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Developmental delay can precede neurologic regression in metachromatic leukodystrophy

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Year: 2023
Type: article
Study design: Case Report
Source: Molecular Genetics and Metabolism
DOI: 10.1016/j.ymgme.2022.106989
Authors: Laura A. Adang, Samuel Groeschel, Chloe Grzyb, Florian S. Eichler, Jamie L. Fraser, Lisa Emrick, Keith Van Haren, Stephanie Keller, Michele Poe, John Bernat, Joshua L. Bonkowsky, Genevieve Bernard, Chloe Stutterd, Paul J. Orchard, Ashish Gupta, Merete Ljungberg, Sabine Grønborg, Francesca Fumagalli, Saskia Elgun, Christiane Kehrer, Justine Shults, Adeline Vanderver, Maria L. Escolar
Institutions: Children's Hospital of Philadelphia, University of Tübingen, University of Pittsburgh, Massachusetts General Hospital, Children's National, Baylor College of Medicine, Stanford University, Children's Healthcare of Atlanta, Children's Hospital of Pittsburgh, University of Iowa Stead Family Children’s Hospital, University of Utah, McGill University, Murdoch Children's Research Institute, University of Minnesota, Copenhagen University Hospital, The San Raffaele Telethon Institute for Gene Therapy, University Children's Hospital Tübingen
Language: English

Topic: Lysosomal Storage Disorders Research
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
SDG: Good health and well-being

Open Access status: closed
OpenAlex ID: W4319459692
FWCI: 0.703
Cites:
Cited by: 4
Related to: 10
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