Research & Literature

High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation.

van Scherpenzeel M, Steenbergen G, Morava E, et al.

Translational research : the journal of laboratory and clinical medicine 2015; (166(6)):639-649.e1.

Further Delineation of the ALG9-CDG Phenotype.

AlSubhi S, AlHashem A, AlAzami A, et al.

JIMD reports 2016; (27()):107-12 doi:10.1007/8904_2015_504.

[Clinical and genetic analysis for two children with congenital disturbance of glycosylation with PMM2 gene mutations].

Ren C, Fang F, Huang Y, et al.

Zhonghua er ke za zhi = Chinese journal of pediatrics 2015; (53(12)):938-42.

ALG13-CDG in a male with seizures, normal cognitive development, and normal transferrin isoelectric focusing.

Gadomski TE, Bolton M, Alfadhel M, et al.

American journal of medical genetics. Part A 2017; (173(10)):2772-2775 doi:10.1002/ajmg.a.38377.

A quantitative assessment of the evolution of cerebellar syndrome in children with phosphomannomutase-deficiency (PMM2-CDG).

Serrano NL, De Diego V, Cuadras D, et al.

Orphanet journal of rare diseases 2017; (12(1)):155 doi:10.1186/s13023-017-0707-0.

Nutritional Therapies in Congenital Disorders of Glycosylation (CDG).

Witters P, Cassiman D, Morava E

Nutrients 2017; (9(11)) doi:10.3390/nu9111222.

Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders.

Gardeitchik T, Wyckmans J, Morava E

Pediatric clinics of North America 2018; (65(2)):375-388 doi:10.1016/j.pcl.2017.11.012.

A novel homozygous mutation in the mannose phosphate isomerase gene causing congenital disorder of glycation and hyperinsulinemic hypoglycemia in an infant.

Deeb A, Al Amoodi A

Clinical case reports 2018; (6(3)):479-483 doi:10.1002/ccr3.1387.

High-resolution capillary zone electrophoresis for transferrin glycoform analysis associated with congenital disorders of glycosylation.

Tobler M, Caslavska J, Burda P, Thormann W

Journal of separation science 2018; (41(13)):2808-2818 doi:10.1002/jssc.201800082.

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report.

Westenfield K, Sarafoglou K, Speltz LC, et al.

BMC medical genetics 2018; (19(1)):100 doi:10.1186/s12881-018-0617-6.

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.

Abu Bakar N, Voermans NC, Marquardt T, et al.

Translational research : the journal of laboratory and clinical medicine 2018; (199()):62-76 doi:10.1016/j.trsl.2018.04.008.

Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.

Asteggiano CG, Papazoglu M, Bistué Millón MB, et al.

Pediatric research 2018; (84(6)):837-841 doi:10.1038/s41390-018-0206-6.

Compound heterozygous variants in MOGS inducing congenital disorders of glycosylation (CDG) IIb.

Li M, Xu Y, Wang Y, et al.

Journal of human genetics 2019; (64(3)):265-268 doi:10.1038/s10038-018-0552-6.

[Exome diagnostics in neurology].

Zech M, Wagner M, Schormair B, et al.

Der Nervenarzt 2019; (90(2)):131-137 doi:10.1007/s00115-018-0667-1.

Congenital disorders of glycosylation.

Chang IJ, He M, Lam CT

Annals of translational medicine 2018; (6(24)):477 doi:10.21037/atm.2018.10.45.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Altassan R, Péanne R, Jaeken J, et al.

Journal of inherited metabolic disease 2019; (42(1)):5-28 doi:10.1002/jimd.12024.

Hyperkinetic movement disorders: expanding the phenotype of congenital disorders of glycosylation.

Pandey S, Chouksey A

European journal of neurology 2019; (26(9)):1141-1142 doi:10.1111/ene.14013.

Unsuccessful intravenous D-mannose treatment in PMM2-CDG.

Grünert SC, Marquardt T, Lausch E, et al.

Orphanet journal of rare diseases 2019; (14(1)):231 doi:10.1186/s13023-019-1213-3.

Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.

Moravej H, Altassan R, Jaeken J, et al.

JIMD reports 2020; (51(1)):76-81 doi:10.1002/jmd2.12085.

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.

Witters P, Tahata S, Barone R, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(6)):1102-1107 doi:10.1038/s41436-020-0767-8.

An overlooked case of a treatable hyperinsulinemic hypoglycemia: congenital glycosylation defect Type Ib.

Haznedar P, Eminoğlu FT

Turk pediatri arsivi 2020; (55(1)):79-81 doi:10.5152/TurkPediatriArs.2018.18004.

CDG biochemical screening: Where do we stand?

Bruneel A, Cholet S, Tran NT, et al.

Biochimica et biophysica acta. General subjects 2020; (1864(10)):129652 doi:10.1016/j.bbagen.2020.129652.

Matrix-Assisted Laser Desorption/Ionization Mass Spectrometry to Detect Diagnostic Glycopeptide Markers of Congenital Disorders of Glycosylation.

Wada Y

Mass spectrometry (Tokyo, Japan) 2020; (9(1)):A0084 doi:10.5702/massspectrometry.A0084.

Screening for abnormal glycosylation in a cohort of adult liver disease patients.

Jansen JC, van Hoek B, Metselaar HJ, et al.

Journal of inherited metabolic disease 2020; (43(6)):1310-1320 doi:10.1002/jimd.12273.

New and potential strategies for the treatment of PMM2-CDG.

Gámez A, Serrano M, Gallego D, et al.

Biochimica et biophysica acta. General subjects 2020; (1864(11)):129686 doi:10.1016/j.bbagen.2020.129686.

Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report.

Slaba K, Noskova H, Vesela P, et al.

Frontiers in genetics 2020; (11()):561054 doi:10.3389/fgene.2020.561054.

Liver manifestations in a cohort of 39 patients with congenital disorders of glycosylation: pin-pointing the characteristics of liver injury and proposing recommendations for follow-up.

Starosta RT, Boyer S, Tahata S, et al.

Orphanet journal of rare diseases 2021; (16(1)):20 doi:10.1186/s13023-020-01630-2.

Experiences of parents with children with congenital disorders of glycosylation: What can we learn from them?

Cardão C, Barros L, Francisco R, et al.

Disability and health journal 2021; (14(3)):101065 doi:10.1016/j.dhjo.2021.101065.

Transferrin isoform analysis from dried blood spots and serum samples by gel isoelectric focusing for screening congenital disorders of glycosylation.

Bogdańska A, Kozłowski D, Pajdowska M, et al.

Acta biochimica Polonica 2021; (68(1)):139-142 doi:10.18388/abp.2020_5576.

Should patients with Phosphomannomutase 2-CDG (PMM2-CDG) be screened for adrenal insufficiency?

Čechová A, Honzík T, Edmondson AC, et al.

Molecular genetics and metabolism 2021; (133(4)):397-399 doi:10.1016/j.ymgme.2021.06.003.

A spoonful of L-fucose-an efficient therapy for GFUS-CDG, a new glycosylation disorder.

Feichtinger RG, Hüllen A, Koller A, et al.

EMBO molecular medicine 2021; (13(9)):e14332 doi:10.15252/emmm.202114332.

Congenital Disorders of Glycosylation: What Clinicians Need to Know?

Lipiński P, Tylki-Szymańska A

Frontiers in pediatrics 2021; (9()):715151 doi:10.3389/fped.2021.715151.

Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.

Ligezka AN, Radenkovic S, Saraswat M, et al.

Annals of neurology 2021; (90(6)):887-900 doi:10.1002/ana.26245.

Stroke-Like Episodes in PMM2-CDG: When the Lack of Other Evidence Is the Only Evidence.

Serrano M

Frontiers in pediatrics 2021; (9()):717864 doi:10.3389/fped.2021.717864.

Structural Analysis of the Effect of Asn107Ser Mutation on Alg13 Activity and Alg13-Alg14 Complex Formation and Expanding the Phenotypic Variability of ALG13-CDG.

Mitusińska K, Góra A, Bogdańska A, et al.

Biomolecules 2022; (12(3)) doi:10.3390/biom12030398.

Stakeholders' views on drug development: the congenital disorders of glycosylation community perspective.

Monticelli M, Francisco R, Brasil S, et al.

Orphanet journal of rare diseases 2022; (17(1)):303 doi:10.1186/s13023-022-02460-0.

[Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency].

Zhou SY

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2023; (25(2)):223-228 doi:10.7499/j.issn.1008-8830.2209049.

Mannose phosphate isomerase gene mutation leads to a congenital disorder of glycosylation: A rare case report and literature review.

Lu S, Liang S, Wu Y, et al.

Frontiers in pediatrics 2023; (11()):1150367 doi:10.3389/fped.2023.1150367.

Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.

De Graef D, Ligezka AN, Rezents J, et al.

Molecular genetics and metabolism 2023; (139(2)):107606 doi:10.1016/j.ymgme.2023.107606.

DPAGT1-CDG: Recurrent fetal death.

Tao H, Sun Y, Zhai J, Wu J

Birth defects research 2023; (115(13)):1185-1191 doi:10.1002/bdr2.2219.

Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.

Wicker C, Roux CJ, Goujon L, et al.

Molecular genetics and metabolism 2023; (140(3)):107674 doi:10.1016/j.ymgme.2023.107674.

A Case of Congenital Disorder of Glycosylation Type 1b Presenting as Hyperinsulinemic Hypoglycemia and Failure to Thrive.

Rani S, Sahai I, Misra M

JCEM case reports 2023; (1(5)):luad109 doi:10.1210/jcemcr/luad109.

Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.

Muthusamy K, Perez-Ortiz JM, Ligezka AN, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2024; (26(2)):101027 doi:10.1016/j.gim.2023.101027.

AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG).

Zhong M, Balakrishnan B, Guo AJ, Lai K

Molecular genetics and metabolism reports 2024; (38()):101035 doi:10.1016/j.ymgmr.2023.101035.

Genetic counseling for congenital disorders of glycosylation (CDG).

Weixel T, Wolfe L, Macnamara EF

Journal of genetic counseling 2024; (33(6)):1358-1364 doi:10.1002/jgc4.1856.

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis.

Cirnigliaro L, Pettinato F, Valle MS, et al.

Orphanet journal of rare diseases 2024; (19(1)):39 doi:10.1186/s13023-024-03027-x.

Motor improvement in children with PMM2-CDG syndrome following a six-month rehabilitation treatment utilising whole-body vibration; a retrospective study.

Bossier C, Stark C, Martakis K, et al.

Journal of musculoskeletal & neuronal interactions 2024; (24(1)):12-21.

Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS).

Poejo J, Gomes AI, Granjo P, Dos Reis Ferreira V

Orphanet journal of rare diseases 2024; (19(1)):98 doi:10.1186/s13023-024-03043-x.

Protein glycosylation in cardiovascular health and disease.

Chatham JC, Patel RP

Nature reviews. Cardiology 2024; (21(8)):525-544 doi:10.1038/s41569-024-00998-z.

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review.

Pascoal C, Francisco R, Mexia P, et al.

Frontiers in immunology 2024; (15()):1350101 doi:10.3389/fimmu.2024.1350101.

Impact of N-Glycosylation on Protein Structure and Dynamics Linked to Enzymatic C-H Activation in the M. oryzae Lipoxygenase.

Whittington C, Sharma A, Hill SG, et al.

Biochemistry 2024; (63(10)):1335-1346 doi:10.1021/acs.biochem.4c00109.

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

Budhraja R, Radenkovic S, Jain A, et al.

Molecular genetics and metabolism 2024; (142(2)):108487 doi:10.1016/j.ymgme.2024.108487.

Normal transferrin glycosylation does not rule out severe ALG1 deficiency.

Bosnyak I, Sadek M, Ranatunga W, et al.

JIMD reports 2024; (65(3)):135-143 doi:10.1002/jmd2.12415.

Genome and RNA sequencing were essential to reveal cryptic intronic variants associated to defective ATP6AP1 mRNA processing.

Morales-Romero B, Muñoz-Pujol G, Artuch R, et al.

Molecular genetics and metabolism 2024; (142(3)):108511 doi:10.1016/j.ymgme.2024.108511.

Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.

Zemet R, Hope KD, Edmondson AC, et al.

Molecular genetics and metabolism 2024; (142(4)):108513 doi:10.1016/j.ymgme.2024.108513.

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

Lam C, Scaglia F, Berry GT, et al.

Molecular genetics and metabolism 2024; (142(4)):108509 doi:10.1016/j.ymgme.2024.108509.

Neurodevelopmental profiles of 14 individuals with phosphomannomutase deficiency (PMM2-CDG).

Weixel T, Adedipe D, Muldoon G, et al.

Journal of inherited metabolic disease 2025; (48(1)):e12782 doi:10.1002/jimd.12782.

Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation.

Interdonato L, Himmelreich N, Garbade SF, et al.

Molecular genetics and metabolism 2024; (143(1-2)):108571 doi:10.1016/j.ymgme.2024.108571.

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

Granjo P, Pascoal C, Gallego D, et al.

Orphanet journal of rare diseases 2024; (19(1)):407 doi:10.1186/s13023-024-03389-2.

Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations.

Holubova V, Barone R, Grunewald S, et al.

Journal of inherited metabolic disease 2025; (48(1)):e12826 doi:10.1002/jimd.12826.

Congenital disorders of glycosylation type 1A associated with cerebral hemorrhagic infarction: illustrative case.

Nomura Y, Morita T, Ueno K, et al.

Journal of neurosurgery. Case lessons 2025; (9(1)).

Diagnostic and Therapeutic Approaches in Congenital Disorders of Glycosylation.

Raynor A, Lebredonchel É, Foulquier F, et al.

Handbook of experimental pharmacology 2025; (288()):211-241 doi:10.1007/164_2025_745.

Mannose phosphate isomerase-congenital disorder of glycosylation leads to asymptomatic hypoglycemia.

Luo C, Peng D, Li Y, et al.

Molecular genetics and metabolism reports 2024; (41()):101162 doi:10.1016/j.ymgmr.2024.101162.

Diagnostic impact of whole exome sequencing in neurometabolic disorders in Syrian children: a single center experience.

Al Khudari R, Baqla S, Al Asmar D

Orphanet journal of rare diseases 2025; (20(1)):220 doi:10.1186/s13023-025-03732-1.

A recurrent c.953A>C (p. Gln318Pro) variant in ALG11 causing congenital disorder of glycosylation in Turkish population.

Kart PO, Demir O, Turkyilmaz A, et al.

Neurogenetics 2025; (26(1)):46 doi:10.1007/s10048-025-00826-7.

Multiorgan involvement and genetic spectrum of 20 Chinese patients with PMM2-CDG.

Zhang H, Zhang J, Ma W, et al.

Molecular genetics and metabolism 2025; (145(4)):109178 doi:10.1016/j.ymgme.2025.109178.

Advancement in Clinical Glycomics and Glycoproteomics for Congenital Disorders of Glycosylation: Progress and Challenges Ahead.

Abu Bakar N, Hamzan NI

Biomedicines 2025; (13(8)) doi:10.3390/biomedicines13081964.

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation.

Ødum SF, Grønborg SW, Main KM, Klose M

JCEM case reports 2025; (3(11)):luaf237 doi:10.1210/jcemcr/luaf237.

Congenital disorder of glycosylation type IIb in an infant with developmental and epileptic encephalopathy.

Shwetabh RK, Singh A, Mandal K, et al.

BMJ case reports 2025; (18(11)) doi:10.1136/bcr-2025-268902.