Search the collection

29 results for PMM2‐CDG

Sort by:

Sort by

Limit results to:

20 per page

29 results for PMM2‐CDG

Export to excel

Export record to excel

File type to download

Beta version

Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 1
ArticlesPeer ReviewedFull Text
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG
Author / Creator:Pajusalu, Sander ; Vals, Mari-Anne ; Serrano, Mercedes ; Witters, Peter ; Cechova, Anna ; Honzik, Tomáš ; Edmondson, Andrew C. ; Ficicioglu, Can ; Barone, Rita ; De Lonlay, Pascale ; Bérat, Claire-Marine ; Vuillaumier-Barrot, Sandrine ; Lam, Christina ; Patterson, Marc C. ; Janssen, Mirian C. H. ; Martins, Esmeralda ; Quelhas, Dulce ; Sykut-Cegielska, Jolanta ; Mousa, Jehan ; Urreizti, Roser ; McWilliams, Peter ; Vernhes, Frederique ; Plotkin, Horacio ; Morava, Eva ; Õunap, Katrin
Publisher:United States: John Wiley & Sons, Inc
Journal title:Human mutation, 2024, Vol.2024 (1), p.8813121
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 2
ArticlesPeer ReviewedFull Text
PMM2‐CDG and nephrotic syndrome: A case report
Author / Creator:Banderali, Giuseppe ; Salvatici, Elisabetta ; Rovelli, Valentina ; Jaeken, Jaak
Publisher:England: John Wiley & Sons, Inc
Journal title:Clinical case reports, 2022-02, Vol.10 (2), p.e05347-n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 3
ArticlesPeer ReviewedFull Text
Recurrent fetal truncus arteriosus associated with PMM2‐CDG
Author / Creator:Malheiro, Filipa ; Silva, Manuela ; Macedo, Carlos ; Ramalho, Carla
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2021-05, Vol.59 (1), p.120-121
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 4
ArticlesPeer ReviewedFull Text
The development of end stage renal disease in two patients with PMM2‐CDG
Author / Creator:Tiwary, Henna ; Hecht, Leah E. ; Brucker, William J. ; Berry, Gerard T. ; Rodig, Nancy M.
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2022-03, Vol.63 (2), p.131-136
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 5
ArticlesPeer ReviewedFull Text
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2‐CDG)
Author / Creator:Vega, Ana Isabel ; Pérez‐Cerdá, Celia ; Abia, David ; Gámez, Alejandra ; Briones, Paz ; Artuch, Rafael ; Desviat, Lourdes R. ; Ugarte, Magdalena ; Pérez, Belén
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2011-08, Vol.34 (4), p.929-939
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 6
ArticlesPeer ReviewedFull Text
PMM2‐CDG caused by uniparental disomy: Case report and literature review
Author / Creator:Vaes, Laurien ; Tiller, George E. ; Pérez, Belén ; Boyer, Suzanne W. ; Berry, Susan A. ; Sarafoglou, Kyriakie ; Morava, Eva
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2020-07, Vol.54 (1), p.16-21
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 7
ArticlesPeer ReviewedFull Text
Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan
Author / Creator:Okamoto, Nobuhiko ; Kadoya, Machiko ; Wada, Yoshinao
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2025-05, Vol.66 (3), p.e70011-n/a
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 8
ArticlesPeer ReviewedFull Text
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
Author / Creator:Moravej, Hossein ; Altassan, Ruqaiah ; Jaeken, Jaak ; Enns, Gregory M. ; Ellaway, Carolyn ; Balasubramaniam, Shanti ; De Lonlay, Pascale ; Coman, David ; Mercimek‐Andrews, Saadet ; Witters, Peter ; Morava, Eva
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2020-01, Vol.51 (1), p.76-81
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 9
ArticlesPeer ReviewedFull Text
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature
Author / Creator:Qian, Zhen ; Van den Eynde, Jef ; Heymans, Stephane ; Mertens, Luc ; Morava, Eva
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2020-11, Vol.56 (1), p.27-33
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 10
ArticlesPeer ReviewedFull Text
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): Expression analysis of PMM2-CDG mutations
Author / Creator:Vega, Ana Isabel ; Pérez-Cerdá, Celia ; Abia, David ; Gámez, Alejandra ; Briones, Paz ; Artuch, Rafael ; Desviat, Lourdes R. ; Ugarte, Magdalena ; Pérez, Belén
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2011-08, Vol.34 (4), p.929-939
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 11
ArticlesPeer ReviewedFull Text
PMM2-CDG and sensorineural hearing loss
Author / Creator:Kasapkara, Çiğdem Seher ; Barış, Zeren ; Kılıç, Mustafa ; Yüksel, Deniz ; Keldermans, Lies ; Matthijs, Gert ; Jaeken, Jaak
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.629-630
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 12
ArticlesPeer ReviewedFull Text
Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
Author / Creator:de Diego, Víctor ; Martínez-Monseny, Antonio F. ; Muchart, Jordi ; Cuadras, Daniel ; Montero, Raquel ; Artuch, Rafael ; Pérez-Cerdá, Celia ; Pérez, Belén ; Pérez-Dueñas, Belén ; Poretti, Andrea ; Serrano, Mercedes
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.709-713
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 13
ArticlesPeer ReviewedFull Text
Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG
Author / Creator:Thompson, Dorothy A. ; Lyons, Ruth J. ; Russell-Eggitt, Isabelle ; Liasis, Alki ; Jägle, Herbert ; Grünewald, Stephanie
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2013-11, Vol.36 (6), p.1039-1047
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 14
ArticlesPeer ReviewedFull Text
Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)
Author / Creator:de Diego, Víctor ; Martínez-Monseny, Antonio F. ; Muchart, Jordi ; Cuadras, Daniel ; Montero, Raquel ; Artuch, Rafael ; Pérez-Cerdá, Celia ; Pérez, Belén ; Pérez-Dueñas, Belén ; Poretti, Andrea ; Serrano, Mercedes
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.753-754
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 15
ArticlesPeer ReviewedFull Text
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals
Author / Creator:Pascoal, C. ; Ferreira, I. ; Teixeira, C. ; Almeida, E. ; Slade, A. ; Brasil, S. ; Francisco, R. ; Ligezka, A. N. ; Morava, E. ; Plotkin, H. ; Jaeken, J. ; Videira, P. A. ; Barros, L. ; dos Reis Ferreira, V.
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-10, Vol.17 (1), p.1-398, Article 398
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 16
ArticlesPeer ReviewedFull Text
A Participatory Framework for Plain Language Clinical Management Guideline Development
Author / Creator:Francisco, Rita ; Alves, Susana ; Gomes, Catarina ; Granjo, Pedro ; Pascoal, Carlota ; Brasil, Sandra ; Neves, Alice ; Santos, Inês ; Miller, Andrea ; Krasnewich, Donna ; Morava, Eva ; Lam, Christina ; Jaeken, Jaak ; Videira, Paula A. ; dos Reis Ferreira, Vanessa
Publisher:Switzerland: MDPI AG
Journal title:International journal of environmental research and public health, 2022-10, Vol.19 (20), p.13506
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 17
ArticlesPeer ReviewedFull Text
Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review
Author / Creator:Footitt, E. J. ; Karimova, A. ; Burch, M. ; Yayeh, T. ; Dupré, T. ; Vuillaumier-Barrot, S. ; Chantret, I. ; Moore, S. E. H. ; Seta, N. ; Grunewald, S.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.313-319
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 18
ArticlesPeer ReviewedFull Text
Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG)
Author / Creator:Sakai, Wataru ; Yoshikawa, Yusuke ; Tokinaga, Yasuyuki ; Yamakage, Michiaki
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:JA clinical reports, 2017-02, Vol.3 (1), p.8-8, Article 8
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 19
ArticlesPeer ReviewedFull Text
Recognizable phenotypes in CDG
Author / Creator:Ferreira, Carlos R. ; Altassan, Ruqaia ; Marques-Da-Silva, Dorinda ; Francisco, Rita ; Jaeken, Jaak ; Morava, Eva
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-05, Vol.41 (3), p.541-553
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.
Export this record
Export to excel
Print
Export record to excel
File type to download
Beta version
Select record 20
ArticlesPeer ReviewedFull Text
Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG
Author / Creator:Bengtson, Per ; Ng, Bobby G. ; Jaeken, Jaak ; Matthijs, Gert ; Freeze, Hudson H. ; Eklund, Erik A.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-01, Vol.39 (1), p.107-114
View online as a Library member
Access ebook if you are in the Library. Registered NSW residents may log in from home.

Showing 1 to 20 of 29 results

Export record to excel

Export this record

Export record to excel

Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG

Export this record

Export record to excel

PMM2‐CDG and nephrotic syndrome: A case report

Export this record

Export record to excel

Recurrent fetal truncus arteriosus associated with PMM2‐CDG

Export this record

Export record to excel

The development of end stage renal disease in two patients with PMM2‐CDG

Export this record

Export record to excel

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2‐CDG)

Export this record

Export record to excel

PMM2‐CDG caused by uniparental disomy: Case report and literature review

Export this record

Export record to excel

Clinical and Molecular Features of Patients With Congenital Disorders of Glycosylation in Japan

Export this record

Export record to excel

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

Export this record

Export record to excel

Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature

Export this record

Export record to excel

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): Expression analysis of PMM2-CDG mutations

Export this record

Export record to excel

PMM2-CDG and sensorineural hearing loss

Export this record

Export record to excel

Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

Export this record

Export record to excel

Retinal characteristics of the congenital disorder of glycosylation PMM2-CDG

Export this record

Export record to excel

Erratum to: Longitudinal volumetric and 2D assessment of cerebellar atrophy in a large cohort of children with phosphomannomutase deficiency (PMM2-CDG)

Export this record

Export record to excel

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals

Export this record

Export record to excel

A Participatory Framework for Plain Language Clinical Management Guideline Development

Export this record

Export record to excel

Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review

Export this record

Export record to excel

Anesthetic management of a child with phosphomannomutase-2 congenital disorder of glycosylation (PMM2-CDG)

Export this record

Export record to excel

Recognizable phenotypes in CDG

Export this record

Export record to excel

Serum transferrin carrying the xeno-tetrasaccharide NeuAc-Gal-GlcNAc2 is a biomarker of ALG1-CDG

Refine your search