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BBA - Molecular Basis of Disease, ISSN 0925-4439, 2009, Volume 1792, Issue 9, pp. 827 - 834
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 9/2017, Volume 40, Issue 5, pp. 753 - 754
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10545-017-0056-0 (6)... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Medicine, Experimental | Medical research | Medical colleges | Children | Analysis | Diseases | Atrophy | Cerebellum | Phosphomannomutase
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2012, Volume 107, Issue 3, pp. 611 - 613
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2016, Volume 11, Issue 7, p. e0158863
Background PMM2-CDG is the most common N-glycosylation defect and shows an increased risk of recurrent and/or severe, sometimes fatal, infections in early... 
MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY | NK-CELLS | CONGENITAL DISORDERS | DEGRANULATION | ICAM-1 | GLYCOSYLATION | IDENTIFICATION | EXPRESSION | BINDING | LYMPHOCYTES | Cytotoxicity Tests, Immunologic | Lymphocyte Activation | Humans | Receptors, Natural Killer Cell - metabolism | Child, Preschool | Infant | Male | Congenital Disorders of Glycosylation - metabolism | Case-Control Studies | Killer Cells, Natural - physiology | Young Adult | Intercellular Adhesion Molecule-1 - metabolism | Flow Cytometry | NK Cell Lectin-Like Receptor Subfamily K - metabolism | Phosphotransferases (Phosphomutases) - metabolism | Congenital Disorders of Glycosylation - immunology | Adolescent | Adult | Female | Natural Cytotoxicity Triggering Receptor 1 - metabolism | Phosphotransferases (Phosphomutases) - immunology | Killer Cells, Natural - metabolism | Child | Phosphotransferases (Phosphomutases) - deficiency | Killer cells | Glycosylation | Genetic disorders | Research | Health aspects | Cytolytic activity | Flow cytometry | Regulators | Toxicity | Cytotoxicity | Lymphocytes T | Infections | Immunity | Blood | Cell adhesion molecules | Cell adhesion & migration | NKG2 antigen | Receptors | Cell activation | Microorganisms | Immunology | Lymphocytes | Peripheral blood | Natural killer cells | Immune system | Killing | Antiviral agents | Antigens | Phenotypes | Immune response | Blood cells | Neutrophils | T cell receptors | Adaptive immunity | Patients | Phosphomannomutase | Adhesion | Cytometry | Cell number | Ligands | Viral infections
Journal Article
PloS one, ISSN 1932-6203, 2016, Volume 11, Issue 10, p. e0165901
[This corrects the article DOI: 10.1371/journal.pone.0158863.]. 
Cytotoxicity | Receptors | T cell receptors | Natural killer cells | Phosphomannomutase
Journal Article
International Journal of Molecular Sciences, ISSN 1661-6596, 02/2018, Volume 19, Issue 2, p. 619
Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic... 
Cerebellum | Ataxia | Congenital disorders of glycosylation | CaV2.1 voltage-gated calcium channel | Magentic resonance Imaging (MRI) | Stroke-like | DELAYED CEREBRAL EDEMA | 1 voltage-gated calcium channel | BIOCHEMISTRY & MOLECULAR BIOLOGY | SURFACE EXPRESSION | ENHANCED EXCITATORY TRANSMISSION | Ca(V)2 | CONGENITAL DISORDER | stroke-like | MINOR HEAD TRAUMA | CHEMISTRY, MULTIDISCIPLINARY | cerebellum | congenital disorders of glycosylation | ataxia | magentic resonance Imaging (MRI) | GLYCOSYLATION TYPE IA | CACNA1A GENE MUTATION | ALPHADELTA SUBUNIT | FAMILIAL HEMIPLEGIC MIGRAINE | CALCIUM-CHANNEL | Amino Acid Sequence | Stroke - diagnostic imaging | Channelopathies - complications | Humans | Child, Preschool | Stroke - complications | Male | Electroencephalography | Glycosylation | Mutation - genetics | Magnetic Resonance Imaging | Cerebellar Diseases - complications | Channelopathies - diagnostic imaging | Cerebellar Diseases - diagnostic imaging | Phosphotransferases (Phosphomutases) - metabolism | Tunicamycin - pharmacology | Adolescent | HEK293 Cells | Phosphotransferases (Phosphomutases) - chemistry | Female | Calcium Channels - genetics | Child | Phosphotransferases (Phosphomutases) - deficiency | Ion Channel Gating - drug effects | Headache | Stroke | Deactivation | Channelopathy | Channel gating | Migraine | Calcium channels (voltage-gated) | Risk analysis | Patients | Phosphomannomutase | Risk factors | Mutagenesis | Stroke-like episodes | Mutation | Gating | Index Medicus
Journal Article
G3: Genes, Genomes, Genetics, ISSN 2160-1836, 02/2019, Volume 9, Issue 2, pp. 413 - 423
Phosphomannomutase 2 Deficiency (PMM2-CDG) is the most common monogenic congenital disorder of glycosylation (CDG) affecting at least 800 patients globally.... 
2 Deficiency | Human disease | PMM2-CDG | Congenital | Disorders of | Glycosylation | Yeast models of | Phosphomannomutase | Drug screens | Phosphomannomutase 2 Deficiency | PMM2 | DEFECT | drug screens | HUMAN CDNA | IDENTIFICATION | congenital disorders of glycosylation | GENE | CLONING | N-LINKED GLYCOSYLATION | GENETICS & HEREDITY | MUTATIONS | yeast models of human disease | PROTEIN GLYCOSYLATION | EXPRESSION
Journal Article
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2005, Volume 28, Issue 5, pp. 707 - 714
Journal Article
Glycobiology, ISSN 0959-6658, 12/1997, Volume 7, Issue 8, pp. 1077 - 1084
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 10/2014, Volume 453, Issue 2, pp. 220 - 228
Journal Article