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Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.
Muthusamy, Karthik; Perez-Ortiz, Judit M; Ligezka, Anna N; Altassan, Ruqaiah; Johnsen, Christin; Schultz, Matthew J; Patterson, Marc C; Morava, Eva.
Affiliation
  • Muthusamy K; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL. Electronic address: muthusamy.karthik@mayo.edu.
  • Perez-Ortiz JM; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN; Department of Neurology, Mayo Clinic, Rochester, MN.
  • Ligezka AN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
  • Altassan R; Department of Medical Genomics, Centre for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
  • Johnsen C; Department of Clinical Genomics, Mayo Clinic, Rochester, MN; Department of Pediatrics and Adolescent Medicine, University Medical Centre, Göttingen, Germany.
  • Schultz MJ; Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.
  • Patterson MC; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN; Department of Neurology, Mayo Clinic, Rochester, MN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN.
  • Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN; Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN; Department of Medical Genetics, University Medical School, Pecs, Hungary.
Genet Med ; 26(2): 101027, 2024 Feb.
Article in En | MEDLINE | ID: mdl-37955240
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia / Phosphotransferases (Phosphomutases) / Congenital Disorders of Glycosylation / Stroke Limits: Adult / Child, preschool / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2024 Type: Article
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Cerebellar Ataxia / Phosphotransferases (Phosphomutases) / Congenital Disorders of Glycosylation / Stroke Limits: Adult / Child, preschool / Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2024 Type: Article