المؤلفون: Méndez-Yáñez A; Multidisciplinary Agroindustry Research Laboratory, Instituto de Ciencias Biomédicas, Facultad de Ciencias de la Salud, Universidad Autónoma de Chile, Cinco Poniente #1670, Talca 3467987, Chile., Sáez D; Multidisciplinary Agroindustry Research Laboratory, Instituto de Ciencias Biomédicas, Facultad de Ciencias de la Salud, Universidad Autónoma de Chile, Cinco Poniente #1670, Talca 3467987, Chile.; Programa de Doctorado en Ciencias Biomédicas, Instituto de Ciencias Biomédicas, Facultad de Ciencias de la Salud, Universidad Autónoma de Chile, Cinco Poniente #1670, Talca 3467987, Chile., Rodríguez-Arriaza F; Multidisciplinary Agroindustry Research Laboratory, Instituto de Ciencias Biomédicas, Facultad de Ciencias de la Salud, Universidad Autónoma de Chile, Cinco Poniente #1670, Talca 3467987, Chile., Letelier-Naritelli C; Multidisciplinary Agroindustry Research Laboratory, Instituto de Ciencias Biomédicas, Facultad de Ciencias de la Salud, Universidad Autónoma de Chile, Cinco Poniente #1670, Talca 3467987, Chile., Valenzuela-Riffo F; Instituto de Ciencias Biológicas, Universidad de Talca, Campus Talca, Avenida Lircay s/n, Talca 3460000, Chile., Morales-Quintana L; Multidisciplinary Agroindustry Research Laboratory, Instituto de Ciencias Biomédicas, Facultad de Ciencias de la Salud, Universidad Autónoma de Chile, Cinco Poniente #1670, Talca 3467987, Chile.

المصدر: International journal of molecular sciences [Int J Mol Sci] 2024 Jun 14; Vol. 25 (12). Date of Electronic Publication: 2024 Jun 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

مواضيع طبية MeSH: Fragaria*/genetics , Fragaria*/enzymology , Fragaria*/growth & development , Fragaria*/metabolism , Fruit*/growth & development , Fruit*/genetics , Fruit*/enzymology , Fruit*/metabolism , Gene Expression Regulation, Plant* , Phylogeny* , alpha-Mannosidase*/metabolism , alpha-Mannosidase*/genetics , Plant Proteins*/metabolism , Plant Proteins*/genetics, Cell Wall/metabolism

المؤلفون: Santoro L; Department of Clinical Sciences, Division of Pediatrics, Polytechnic University of Marche, Ospedali Riuniti, Presidio Salesi, Ancona, Italy. Electronic address: dott.luciasantoro@gmail.com., Cefalo G; Clinical Department of Pediatrics, ASST Santi Paolo e Carlo, San Paolo Hospital, University of Milan, Milan, Italy. Electronic address: graziella.cefalo@asst-santipaolocarlo.it., Canalini F; Chiesi Italia SPA, Parma, Italy. Electronic address: f.canalini@chiesi.com., Rossi S; Chiesi Italia SPA, Parma, Italy. Electronic address: silvia.rossi14576@gmail.com., Scarpa M; Regional Coordinating Center for Rare Diseases, Udine University Hospital, P.le S. Maria della Misericordia 15, Udine 33100, Italy. Electronic address: maurizio.scarpa@asufc.sanita.fvg.it.

المصدر: Molecular genetics and metabolism [Mol Genet Metab] 2024 May; Vol. 142 (1), pp. 108444. Date of Electronic Publication: 2024 Mar 14.

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: alpha-Mannosidosis*/diagnosis , alpha-Mannosidosis*/genetics , Enzyme Replacement Therapy* , alpha-Mannosidase*/genetics , Delayed Diagnosis*, Humans ; Rare Diseases/diagnosis ; Rare Diseases/genetics

المؤلفون: Kirby T

المصدر: The Lancet. Infectious diseases [Lancet Infect Dis] 2024 Jan; Vol. 24 (1), pp. 22.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 101130150 Publication Model: Print Cited Medium: Internet ISSN: 1474-4457 (Electronic) Linking ISSN: 14733099 NLM ISO Abbreviation: Lancet Infect Dis Subsets: MEDLINE

مواضيع طبية MeSH: alpha-Mannosidase*, Humans ; Papua New Guinea/epidemiology

المؤلفون: Uguen K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Rouault K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Pensec M; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France., Benech C; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Schutz S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Zanlonghi X; Centre de compétence maladie rare, Service d'Ophtalmologie, CHU Rennes, Rennes, France., Nadjar Y; Département de Neurologie, Centre de Référence des Maladies Lysosomales, Hôpital Pitié-Salpêtrière, AP-HP.Sorbonne Université, Paris, France., Le Maréchal C; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Férec C; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Audebert-Bellanger S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 May; Vol. 194 (5), pp. e63532. Date of Electronic Publication: 2024 Jan 08.

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: alpha-Mannosidosis*/diagnosis , alpha-Mannosidosis*/genetics, Humans ; DNA Copy Number Variations/genetics ; alpha-Mannosidase/genetics ; Mutation, Missense/genetics ; Phenotype

المؤلفون: Liu FF; Glycomics and Glycan Bioengineering Research Center (GGBRC), College of Food Science and Technology, Nanjing Agricultural University, Nanjing, People's Republic of China., Wang M; Glycomics and Glycan Bioengineering Research Center (GGBRC), College of Food Science and Technology, Nanjing Agricultural University, Nanjing, People's Republic of China., Ma GH; Glycomics and Glycan Bioengineering Research Center (GGBRC), College of Food Science and Technology, Nanjing Agricultural University, Nanjing, People's Republic of China., Kulinich A; Glycomics and Glycan Bioengineering Research Center (GGBRC), College of Food Science and Technology, Nanjing Agricultural University, Nanjing, People's Republic of China., Liu L; Glycomics and Glycan Bioengineering Research Center (GGBRC), College of Food Science and Technology, Nanjing Agricultural University, Nanjing, People's Republic of China. Electronic address: lichen.liu@njau.edu.cn., Voglmeir J; Glycomics and Glycan Bioengineering Research Center (GGBRC), College of Food Science and Technology, Nanjing Agricultural University, Nanjing, People's Republic of China. Electronic address: josef.voglmeir@njau.edu.cn.

المصدر: Carbohydrate research [Carbohydr Res] 2024 Apr; Vol. 538, pp. 109100. Date of Electronic Publication: 2024 Mar 28.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 0043535 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-426X (Electronic) Linking ISSN: 00086215 NLM ISO Abbreviation: Carbohydr Res Subsets: MEDLINE

مواضيع طبية MeSH: Mannose*/chemistry , Polysaccharides*/chemistry , Bacteroidetes*, alpha-Mannosidase/chemistry ; alpha-Mannosidase/metabolism ; Ions ; Mannosidases/metabolism

SCR Organism: Solitalea canadensis

المؤلفون: Liang Y; Laboratoire d'Innovation Moléculaire et Applications (LIMA), University of Strasbourg|University of Haute-Alsace|CNRS (UMR 7042), Equipe de Synthèse Organique et Molécules Bioactives (SYBIO), ECPM, 25 Rue Becquerel, 67087, Strasbourg, France)., Schettini R; Dipartimento di Chimica e Biologia 'A. Zambelli', Università degli Studi di, Salerno, 84084, Fisciano (Salerno), Italy., Kern N; Laboratoire d'Innovation Moléculaire et Applications (LIMA), University of Strasbourg|University of Haute-Alsace|CNRS (UMR 7042), Equipe de Synthèse Organique et Molécules Bioactives (SYBIO), ECPM, 25 Rue Becquerel, 67087, Strasbourg, France)., Manciocchi L; Laboratoire d'Innovation Moléculaire et Applications (LIMA), University of Strasbourg|University of Haute-Alsace|CNRS (UMR 7042)-IRJBD, 3 bis rue Alfred Werner, 68057, Mulhouse Cedex, France., Izzo I; Dipartimento di Chimica e Biologia 'A. Zambelli', Università degli Studi di, Salerno, 84084, Fisciano (Salerno), Italy., Spichty M; Laboratoire d'Innovation Moléculaire et Applications (LIMA), University of Strasbourg|University of Haute-Alsace|CNRS (UMR 7042)-IRJBD, 3 bis rue Alfred Werner, 68057, Mulhouse Cedex, France., Bodlenner A; Laboratoire d'Innovation Moléculaire et Applications (LIMA), University of Strasbourg|University of Haute-Alsace|CNRS (UMR 7042), Equipe de Synthèse Organique et Molécules Bioactives (SYBIO), ECPM, 25 Rue Becquerel, 67087, Strasbourg, France)., Compain P; Laboratoire d'Innovation Moléculaire et Applications (LIMA), University of Strasbourg|University of Haute-Alsace|CNRS (UMR 7042), Equipe de Synthèse Organique et Molécules Bioactives (SYBIO), ECPM, 25 Rue Becquerel, 67087, Strasbourg, France).

المصدر: Chemistry (Weinheim an der Bergstrasse, Germany) [Chemistry] 2024 Apr 02; Vol. 30 (19), pp. e202304126. Date of Electronic Publication: 2024 Feb 13.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-VCH Country of Publication: Germany NLM ID: 9513783 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1521-3765 (Electronic) Linking ISSN: 09476539 NLM ISO Abbreviation: Chemistry Subsets: MEDLINE

مواضيع طبية MeSH: Glycoside Hydrolases*/metabolism , Imino Sugars*/chemistry, Humans ; alpha-Mannosidase ; Structure-Activity Relationship

المؤلفون: Drogalin A; Chemistry Centre, School of Sciences, University of Minho, Braga, Portugal., Monteiro LS; Chemistry Centre, School of Sciences, University of Minho, Braga, Portugal., Alves MJ; Chemistry Centre, School of Sciences, University of Minho, Braga, Portugal., Castro TG; CEB - Centre of Biological Engineering, University of Minho, Braga, Portugal.; LABBELS -Associate Laboratory, Braga/Guimarães, Portugal.

المصدر: Journal of biomolecular structure & dynamics [J Biomol Struct Dyn] 2024 Mar; Vol. 42 (5), pp. 2714-2725. Date of Electronic Publication: 2023 May 09.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: England NLM ID: 8404176 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-0254 (Electronic) Linking ISSN: 07391102 NLM ISO Abbreviation: J Biomol Struct Dyn Subsets: MEDLINE

مواضيع طبية MeSH: Drosophila melanogaster*/metabolism , Molecular Dynamics Simulation*, Animals ; Humans ; alpha-Mannosidase/chemistry ; Mannosidases/chemistry ; Mannosidases/metabolism ; Golgi Apparatus/metabolism ; Mammals/metabolism

المؤلفون: Zhang Z; Department of Endocrinology, Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai 200437, China., Fu X; Department of Integrated Traditional Chinese and Western Medicine, Huashan Hospital, Fudan University, Shanghai 200040, China., Zhou F; Department of Endocrinology, Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai 200437, China., Zhang D; Department of Endocrinology, Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai 200437, China., Xu Y; Department of Endocrinology, Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai 200437, China., Fan Z; Department of Endocrinology, Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai 200437, China., Wen S; Department of Endocrinology, Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai 200437, China., Shao Y; Department of Endocrinology, Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai 200437, China., Yao Z; Department of Endocrinology, Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai 200437, China., He Y; Department of Endocrinology, Yueyang Hospital of Integrated Traditional Chinese and Western Medicine, Shanghai University of Traditional Chinese Medicine, Shanghai 200437, China.

المصدر: Journal of diabetes research [J Diabetes Res] 2024 Jan 20; Vol. 2024, pp. 6942156. Date of Electronic Publication: 2024 Jan 20 (Print Publication: 2024).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Hindawi Limited Country of Publication: England NLM ID: 101605237 Publication Model: eCollection Cited Medium: Internet ISSN: 2314-6753 (Electronic) NLM ISO Abbreviation: J Diabetes Res Subsets: MEDLINE

مواضيع طبية MeSH: Diabetic Nephropathies*/drug therapy , Diabetic Nephropathies*/genetics , Diabetic Nephropathies*/metabolism , Diabetes Mellitus, Experimental*/complications , Diabetes Mellitus, Experimental*/drug therapy , Diabetes Mellitus, Experimental*/metabolism , MicroRNAs*/genetics , MicroRNAs*/therapeutic use , Hypertension*/drug therapy , Drugs, Chinese Herbal*, Mice ; Humans ; Animals ; Disease Models, Animal ; Mesangial Cells/metabolism ; Fibrosis ; RNA-Binding Proteins ; Calcium-Binding Proteins ; alpha-Mannosidase/metabolism ; alpha-Mannosidase/therapeutic use

المؤلفون: She YM; Centre for Biologics Evaluation, Biologic and Radiopharmaceutical Drugs Directorate, Health Canada, Ottawa, Ontario, Canada., Klupt K; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, Ontario, Canada., Hatfield G; Centre for Biologics Evaluation, Biologic and Radiopharmaceutical Drugs Directorate, Health Canada, Ottawa, Ontario, Canada., Jia Z; Department of Biomedical and Molecular Sciences, Queen's University, Kingston, Ontario, Canada., Tam RY; Centre for Biologics Evaluation, Biologic and Radiopharmaceutical Drugs Directorate, Health Canada, Ottawa, Ontario, Canada. Electronic address: roger.tam@hc-sc.gc.ca.

المصدر: The Journal of biological chemistry [J Biol Chem] 2022 Sep; Vol. 298 (9), pp. 102313. Date of Electronic Publication: 2022 Jul 31.

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

بيانات الدورية: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 2985121R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1083-351X (Electronic) Linking ISSN: 00219258 NLM ISO Abbreviation: J Biol Chem Subsets: MEDLINE

مواضيع طبية MeSH: Polysaccharides*/metabolism , Xanthomonas*/enzymology , alpha-Mannosidase*/metabolism , beta-Galactosidase*/metabolism, Galactose/metabolism ; Glycoproteins/metabolism ; Glycoside Hydrolases/metabolism ; Mannose ; Mannosides/metabolism ; Oligosaccharides/metabolism

المؤلفون: Maia N; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, 4050-466 Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine and Laboratory for Integrative and Translational Research in Population Health, Institute of Biomedical Sciences Abel Salazar, University of Porto, 4050-313 Porto, Portugal., Potelle S; Laboratory of Physiological Chemistry, de Duve Institute, 1200 Brussels, Belgium; WELBIO, 1200 Brussels, Belgium., Yildirim H; Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, 1090 Brussels, Belgium., Duvet S; Univ. Lille, CNRS, UMR 8576-UGSF-Unit. de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France., Akula SK; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA., Schulz C; Univ. Lille, CNRS, UMR 8576-UGSF-Unit. de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France., Wiame E; Laboratory of Physiological Chemistry, de Duve Institute, 1200 Brussels, Belgium; WELBIO, 1200 Brussels, Belgium., Gheldof A; Centre for Medical Genetics, UZ Brussel, 1090 Brussels, Belgium; Reproduction and Genetics Research Group, Vrije Universiteit Brussel, 1090 Brussels, Belgium., O'Kane K; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA., Lai A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA., Sermon K; Reproduction and Genetics Research Group, Vrije Universiteit Brussel, 1090 Brussels, Belgium., Proisy M; CHU Brest, Radiology Department, Brest University, 29609 Brest Cedex, France., Loget P; Department of Pathology, Rennes University Hospital, 35000 Rennes, France., Attié-Bitach T; APHP, Embryofœtopathologie, Service d'Histologie-Embryologie-Cytogénétique, Hôpital Universitaire Necker-Enfants Malades, 75015 Paris, France; Université de Paris, Imagine Institute, INSERM UMR 1163, 75015 Paris, France., Quelin C; Clinical Genetics Department, Rennes University Hospital, 35000 Rennes, France., Fortuna AM; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, 4050-466 Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine and Laboratory for Integrative and Translational Research in Population Health, Institute of Biomedical Sciences Abel Salazar, University of Porto, 4050-313 Porto, Portugal., Soares AR; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, 4050-466 Porto, Portugal., de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, 6500 Nijmegen, the Netherlands., Van Schaftingen E; Laboratory of Physiological Chemistry, de Duve Institute, 1200 Brussels, Belgium; WELBIO, 1200 Brussels, Belgium., Nassogne MC; Department of Pediatric Neurology, Cliniques Universitaires Saint-Luc, UCLouvain, 1200 Brussels, Belgium; Institute Of NeuroScience, Clinical Neuroscience, UCLouvain, 1200 Brussels, Belgium., Walsh CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Howard Hughes Medical Institute, Boston, MA 02115, USA; Broad Institute of MIT and Harvard, Boston, MA 02115, USA; Manton Center for Orphan Disease Research, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA., Stouffs K; Centre for Medical Genetics, UZ Brussel, 1090 Brussels, Belgium; Reproduction and Genetics Research Group, Vrije Universiteit Brussel, 1090 Brussels, Belgium., Jorge P; Centro de Genética Médica Doutor Jacinto Magalhães, Centro Hospitalar Universitário do Porto, 4050-466 Porto, Portugal; Unit for Multidisciplinary Research in Biomedicine and Laboratory for Integrative and Translational Research in Population Health, Institute of Biomedical Sciences Abel Salazar, University of Porto, 4050-313 Porto, Portugal., Jansen AC; Neurogenetics Research Group, Reproduction Genetics and Regenerative Medicine Research Cluster, Vrije Universiteit Brussel, 1090 Brussels, Belgium; Pediatric Neurology Unit, Department of Pediatrics, UZ Brussel, 1090 Brussels, Belgium. Electronic address: anna.jansen@vub.be., Foulquier F; Univ. Lille, CNRS, UMR 8576-UGSF-Unit. de Glycobiologie Structurale et Fonctionnelle, 59000 Lille, France. Electronic address: francois.foulquier@univ-lille.fr.

المصدر: American journal of human genetics [Am J Hum Genet] 2022 Feb 03; Vol. 109 (2), pp. 345-360. Date of Electronic Publication: 2022 Jan 18.

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

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Central Nervous System Cysts/*genetics , Congenital Disorders of Glycosylation/*genetics , Hamartoma/*genetics , Intellectual Disability/*genetics , Oligosaccharides/*metabolism , Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase/*deficiency , Polymicrogyria/*genetics , alpha-Mannosidase/*genetics, Adolescent ; Alleles ; Brain Stem/metabolism ; Brain Stem/pathology ; Cell Line, Tumor ; Central Nervous System Cysts/metabolism ; Central Nervous System Cysts/pathology ; Cerebellar Vermis/metabolism ; Cerebellar Vermis/pathology ; Child ; Child, Preschool ; Congenital Disorders of Glycosylation/metabolism ; Congenital Disorders of Glycosylation/pathology ; Female ; Fetus ; Glycosylation ; Hamartoma/metabolism ; Hamartoma/pathology ; Humans ; Hypothalamus/metabolism ; Hypothalamus/pathology ; Intellectual Disability/metabolism ; Intellectual Disability/pathology ; Leukocytes/metabolism ; Leukocytes/pathology ; Male ; Mannose/metabolism ; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase/genetics ; Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase/metabolism ; Polymicrogyria/metabolism ; Polymicrogyria/pathology ; Tongue/metabolism ; Tongue/pathology ; alpha-Mannosidase/deficiency

SCR Disease Name: NGLY1 deficiency