Galactosemia Diagnosis by Whole Exome Sequencing Later in Life
Mov Disord Clin Pract
.
2021 Sep 3;8(Suppl 1):S37-S39.
doi: 10.1002/mdc3.13295.
eCollection 2021 Aug.
Authors
Sara Lucas-Del-Pozo
1
2
,
David Moreno-Martinez
3
4
,
Maria Camprodon-Gomez
3
,
Daniel Moreno-Martinez
5
,
Jorge Hernández-Vara
1
6
Affiliations
1
Neurodegenerative Diseases Research Group Vall Hebron Research Institute, Vall Hebron University Hospital Barcelona Spain.
2
Department of Clinical and Movement Neurosciences UCL Queen Square Institute of Neurology London United Kingdom.
3
Rare Diseases and Inborn Errors of Metabolism in Adult Unit Vall Hebron University Hospital Barcelona Spain.
4
Lysosomal Storage Disorders Unit The Royal Free Hospital NHS Foundation Trust and University College London London United Kingdom.
5
Department of Radiology Vall Hebron University Hospital Barcelona Spain.
6
Department of Neurology Vall Hebron University Hospital Barcelona Spain.
PMID:
34514046
PMCID:
PMC8414495
DOI:
10.1002/mdc3.13295
No abstract available
Keywords:
ataxia; galactosemia.
Publication types
Case Reports