UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 411

Sortiert nach

Congenital disorders of glycosylation

Handbook of Clinical Neurology, 2013, Vol.113, p.1737-1743

Jaeken, J.

2013

Volltextzugriff (PDF)

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature

Journal of Inherited Metabolic Disease, 2017-03, Vol.40 (2), p.195-207

2017

Volltextzugriff (PDF)

The challenge of CDG diagnosis

Molecular genetics and metabolism, 2019-01, Vol.126 (1), p.1-5

2019

Volltextzugriff (PDF)

Skin manifestations in CDG

Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.699-708

2014

Volltextzugriff (PDF)

Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature

Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.657-672

2017

Volltextzugriff (PDF)

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

Orphanet journal of rare diseases, 2022-10, Vol.17 (1), p.1-398, Article 398

2022

Volltextzugriff (PDF)

Congenital disorders of glycosylation (CDG): It's all in it

Journal of inherited metabolic disease, 2003-03, Vol.26 (2-3), p.99-118

Jaeken, J.

2003

Volltextzugriff (PDF)

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

Orphanet journal of rare diseases, 2016-05, Vol.11 (1), p.65-65, Article 65

2016

Volltextzugriff (PDF)

MALDI‐MS profiling of serum O‐glycosylation and N‐glycosylation in COG5‐CDG

Journal of mass spectrometry., 2017-06, Vol.52 (6), p.372-377

2017

Volltextzugriff (PDF)

Assessing the effects of PMM2 variants on protein stability

Molecular genetics and metabolism, 2021-12, Vol.134 (4), p.344-352

2021

Volltextzugriff (PDF)

On the nomenclature of congenital disorders of glycosylation (CDG)

Journal of inherited metabolic disease, 2008-12, Vol.31 (6), p.669-672

2008

Volltextzugriff (PDF)

Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect

Journal of thrombosis and haemostasis, 2016-08, Vol.14 (8), p.1549-1560

2016

Volltextzugriff (PDF)

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

Clinical genetics, 2017-08, Vol.92 (2), p.188-198

2017

Volltextzugriff (PDF)

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

Journal of neurology, 2015-01, Vol.262 (1), p.154-164

2015

Volltextzugriff (PDF)

Troubles de la synthèse des aminoglycanes

Archives de pédiatrie (Paris), 1999, Vol.6, p.S203-S205

Jaeken, J.

1999

Volltextzugriff (PDF)

Congenital disorders of glycosylation (CDG): Update and new developments

Journal of inherited metabolic disease, 2004-05, Vol.27 (3), p.423-426

Jaeken, J.

2004

Volltextzugriff (PDF)

Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy

Neurology, 2012-05, Vol.78 (19), p.1512

2012

Volltextzugriff (PDF)

Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review

Journal of inherited metabolic disease, 2018-02, p.1-16

2018

Volltextzugriff (PDF)

The skeletal manifestations of the congenital disorders of glycosylation

Clinical genetics, 2008-06, Vol.73 (6), p.507-515

2008

Volltextzugriff (PDF)

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1

Human molecular genetics, 2009-02, Vol.18 (3), p.517-524

2009

Volltextzugriff (PDF)

Platelet Gs hypofunction and abnormal morphology resulting from a heterozygous RGS2 mutation

Journal of thrombosis and haemostasis, 2010-07, Vol.8 (7), p.1594-1603

2010

Volltextzugriff (PDF)

ALG11-CDG: Three novel mutations and further characterization of the phenotype

Molecular genetics and metabolism reports, 2015-03, Vol.2 (C), p.16-19

2015

Volltextzugriff (PDF)

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants

JIMD Reports, Volume 43, 2019, Vol.43, p.111-116

2019

Volltextzugriff (PDF)

An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study

JIMD Reports, Volume 44, 2019, Vol.44, p.55-64

2019

Volltextzugriff (PDF)

Proteomic analysis of platelet N -glycoproteins in PMM2-CDG patients

Thrombosis research, 2014-03, Vol.133 (3), p.412-417

2014

Volltextzugriff (PDF)

1 – 25 von 411

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(348)
Mit Volltextzugriff
(337)

Publikationsform

2 weitere anzeigen...

Weniger anzeigen...

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Congenital disorders of glycosylation

Liver involvement in congenital disorders of glycosylation (CDG). A systematic review of the literature

The challenge of CDG diagnosis

Skin manifestations in CDG

Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature

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

Congenital disorders of glycosylation (CDG): It's all in it

Childhood Pompe disease: clinical spectrum and genotype in 31 patients

MALDI‐MS profiling of serum O‐glycosylation and N‐glycosylation in COG5‐CDG

Assessing the effects of PMM2 variants on protein stability

On the nomenclature of congenital disorders of glycosylation (CDG)

Hypoglycosylation is a common finding in antithrombin deficiency in the absence of a SERPINC1 gene defect

Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data

A nationwide survey of PMM2-CDG in Italy: high frequency of a mild neurological variant associated with the L32R mutation

Troubles de la synthèse des aminoglycanes

Congenital disorders of glycosylation (CDG): Update and new developments

Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy

Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review

The skeletal manifestations of the congenital disorders of glycosylation

Cerebrocostomandibular-like syndrome and a mutation in the conserved oligomeric Golgi complex, subunit 1

Platelet Gs hypofunction and abnormal morphology resulting from a heterozygous RGS2 mutation

ALG11-CDG: Three novel mutations and further characterization of the phenotype

RFT1-CDG: Absence of Epilepsy and Deafness in Two Patients with Novel Pathogenic Variants

An Electronic Questionnaire for Liver Assessment in Congenital Disorders of Glycosylation (LeQCDG): A Patient-Centered Study

Proteomic analysis of platelet N -glycoproteins in PMM2-CDG patients

Suchergebnisse filtern