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1. Full Text Congenital disorders of glycosylation
by Jaeken, Jaak
Annals of the New York Academy of Sciences, ISSN 0077-8923, 12/2010, Volume 1214, Issue 1, pp. 190 - 198
Congenital (genetic) disorders of glycosylation (CDG) are a rapidly growing disease family, with some 45 members reported since its first clinical description... 
apo–CIII isoelectrofocusing | O‐glycosylation | lipid glycosylation | N‐glycosylation | transferrin isoelectrofocusing | Transferrin isoelectrofocusing | Lipid glycosylation | O-glycosylation | Apo-CIII isoelectrofocusing | N-glycosylation | apo-CIII isoelectrofocusing | MULTIDISCIPLINARY SCIENCES | DEFECT | SERUM | DEFICIENCY | NOMENCLATURE | RETARDATION | GENE | MUTATIONS | SPECTRUM | Humans | Isoelectric Focusing | Apolipoprotein C-III - metabolism | Apolipoprotein C-III - genetics | Glycosylation | Congenital Disorders of Glycosylation - metabolism | Transferrin - metabolism | Transferrin - genetics | Congenital Disorders of Glycosylation - genetics | Medical screening | Transferrin | Genetic disorders | Disorders
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2. Full Text Congenital disorders of glycosylation (CDG): it's (nearly) all in it
by Jaeken, Jaak
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 08/2011, Volume 34, Issue 4, pp. 853 - 858
Congenital disorders of glycosylation (CDG) is a booming class of metabolic diseases. Its number has increased nearly fourfold (to 45) since 2003, the year of... 
MEDICINE, RESEARCH & EXPERIMENTAL | AUTOSOMAL RECESSIVE SYNDROME | MENTAL-RETARDATION | DEFECT | PHENOTYPE | DEFICIENCY | CUTIS LAXA | NOMENCLATURE | GENE | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | LEADS | MUTATIONS | Carbohydrate Sequence | Congenital Disorders of Glycosylation - etiology | Diagnosis, Differential | Congenital Disorders of Glycosylation - classification | Models, Biological | Humans | Terminology as Topic | Carbohydrate Metabolism, Inborn Errors - classification | Glycosylation | Congenital Disorders of Glycosylation - genetics | Carbohydrate Metabolism, Inborn Errors - diagnosis | Congenital Disorders of Glycosylation - diagnosis | Genetic disorders
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3. Full Text What is new in CDG?
by Jaeken, Jaak and Péanne, Romain
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 7/2017, Volume 40, Issue 4, pp. 569 - 586
Congenital disorders of glycosylation (CDG) are one group among the disorders of glycosylation. The latter comprise defects associated with hypoglycosylation... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | GENETIC-DEFECTS | MUSCULAR-DYSTROPHY | SIALIC-ACID | DEFICIENCY | INTELLECTUAL DISABILITY | GOLGI HOMEOSTASIS | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | CONGENITAL DISORDERS | MUTATIONS | GLYCOSYLATION CDG | CLINICAL PHENOTYPE | Biomarkers - metabolism | Congenital Disorders of Glycosylation - therapy | Phenotype | Humans | Liver | Genotype | Golgi Apparatus - metabolism | Glycosylation | Mutation | Congenital Disorders of Glycosylation - genetics | Congenital Disorders of Glycosylation - diagnosis | Genetic disorders | Congenital diseases | Glycosyltransferase | Defects
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4. Full Text Erratum to: What is new in CDG? (Journal of Inherited Metabolic Disease, (2017), 40, 4, (569-586), 10.1007/s10545-017-0050-6)
by Jaeken, Jaak and Péanne, Romain
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 07/2017, Volume 40, Issue 4, pp. 621 - 625
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5. The Carbohydrate-deficient glycoprotein syndrome
: a new inherited multisystematic disease with severe nervous system involvement
by Jaeken, Jaak and Stibler, Helena and Hagberg, Bengt
1991, Volume 375., 71
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6. Full Text Erratum to: What is new in CDG?
by Jaeken, Jaak and Péanne, Romain
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 7/2017, Volume 40, Issue 4, pp. 621 - 625
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10545-017-0068-9 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases
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7. Full Text Congenital disorders of glycosylation (CDG): it’s (nearly) all in it
by Jaeken, Jaak
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 8/2011, Volume 34, Issue 4, pp. 853 - 858
Congenital disorders of glycosylation (CDG) is a booming class of metabolic diseases. Its number has increased nearly fourfold (to 45) since 2003, the year of... 
Biochemistry, general | Human Genetics | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases
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8. Full Text Congenital disorders of glycosylation: A rapidly expanding disease family
by Jaeken, Jaak and Matthijs, Gert
Annual Review of Genomics and Human Genetics, ISSN 1527-8204, 2007, Volume 8, Issue 1, pp. 261 - 278
Congenital disorders of glycosylation (CDG) are a large family of genetic diseases resulting from defects in the synthesis of glycans and in the attachment of... 
Lipid hypoglycosylation | O-glycan | CDG-x | N-glycan | Hyperglycosylation | CDG | ALPHA-DYSTROGLYCAN | MENTAL-RETARDATION | O-GLYCOSYLATION | WALKER-WARBURG-SYNDROME | MUSCULAR-DYSTROPHY | N-GLYCOSYLATION | lipid hypoglycosylation | LIPID-LINKED OLIGOSACCHARIDES | CUTIS LAXA | ABNORMAL GLYCOSYLATION | GENETICS & HEREDITY | hyperglycosylation | TUMORAL CALCINOSIS | Calcinosis - genetics | Hyperostosis - genetics | Lipid Metabolism, Inborn Errors - genetics | Humans | Protein Processing, Post-Translational - genetics | Glycosyltransferases - deficiency | Glycosylation | Carbohydrate Metabolism, Inborn Errors - genetics | Uridine Diphosphate N-Acetylgalactosamine - metabolism | Syndrome | Polysaccharides - metabolism | Membrane Transport Proteins - deficiency | Membrane Transport Proteins - genetics | Models, Biological | Cytidine Monophosphate N-Acetylneuraminic Acid - metabolism | Glycosyltransferases - genetics | Glycosylphosphatidylinositols - deficiency
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9. Full Text Clinical Utility Gene Card for: PGM3 defective congenital disorder of glycosylation
by Jaeken, J and Lefeber, DJ and Matthijs, G
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 11/2019, Volume 27, Issue 11, pp. 1757 - 1760
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in PGM3 in diagnostic, predictive and... 
MUTATIONS | IGE | BIOCHEMISTRY & MOLECULAR BIOLOGY | IMMUNODEFICIENCY | DEFICIENCY | GENETICS & HEREDITY | Risk assessment | Glycosylation
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10. Full Text MGAT2‐CDG (CDG‐IIa) and dysmorphism
by Jaeken, Jaak
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2012, Volume 158A, Issue 11, pp. 2974 - 2975
GROWTH-RETARDATION | MENTAL-RETARDATION | DEFICIENT | GENETICS & HEREDITY | Humans | Congenital Disorders of Glycosylation - genetics | Congenital Disorders of Glycosylation - diagnosis
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11. Full Text Clinical utility gene card for: ALG1 defective congenital disorder of glycosylation
by Jaeken, J and Lefeber, D.J and Matthijs, G
European Journal of Human Genetics, ISSN 1018-4813, 2015, Volume 23, Issue 10, pp. E1 - E3
N-GLYCOSYLATION | MUTATIONS | DEFICIENT GLYCOPROTEIN SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | CDG | GENETICS & HEREDITY | Glycosylation | Mannosyltransferases - genetics | Mutation - genetics | Humans | Congenital Disorders of Glycosylation - genetics | Clinical Utility Gene Card
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12. Full Text Clinical Utility Gene Card For: GALNT3 defective congenital disorder of glycosylation
by Jaeken, J and Lefeber, D.J and Matthijs, G
European Journal of Human Genetics, ISSN 1018-4813, 2018, Volume 26, Issue 8, pp. 1230 - 1233
FAMILIAL TUMORAL CALCINOSIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | HYPERPHOSPHATEMIA SYNDROME | GENETICS & HEREDITY | Glycosylation | Clinical Utility Gene Card
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13. Full Text How to find and diagnose a CDG due to defective N-glycosylation
by Lefeber, D.J and Morava, E and Jaeken, J
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 2011, Volume 34, Issue 4, pp. 849 - 852
Biochemistry, general | Human Genetics | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | CONGENITAL DISORDERS | SERUM | TRANSFERRIN | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | Carbohydrate Sequence | Congenital Disorders of Glycosylation - etiology | Models, Biological | Humans | Protein Processing, Post-Translational - genetics | Glycosylation | Mass Screening - methods | Congenital Disorders of Glycosylation - genetics | Congenital Disorders of Glycosylation - diagnosis
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14. Full Text Hypothesis: lobe A (COG1–4)-CDG causes a more severe phenotype than lobe B (COG5–8)-CDG
by Haijes, Hanneke A and Jaeken, Jaak and Foulquier, François and van Hasselt, Peter M
Journal of Medical Genetics, ISSN 0022-2593, 02/2018, Volume 55, Issue 2, pp. 137 - 142
The conserved oligomeric Golgi (COG) complex consists of eight subunits organized in two lobes: lobe A (COG1–4) and lobe B (COG5–8). The different functional... 
conserved oligomeric Golgi complex | Genetics(clinical) | CDG | Genetics | COG | Journal Article | congenital disorder(s) of glycosylation | SEC35P | COG COMPLEX | PROTEIN | MUTATION | GENETICS & HEREDITY | DEFICIENCY REVEALS | CONGENITAL DISORDER | GLYCOSYLATION | VESICLE DOCKING | OLIGOMERIC GOLGI-COMPLEX | SUBUNIT | Congenital Disorders of Glycosylation - etiology | Multiprotein Complexes - chemistry | Phenotype | Genetic Association Studies | Humans | Vesicular Transport Proteins - genetics | Adaptor Proteins, Vesicular Transport - genetics | Female | Male | Multiprotein Complexes - genetics | Mutation | Congenital Disorders of Glycosylation - genetics | Enzymes | Phenotypes | Congenital diseases | Glycosylation | Genetic diversity | Patients | Epidemiology | Golgi apparatus | Proteins | Genotype & phenotype | Hypotheses | Morphology | Fibroblasts | Protein expression
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15. Full Text Clinical utility gene card for: DPAGT1 defective congenital disorder of glycosylation
by Jaeken, Jaak and Lefeber, Dirk and Matthijs, Gert
European Journal of Human Genetics, ISSN 1018-4813, 12/2015, Volume 23, Issue 12, pp. e1 - e3
MYASTHENIC SYNDROME | DIAGNOSIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | PHENOTYPE | N-GLYCOSYLATION | CDG-IJ | MUTATIONS | IDENTIFICATION | N-Acetylglucosaminyltransferases - genetics | Congenital Disorders of Glycosylation - epidemiology | Genetic Testing - methods | Humans | Congenital Disorders of Glycosylation - genetics | Congenital Disorders of Glycosylation - diagnosis | Clinical Utility Gene Card
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16. Full Text Multiple Phenotypes in Phosphoglucomutase 1 Deficiency
by Tegtmeyer, Laura C and Rust, Stephan and van Scherpenzeel, Monique and Ng, Bobby G and Losfeld, Marie-Estelle and Timal, Sharita and Raymond, Kimiyo and He, Ping and Ichikawa, Mie and Veltman, Joris and Huijben, Karin and Shin, Yoon S and Sharma, Vandana and Adamowicz, Maciej and Lammens, Martin and Reunert, Janine and Witten, Anika and Schrapers, Esther and Matthijs, Gert and Jaeken, Jaak and Rymen, Daisy and Stojkovic, Tanya and Laforêt, Pascal and Petit, François and Aumaître, Olivier and Czarnowska, Elzbieta and Piraud, Monique and Podskarbi, Teodor and Stanley, Charles A and Matalon, Reuben and Burda, Patricie and Seyyedi, Soraya and Debus, Volker and Socha, Piotr and Sykut-Cegielska, Jolanta and van Spronsen, Francjan and de Meirleir, Linda and Vajro, Pietro and DeClue, Terry and Ficicioglu, Can and Wada, Yoshinao and Wevers, Ron A and Vanderschaeghe, Dieter and Callewaert, Nico and Fingerhut, Ralph and van Schaftingen, Emile and Freeze, Hudson H and Morava, Eva and Lefeber, Dirk J and Marquardt, Thorsten
The New England Journal of Medicine, ISSN 0028-4793, 02/2014, Volume 370, Issue 6, pp. 533 - 542
Two brothers with an undefined congenital disorder of glycosylation were found to have phosphoglucomutase 1 deficiency, which has previously been described as... 
MUSCLE GLYCOGENOSIS | MEDICINE, GENERAL & INTERNAL | THERAPY | GLYCOGEN-STORAGE-DISEASE | GLUCOSE | NUCLEOTIDE SUGARS | CONGENITAL DISORDERS | DILATED CARDIOMYOPATHY | GLYCOSYLATION | IDENTIFICATION | CHILDREN | Physiological aspects | Glycosylation | Genetic aspects | Genetic disorders | Research | Phosphoglucomutase | Growth rate | Cardiomyopathy | Genotype & phenotype | Polysaccharides | Glycogenosis | Enzymatic activity | Metabolites | Fibroblasts | Carbohydrates | Enzymes | Phenotypes | Congenital diseases | Malignant hyperthermia | Glycogen | Dietary supplements | Mass spectroscopy | N-glycans | Hypoglycemia | Hypogonadism | Hereditary diseases | Dilated cardiomyopathy | Mutation | Gene mapping | Galactose | Hyperthermia | Myopathy
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17. Full Text Recognizable phenotypes in CDG
by Ferreira, Carlos R and Altassan, Ruqaia and Marques-Da-Silva, Dorinda and Francisco, Rita and Jaeken, Jaak and Morava, Eva
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 5/2018, Volume 41, Issue 3, pp. 541 - 553
Pattern recognition, using a group of characteristic, or discriminating features, is a powerful tool in metabolic diagnostic. A classic example of this... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Medical research | Genetic disorders | Analysis | Medical genetics | Resveratrol | Medicine, Experimental | Genetic aspects | Biochemical genetics | Urine | Metabolomics | Biochemical analysis | Congenital diseases | Phenotyping | Glycosylation | Pattern recognition | serum transferrin | syndrome | therapy | diagnosis | Congenital disorders of glycosylation | O-linked hypoglycosylation | phenomics
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18. Full Text Clinical utility gene card for: ALG6 defective congenital disorder of glycosylation
by Jaeken, J and Lefeber, D.J and Matthijs, G
European Journal of Human Genetics, ISSN 1018-4813, 2015, Volume 23, Issue 2, pp. e1 - e3
ORIGIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUTATION | CDG | GENETICS & HEREDITY | PATIENT | N-GLYCOSYLATION | Membrane Proteins - deficiency | Genetic Testing | Membrane Proteins - genetics | Humans | Prenatal Diagnosis | Glucosyltransferases - deficiency | Congenital Disorders of Glycosylation - epidemiology | Mutation | Congenital Disorders of Glycosylation - genetics | Congenital Disorders of Glycosylation - diagnosis | Glucosyltransferases - genetics | Clinical Utility Gene Card
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