ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.

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Title: ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
Authors: Shah R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Eklund EA; Department of Clinical Sciences, Lund, Pediatrics, Lund University, Lund, Sweden; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK., Radenkovic S; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Sadek M; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Shammas I; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Verberkmoes S; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Ng BG; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA., Freeze HH; Human Genetics Program, Sanford Children's Health Research Center, Sanford Burnham Prebys Medical Discovery Institute, La Jolla, CA 92037, USA., Edmondson AC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA., He M; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kozicz T; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA; University of Pécs, Medical School, Pécs, Hungary., Altassan R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Medical Genomics, Centre for Genomics Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address: raltassan@kfshrc.edu.sa., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA; University of Pécs, Medical School, Pécs, Hungary. Electronic address: Morava-Kozicz.Eva@mayo.edu.
Source: Molecular genetics and metabolism [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108472. Date of Electronic Publication: 2024 Apr 23.
Publication Type: Journal Article; Review
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1096-7206
DOI:10.1016/j.ymgme.2024.108472