المؤلفون: 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.

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

نوع المنشور: Journal Article

بيانات الدورية: 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

مواضيع طبية MeSH: Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/drug therapy , Congenital Disorders of Glycosylation*/metabolism , Congenital Disorders of Glycosylation*/pathology , Fibroblasts*/metabolism , Fibroblasts*/drug effects , Mannosephosphates*/metabolism , Phosphotransferases (Phosphomutases)*/genetics , Phosphotransferases (Phosphomutases)*/metabolism , Phosphotransferases (Phosphomutases)*/deficiency , Liposomes*, Humans ; Glycosylation/drug effects ; Proteomics ; Mannose/metabolism

المؤلفون: Starosta RT; Division of Medical Genetics and Genomics, Washington University School of Medicine, St. Louis, MO, USA; Division of Clinical Genetics and Metabolism, University of Colorado Anschutz, Aurora, CO, USA; Graduate Program in Science: Gastroenterology and Hepatology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil. Electronic address: RODRIGO.STAROSTA@cuanschutz.edu., Lee AJ; Division of Medical Genetics and Genomics, Washington University School of Medicine, St. Louis, MO, USA., Toolan ER; Division of Medical Genetics and Genomics, Washington University School of Medicine, St. Louis, MO, USA., He M; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wongkittichote P; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand., Daniel EJP; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Radenkovic S; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Budhraja R; Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA., Pandey A; Department of Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA., Sharma J; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Nguyen H; Division of Medical Genetics and Genomics, Washington University School of Medicine, St. Louis, MO, USA., Dickson PI; Division of Medical Genetics and Genomics, Washington University School of Medicine, St. Louis, MO, USA.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108488. Date of Electronic Publication: 2024 May 09.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: 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

مواضيع طبية MeSH: Congenital Disorders of Glycosylation*/drug therapy , Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/pathology , Congenital Disorders of Glycosylation*/metabolism , Mannose*/metabolism , Fibroblasts*/metabolism , Fibroblasts*/drug effects, Humans ; Male ; Fucose/metabolism ; Glycosylation/drug effects ; Phosphotransferases (Alcohol Group Acceptor)/genetics ; Phosphotransferases (Alcohol Group Acceptor)/metabolism ; Female ; Proteomics

المؤلفون: 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.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 Jun; Vol. 142 (2), pp. 108472. Date of Electronic Publication: 2024 Apr 23.

نوع المنشور: Journal Article; Review

بيانات الدورية: 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

مواضيع طبية MeSH: Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/therapy , Congenital Disorders of Glycosylation*/diagnosis , Congenital Disorders of Glycosylation*/complications, Humans ; Glycosylation ; Phenotype ; Mutation ; Muscle Hypotonia/genetics ; Muscle Hypotonia/therapy ; Muscle Hypotonia/diagnosis ; Practice Guidelines as Topic ; Developmental Disabilities/genetics ; Developmental Disabilities/therapy ; Infant ; Intellectual Disability/genetics ; Intellectual Disability/diagnosis ; Seizures/genetics ; Seizures/therapy ; Seizures/diagnosis ; N-Acetylglucosaminyltransferases

المؤلفون: Fazelzadeh Haghighi M; Department of Molecular Medicine, School of Advanced Technologies, Shahrekord University of Medical Sciences, Shahrekord, Iran., Jafari Khamirani H; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran., Fallahi J; Molecular Medicine Department, School of Advanced Medical Sciences and Technologies, Shiraz University of Medical Sciences, Shiraz, Iran., Monfared AA; Central Research Laboratory, Shiraz University of Medical Sciences, Shiraz, Iran., Ashrafi Dehkordi K; Department of Molecular Medicine, School of Advanced Technologies, Shahrekord University of Medical Sciences, Shahrekord, Iran., Tabei SMB; Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.; Maternal-Fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz, Iran.

المصدر: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 May; Vol. 12 (5), pp. e2445.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/pathology , Congenital Disorders of Glycosylation*/metabolism , CRISPR-Cas Systems*, Humans ; Fucose/metabolism ; Glycosylation ; Receptors, Notch/metabolism ; Receptors, Notch/genetics ; Phosphotransferases (Alcohol Group Acceptor)

المؤلفون: Jáñez Pedrayes A; Laboratory of Applied Mass Spectrometry, Department of Cellular and Molecular Medicine, Katholieke Universiteit Leuven, 3000 Leuven, Belgium; Metabolomics Expertise Center, Center for Cancer Biology VIB, 3000 Leuven, Belgium; Department of Development and Regeneration, Katholieke Universiteit Leuven, 3000 Leuven, Belgium. Electronic address: andrea.janezpedrayes@kuleuven.be., Rymen D; Center for Metabolic Diseases, Department of Paediatrics, University Hospitals Leuven, 3000 Leuven, Belgium. Electronic address: daisy.rymen@uzleuven.be., Ghesquière B; Laboratory of Applied Mass Spectrometry, Department of Cellular and Molecular Medicine, Katholieke Universiteit Leuven, 3000 Leuven, Belgium; Metabolomics Expertise Center, Center for Cancer Biology VIB, 3000 Leuven, Belgium. Electronic address: bart.ghesquiere@kuleuven.be., Witters P; Department of Development and Regeneration, Katholieke Universiteit Leuven, 3000 Leuven, Belgium; Center for Metabolic Diseases, Department of Paediatrics, University Hospitals Leuven, 3000 Leuven, Belgium. Electronic address: peter.witters@uzleuven.be.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108434. Date of Electronic Publication: 2024 Mar 05.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/metabolism , Congenital Disorders of Glycosylation*/pathology , Glycosphingolipids*/metabolism, Humans ; Glycosylation ; Animals ; Gangliosides/metabolism ; Gangliosides/deficiency

المؤلفون: Wang B; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, 250022, China., Yang L; Digestive Department, Children's Hospital Affiliated to Shandong University, Jinan, Shandong 250022, China., Gao M; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, 250022, China., Zhang H; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, 250022, China. Electronic address: sunnysea1115@163.com., Liu Y; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, 250022, China. Electronic address: y_liu99@sina.com., Gai Z; Pediatric Research Institute, Children's Hospital Affiliated to Shandong University (Jinan Children's Hospital), Jinan, Shandong 250022, China; Shandong Provincial Clinical Research Center for Children's Health and Disease, Jinan, 250022, China.

المصدر: Stem cell research [Stem Cell Res] 2024 Jun; Vol. 77, pp. 103381. Date of Electronic Publication: 2024 Mar 08.

نوع المنشور: Journal Article; Case Reports

بيانات الدورية: Publisher: Elsevier Country of Publication: England NLM ID: 101316957 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1876-7753 (Electronic) Linking ISSN: 18735061 NLM ISO Abbreviation: Stem Cell Res Subsets: MEDLINE

مواضيع طبية MeSH: Induced Pluripotent Stem Cells*/metabolism , Induced Pluripotent Stem Cells*/pathology , Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/pathology , Mutation* , Heterozygote*, Humans ; Male ; Infant ; Cell Line ; Phosphotransferases (Phosphomutases)/genetics ; Phosphotransferases (Phosphomutases)/deficiency ; Cell Differentiation ; Glycosylation

المؤلفون: Ng BG; Human Genetics Program, Sanford Children's Health Research Center, La Jolla, CA, USA., Freeze HH; Human Genetics Program, Sanford Children's Health Research Center, La Jolla, CA, USA. Electronic address: hudson@sbpdiscovery.org., Himmelreich N; Dietmar-Hopp Metabolic Center and Centre for Pediatrics and Adolescent Medicine, University Children's Hospital, Heidelberg, Germany; Center for Human Genetics Tübingen, Tübingen, Germany., Blau N; Divisions of Metabolism, University Children's Hospital, Zürich, Switzerland. Electronic address: nenad.blau@kispi.uzh.ch., Ferreira CR; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: carlos.ferreira@nih.gov.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108476. Date of Electronic Publication: 2024 Apr 10.

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: 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

مواضيع طبية MeSH: Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/metabolism , Congenital Disorders of Glycosylation*/diagnosis , Congenital Disorders of Glycosylation*/classification , Congenital Disorders of Glycosylation*/pathology, Humans ; Glycosylation

المؤلفون: Fujihira H; Glycometabolic Biochemistry Laboratory, Cluster for Pioneering Research, RIKEN, Saitama, 351-0198, Japan; Division of Glycobiologics, Juntendo University Graduate School of Medicine, Tokyo, 113-8421, Japan., Sato K; Glycometabolic Biochemistry Laboratory, Cluster for Pioneering Research, RIKEN, Saitama, 351-0198, Japan., Nishiuchi Y; GlyTech, Inc., Kyoto, 600-8813, Japan., Murase T; GlyTech, Inc., Kyoto, 600-8813, Japan., Matsuda Y; GlyTech, Inc., Kyoto, 600-8813, Japan., Yoshida Y; Laboratory of Protein Metabolism, Tokyo Metropolitan Institute of Medical Science, Tokyo, 156-8506, Japan., Kamei T; Global Advanced Platform, Takeda Pharmaceutical Co. Ltd., Kanagawa, 251-8555, Japan; NGLY1 Deficiency Project, T-CiRA Joint Program, Kanagawa, 251-8555, Japan., Suzuki T; Glycometabolic Biochemistry Laboratory, Cluster for Pioneering Research, RIKEN, Saitama, 351-0198, Japan; NGLY1 Deficiency Project, T-CiRA Joint Program, Kanagawa, 251-8555, Japan. Electronic address: tsuzuki_gm@riken.jp.

المصدر: Biochemical and biophysical research communications [Biochem Biophys Res Commun] 2024 May 28; Vol. 710, pp. 149826. Date of Electronic Publication: 2024 Mar 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0372516 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1090-2104 (Electronic) Linking ISSN: 0006291X NLM ISO Abbreviation: Biochem Biophys Res Commun Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Disorders of Glycosylation*, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase/*deficiency, Humans ; Cytosol/metabolism ; Glycosylation ; Glycoproteins/metabolism ; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase/genetics

SCR Disease Name: NGLY1 deficiency

المؤلفون: Radenkovic S; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Budhraja R; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA., Klein-Gunnewiek T; Department of Human Genetics, Radboud University Medical Centre, 6525 XZ Nijmegen, the Netherlands., King AT; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA., Bhatia TN; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA., Ligezka AN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA., Driesen K; Metabolomics Expertise Center, VIB-KU Leuven, 3000 Leuven, Belgium., Shah R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA., Ghesquière B; Metabolomics Expertise Center, VIB-KU Leuven, 3000 Leuven, Belgium; Laboratory of Applied Mass Spectrometry, KU Leuven, 3000 Leuven, Belgium., Pandey A; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Manipal Academy of Higher Education (MAHE), Manipal, Karnataka 576104, India., Kasri NN; Department of Human Genetics, Radboud University Medical Centre, 6525 XZ Nijmegen, the Netherlands., Sloan SA; Department of Human Genetics, Emory University, Atlanta, GA 30322, USA., Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Biophysics, University of Pécs Medical School, 7624 Pécs, Hungary; Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY 10029, USA., Kozicz T; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN 55905, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN 55905, USA; Department of Anatomy, University of Pécs Medical School, 7624 Pécs, Hungary; Department of Genetics and Genomics Sciences, Icahn School of Medicine at Mount Sinai, New York City, NY 10029, USA. Electronic address: tamas.kozicz@mssm.edu.

المصدر: Cell reports [Cell Rep] 2024 Mar 26; Vol. 43 (3), pp. 113883. Date of Electronic Publication: 2024 Mar 01.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/metabolism, Phosphotransferases (Phosphomutases)/*deficiency, Humans ; Glycosylation

SCR Disease Name: Congenital disorder of glycosylation type 1A

المؤلفون: Pascoal C; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; UCIBIO- Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal., Francisco R; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; UCIBIO- Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal., Mexia P; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; UCIBIO- Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal., Pereira BL; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; UCIBIO- Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal., Granjo P; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; UCIBIO- Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal., Coelho H; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; UCIBIO - Applied Molecular Biosciences Unit, Department of Chemistry, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal., Barbosa M; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; UCIBIO- Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal., Dos Reis Ferreira V; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; UCIBIO- Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal., Videira PA; Associate Laboratory i4HB - Institute for Health and Bioeconomy, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; UCIBIO- Applied Molecular Biosciences Unit, Department of Life Sciences, NOVA School of Science and Technology, Universidade NOVA de Lisboa, Caparica, Portugal.; CDG & Allies-Professionals and Patient Associations International Network, Caparica, Portugal.

المصدر: Frontiers in immunology [Front Immunol] 2024 Mar 14; Vol. 15, pp. 1350101. Date of Electronic Publication: 2024 Mar 14 (Print Publication: 2024).

نوع المنشور: Journal Article; Review; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/drug therapy , Congenital Disorders of Glycosylation*/pathology, Humans ; Child ; Glycosylation ; Quality of Life ; Genotype ; Protein Processing, Post-Translational