Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.

Autor: Granjo P; UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal., Pascoal C; UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal.; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal., Gallego D; Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular-SO UAM-CSIC, Universidad Autónoma de Madrid, Campus de Cantoblanco, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Investigación Sanitaria IdiPaZ, Madrid, Spain., Francisco R; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal.; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal., Jaeken J; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal.; Center for Metabolic Diseases, Department of Pediatrics, KU Leuven, Leuven, 3000, Belgium., Moors T; Glycomine, Inc, 733 Industrial Road, San Carlos, CA, 94070, USA., Edmondson AC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kantautas KA; Perlara PBC, Berkeley, CA, 94705, USA., Serrano M; Neurology Department, Hospital Sant Joan de Déu, U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain., Videira PA; UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. p.videira@fct.unl.pt.; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. p.videira@fct.unl.pt.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal. p.videira@fct.unl.pt.; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal. p.videira@fct.unl.pt., Dos Reis Ferreira V; UCIBIO - Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. sindromecdg@gmail.com.; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal. sindromecdg@gmail.com.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal. sindromecdg@gmail.com.; Portuguese Association for Congenital Disorders of Glycosylation (CDG), Lisbon, Portugal. sindromecdg@gmail.com.

Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Nov 01; Vol. 19 (1), pp. 407. Date of Electronic Publication: 2024 Nov 01.

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.

Autor: Lam C; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA. Electronic address: ctlam2@uw.edu., Scaglia F; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Joint BCM-CUHK Center of Medical Genetics, Prince of Wales Hospital, Hong KongSAR, China., Berry GT; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Larson A; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, USA., Sarafoglou K; Divisions of Endocrinology and Genetics-Metabolism, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA; Department of Experimental and Clinical Pharmacology, University of Minnesota College of Pharmacy, Minneapolis, MN, USA., Andersson HC; Hayward Genetics Center, Dept Pediatrics Tulane School of Medicine, USA., Sklirou E; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Tan QKG; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Starosta RT; Section of Genetics, Department of Pediatrics, University of Colorado School of Medicine, USA., Sadek M; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Wolfe L; Medical Genetic Branch, National Human Genome Research Institute, Bethesda, MD, USA., Horikoshi S; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Ali M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Barone R; Child Neuropsychiatry Unit, Department of Clinical and Experimental Medicine, University of Catania, Catania, Italy; Research Unit of Rare Diseases and Neurodevelopmental Disorders, Oasi Research Institute, IRCCS, Troina, Italy., Campbell T; Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, Seattle, WA, USA., Chang IJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA; Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA., Coles K; Child Health Research Enterprise, Children's Hospital Colorado, USA., Cook E; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA., Eklund EA; Department of Clinical Sciences, Lund University, Lund, Sweden; Department of Pediatrics, Skåne University Hospital, Lund, Sweden., Engelhardt NM; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA., Freeman M; Division of Medical Genetics and Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, USA., Friedman J; Division of Neurosciences and Pediatrics, University of California San Diego and Rady Children's Hospital, San Diego, CA, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA; Rady Children's Hospital, San Diego, CA, USA., Fu DYT; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Botzo G; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Rawls B; Texas Children's Hospital, Houston, TX, USA., Hernandez C; Child Health Research Enterprise, Children's Hospital Colorado, USA., Johnsen C; Department of Pediatrics and Adolescent Medicine, University Medical Centre, Göttingen, Germany., Keller K; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA., Kramer S; Pediatric Clinical Research Services, University of Minnesota, Minneapolis, MN, USA., Kuschel B; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Leshinski A; Division of Genetic and Genomic Medicine, Department of Pediatrics, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Martinez-Duncker I; Laboratorio de Glicobiología Humana y Diagnóstico Molecular, Centro de Investigación en Dinámica Celular, Instituto de Investigación en Ciencias Básicas y Aplicadas, Universidad Autónoma del Estado de Morelos, Cuernavaca, Mexico., Mazza GL; Division of Clinical Trials and Biostatistics, Department of Quantitative Health Sciences, Mayo Clinic, Scottsdale, AZ, USA., Mercimek-Andrews S; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada., Miller BS; Division of Endocrinology, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN, USA., Muthusamy K; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA., Neira J; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA., Patterson MC; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Pogorelc N; Pediatric Clinical Research Services, University of Minnesota, Minneapolis, MN, USA., Powers LN; Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, Seattle, WA, USA., Ramey E; Pediatric Clinical Research Services, University of Minnesota, Minneapolis, MN, USA., Reinhart M; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA., Squire A; Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, Seattle, WA, USA., Thies J; Division of Genetic Medicine, Department of Pediatrics, Seattle Children's Hospital, Seattle, WA, USA., Vockley J; Department of Pediatrics, School of Medicine, University of Pittsburgh, Pittsburgh, PA, United States; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, United States; Center for Rare Disease Therapy, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, United States., Vreugdenhil H; Norcliffe Foundation Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Witters P; Department of Development and Regeneration, Katholieke Universiteit Leuven, 3000 Leuven, Belgium; Center for Metabolic Diseases, Department of Paediatrics, University Hospitals Leuven, Leuven, Belgium., Youbi M; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA., Zeighami A; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA., Zemet R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Edmondson AC; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA, USA., Morava E; Division of Medical Genetics and Genomics, Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, USA.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Aug; Vol. 142 (4), pp. 108509. Date of Electronic Publication: 2024 Jun 06.

Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation.

Autor: Interdonato L; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany; University of Messina, Department of Chemical, Biological, Pharmaceutical and Environmental Science, Messina, Italy., Himmelreich N; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany., Garbade SF; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany., Wen D; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany., Morath M; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany., Di Paola R; University of Messina, Department of Veterinary Science, Messina, Italy., Calabrese V; Department of Biomedical and Biotechnological Sciences, University of Catania, Italy., Thiel C; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany., Peters V; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany. Electronic address: verena.peters@med.uni-heidelberg.de.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Sep-Oct; Vol. 143 (1-2), pp. 108571. Date of Electronic Publication: 2024 Aug 30.

Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation.

Autor: Budhraja R; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., Radenkovic S; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Jain A; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., Muffels IJJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Ismaili MHA; Glycomine, Inc., San Carlos, CA 94070, USA., Kozicz T; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Anatomy, University of Pécs Medical School, 7624 Pécs, Hungary., Pandey A; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Manipal Academy of Higher Education, Manipal, 576104, Karnataka, India. Electronic address: pandey.akhilesh@mayo.edu., Morava E; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905, USA; Department of Biophysics, University of Pécs Medical School, 7624 Pécs, Hungary. Electronic address: eva.morava@mssm.edu.

Publikováno v: Molecular genetics and metabolism [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108487. Date of Electronic Publication: 2024 May 07.

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2.

Autor: Fan S; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China., Wu H; Department of Neurology, The Affiliated Hospital of Capital Institute of Pediatrics, Beijing, China., Wang R; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China., Chen Q; Department of Neurology, The Affiliated Hospital of Capital Institute of Pediatrics, Beijing, China., Zhang X; McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine Peking Union Medical College, Beijing, China.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Apr; Vol. 12 (4), pp. e2422.