Date of Electronic Publication: 2021 Jun 25.