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Select item 112516931.

Clinical and Biochemical Footprints of Congenital Disorders of Glycosylation: Proposed Nosology

Bobby G. Ng, Hudson H. Freeze, Nastassja Himmelreich, Nenad Blau, Carlos R. Ferreira

Mol Genet Metab. Author manuscript; available in PMC 2024 Jul 16.

Published in final edited form as: Mol Genet Metab. 2024 May; 142(1): 108476. Published online 2024 Apr 10. doi: 10.1016/j.ymgme.2024.108476

PMCID:: PMC11251693

Abstract Article PDF–1.4M

Select item 110191432.

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2

Shiqi Fan, Huanhuan Wu, Rongrong Wang, Qian Chen, Xue Zhang

Mol Genet Genomic Med. 2024 Apr; 12(4): e2422. Published online 2024 Apr 15. doi: 10.1002/mgg3.2422

PMCID:: PMC11019143

Abstract Article PDF–3.0M

Select item 106148363.

Quantitative mapping of the in vivo O-GalNAc glycoproteome in mouse tissues identifies GalNAc-T2 O-glycosites in metabolic disorder

Weiming Yang, E. Tian, Aliona Chernish, Peggy McCluggage, Kruti Dalal, Alexander Lara, Kelly G. Ten Hagen, Lawrence A. Tabak

Proc Natl Acad Sci U S A. 2023 Oct 24; 120(43): e2303703120. Published online 2023 Oct 20. doi: 10.1073/pnas.2303703120

PMCID:: PMC10614836

Abstract Article PDF–6.1M

Select item 105690594.

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl Inositol deficiency due to a PIGM promoter mutation

Ben Pode-Shakked, Gali Heimer, Thierry Vilboux, Dina Marek-Yagel, Bruria Ben-Zeev, Mariska Davids, Carlos R. Ferreira, Amit Mary Philosoph, Alvit Veber, Naomi Pode-Shakked, Gili Kenet, Michalle Soudack, Chen Hoffmann, Helly Vernitsky, Marina Safaniev, Maya Lodzki, Avishay Lahad, Dror S. Shouval, Dana Levinkopf, Batia Weiss, Assaf Arie Barg, Ayman Daka, Ninette Amariglio, May Christine V. Malicdan, William A. Gahl, Yair Anikster

Mol Genet Metab. Author manuscript; available in PMC 2023 Oct 12.

Published in final edited form as: Mol Genet Metab. 2019 Sep-Oct; 128(1-2): 151–161. Published online 2019 Aug 14. doi: 10.1016/j.ymgme.2019.08.003

PMCID:: PMC10569059

Abstract Article PDF–2.0M

Select item 105306575.

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

Diederik de Graef, Anna N. Ligezka, Joseph Rezents, Gina L. Mazza, Graeme Preston, Kaitlin Schwartz, Wirginia Krzysciak, Christina Lam, Andrew C Edmondson, Christin Johnsen, Tamas Kozicz, Eva Morava

Mol Genet Metab. Author manuscript; available in PMC 2024 Jun 1.

Published in final edited form as: Mol Genet Metab. 2023 Jun; 139(2): 107606. Published online 2023 May 9. doi: 10.1016/j.ymgme.2023.107606

PMCID:: PMC10530657

Abstract Article PDF–331K

Select item 104878876.

Features of Congenital Arthrogryposis Due to Abnormalities in Collagen Homeostasis, a Scoping Review

Sarah MacKenzie Picker, George Parker, Paul Gissen

Int J Mol Sci. 2023 Sep; 24(17): 13545. Published online 2023 Aug 31. doi: 10.3390/ijms241713545

PMCID:: PMC10487887

Abstract Article PDF–1.0M

Select item 104623907.

The O-GlcNAc cycling in neurodevelopment and associated diseases

Dawn M. Wenzel, Stephanie Olivier-Van Stichelen

Biochem Soc Trans. Author manuscript; available in PMC 2023 Aug 28.

Published in final edited form as: Biochem Soc Trans. 2022 Dec 16; 50(6): 1693–1702. doi: 10.1042/BST20220539

PMCID:: PMC10462390

Abstract Article PDF–921K

Select item 103139138.

Tracer metabolomics reveals the role of aldose reductase in glycosylation

Silvia Radenkovic, Anna N. Ligezka, Sneha S. Mokashi, Karen Driesen, Lynn Dukes-Rimsky, Graeme Preston, Luckio F. Owuocha, Leila Sabbagh, Jehan Mousa, Christina Lam, Andrew Edmondson, Austin Larson, Matthew Schultz, Pieter Vermeersch, David Cassiman, Peter Witters, Lesa J. Beamer, Tamas Kozicz, Heather Flanagan-Steet, Bart Ghesquière, Eva Morava

Cell Rep Med. 2023 Jun 20; 4(6): 101056. Published online 2023 May 30. doi: 10.1016/j.xcrm.2023.101056

PMCID:: PMC10313913

Abstract Article PDF–6.1M

Select item 102984239.

Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG—An Observational Study and Literature Review

Michal Hutny, Patryk Lipinski, Aleksandra Jezela-Stanek

Genes (Basel) 2023 Jun; 14(6): 1208. Published online 2023 May 31. doi: 10.3390/genes14061208

PMCID:: PMC10298423

Abstract Article PDF–401K

Select item 1021869410.

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review

Federica Conte, Juda-El Sam, Dirk J. Lefeber, Robert Passier

Int J Mol Sci. 2023 May; 24(10): 8632. Published online 2023 May 11. doi: 10.3390/ijms24108632

PMCID:: PMC10218694

Abstract Article PDF–2.1M

Select item 1019204711.

AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase I deficiency (PGM1-CDG)

B Balakrishnan, R Altassan, R Budhraja, W Liou, A Lupo, S Bryant, A Mankouski, S Radenkovic, G Preston, A Pandey, S Boudina, T Kozicz, E Morava, K Lai

Transl Res. Author manuscript; available in PMC 2024 Jul 1.

Published in final edited form as: Transl Res. 2023 Jul; 257: 1–14. Published online 2023 Jan 26. doi: 10.1016/j.trsl.2023.01.004

PMCID:: PMC10192047

Abstract Article PDF–5.4M

Select item 1018238812.

Clinical and biochemical footprints of inherited metabolic diseases. XII. Immunological defects

Lonneke de Boer, Alessandra Cambi, Lilly M. Verhagen, Paola de Haas, Clara D.M. van Karnebeek, Nenad Blau, Carlos R. Ferreira

Mol Genet Metab. Author manuscript; available in PMC 2024 May 1.

Published in final edited form as: Mol Genet Metab. 2023 May; 139(1): 107582. Published online 2023 Apr 17. doi: 10.1016/j.ymgme.2023.107582

PMCID:: PMC10182388

Abstract Article PDF–517K

Select item 1018195313.

Phosphomannomutase 2 (PMM2) variants leading to hyperinsulinism-polycystic kidney disease are associated with early-onset inflammatory bowel disease and gastric antral foveolar hyperplasia

Fevronia Kiparissi, Antonia Dastamani, Liina Palm, Aline Azabdaftari, Luis Campos, Edward Gaynor, Stephanie Grünewald, Holm H. Uhlig, Robert Kleta, Detlef Böckenhauer, Kelsey D. J. Jones

Hum Genet. 2023; 142(5): 697–704. Published online 2023 Feb 11. doi: 10.1007/s00439-023-02523-7

PMCID:: PMC10181953

Abstract Article PDF–1.3M

Select item 1016434414.

Liver transplantation recovers hepatic N-glycosylation with persistent IgG glycosylation abnormalities: three-year follow-up in a patient with phosphomannomutase-2-congenital disorder of glycosylation

Shawn Tahata, Jody Weckwerth, Anna Ligezka, Miao He, Hee Eun Lee, Julie Heimbach, Samar H Ibrahim, Tamas Kozicz, Katryn Furuya, Eva Morava

Mol Genet Metab. Author manuscript; available in PMC 2024 Apr 1.

Published in final edited form as: Mol Genet Metab. 2023 Apr; 138(4): 107559. Published online 2023 Mar 17. doi: 10.1016/j.ymgme.2023.107559

PMCID:: PMC10164344

Abstract Article PDF–615K

Select item 1012410615.

High-throughput miRFluR platform identifies miRNA regulating B3GLCT that predict Peters’ Plus Syndrome phenotype, supporting the miRNA Proxy Hypothesis

Chu T. Thu, Jonathan Y. Chung, Deepika Dhawan, Christopher A. Vaiana, Lara K. Mahal

ACS Chem Biol. Author manuscript; available in PMC 2023 Apr 24.

Published in final edited form as: ACS Chem Biol. 2021 Oct 15; 16(10): 1900–1907. Published online 2021 Jun 4. doi: 10.1021/acschembio.1c00247

PMCID:: PMC10124106

Abstract Article PDF–1.2M

Select item 1009821416.

Syndromic forms of congenital hyperinsulinism

Martin Zenker, Klaus Mohnike, Katja Palm

Front Endocrinol (Lausanne) 2023; 14: 1013874. Published online 2023 Mar 30. doi: 10.3389/fendo.2023.1013874

PMCID:: PMC10098214

Abstract Article PDF–1.7M

Select item 1004717017.

Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association

Hana Alharbi, Earnest James Paul Daniel, Jenny Thies, Irene Chang, Dana L. Goldner, Bobby G. Ng, Peter Witters, Amal Aqul, Frances Velez-Bartolomei, Gregory M. Enns, Evelyn Hsu, Elizabeth Kichula, Esther Lee, Charles Lourenco, Sheri A Poskanzer, Sara Rasmussen, Katelyn Saarela, YunZu M. Wang, Kimiyo M. Raymond, Matthew J Schultz, Hudson H. Freeze, Christina Lam, Andrew C. Edmondson, Miao He

J Inherit Metab Dis. Author manuscript; available in PMC 2023 Mar 28.

Published in final edited form as: J Inherit Metab Dis. 2023 Mar; 46(2): 300–312. Published online 2023 Jan 29. doi: 10.1002/jimd.12589

PMCID:: PMC10047170

Abstract Article PDF–743K

Select item 995625318.

GDP-Mannose Pyrophosphorylase B (GMPPB)-Related Disorders

Pitcha Chompoopong, Margherita Milone

Genes (Basel) 2023 Feb; 14(2): 372. Published online 2023 Jan 31. doi: 10.3390/genes14020372

PMCID:: PMC9956253

Abstract Article PDF–10M

Select item 963338419.

A recurrent homozygous missense DPM3 variant leads to muscle and brain disease

Sara Nagy, Tracy Lau, Shahryar Alavi, Ehsan Ghayoor Karimiani, Jalal Vallian, Bobby G. Ng, Samaneh Noroozi Asl, Javad Akhondian, Amir Bahreini, Omid Yaghini, Prech Uapinyoying, Carsten Bonnemann, Hudson H. Freeze, Vajira H. W. Dissanayake, Nirmala D. Sirisena, Miriam Schmidts, Henry Houlden, Andres Moreno‐De‐Luca, Reza Maroofian

Clin Genet. 2022 Dec; 102(6): 530–536. Published online 2022 Aug 19. doi: 10.1111/cge.14208

PMCID:: PMC9633384

Abstract Article PDF–1.6M

Select item 947468420.

ALG8-CDG: molecular and phenotypic expansion suggests clinical management guidelines

Daniah Albokhari, Bobby G. Ng, Alis Guberinic, Earnest James Paul Daniel, Nicole M. Engelhardt, Rita Barone, Agata Fiumara, Livia Garavelli, Gabriele Trimarchi, Lynne Wolfe, Kimiyo M. Raymond, Eva Morava, Miao He, Hudson H. Freeze, Christina Lam, Andrew C. Edmondson

J Inherit Metab Dis. Author manuscript; available in PMC 2023 Sep 1.

Published in final edited form as: J Inherit Metab Dis. 2022 Sep; 45(5): 969–980. Published online 2022 Jun 30. doi: 10.1002/jimd.12527

PMCID:: PMC9474684

Abstract Article PDF–662K

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