Results 121 to 130 of about 3,636 (221)

Normal transferrin glycosylation does not rule out severe ALG1 deficiency

JIMD Reports
ALG1‐CDG is a rare, clinically variable metabolic disease, caused by the defect of adding the first mannose (Man) to N‐acetylglucosamine (GlcNAc2)‐pyrophosphate (PP)‐dolichol to the growing oligosaccharide chain, resulting in impaired N‐glycosylation of ...
Inez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, Tamas Kozicz, Eva Morava   +4 more
doaj   +1 more source

Role of N-glycosylation in oral cancer [PDF]

, 2017
Oral squamous cell carcinoma represents more than 90% head and neck cancers with high incidence rate and morbidity. To date, little is known about the molecular mechanisms responsible for OSCC initiation and progression to advanced disease.
Bukhari, Samah
core  

Congenital disorder of glycosylation Ib (CDG-Ib)

, 2005
Congenital Disorders of Glycosylation (CDG) sind eine Gruppe hereditärer Störungen der N-Glykosylierung. Gemeinsames Charakteristikum dieser Multisystemerkrankungen ist eine psychomotorische Retardierung. Eine Ausnahme bildet das im Rahmen dieser Arbeit entdeckte CDG-Ib. Hauptmerkmal dieser rezessiv vererbten Erkrankung ist eine exsudative Enteropathie.
openaire  

A Study on Glycosylation pattern of Serum Transferrin in patients with clinically suspected Congenital Glycosylation disorders [PDF]

, 2017
INTRODUCTION: Congenital disorder of glycosylation (CDG) is an inborn error of metabolism due to defective glycosylation of glycoproteins/glycolipids. It is a multisystem disorder with wide range of clinical presentations.
Preethi, A
core  

105 ALG6-CDG- congenital disorder of glycosylation with recognizable phenotype [PDF]

Abstracts, 2021
Marina Kokić Golub, Tamara Žigman, Danijela Petković Ramadža, Maja Jurin, Duška Tješić Drinković, Stanko Ćavar, Sanja Džida, Jelena Nikolić, Andrija Miculinić, Ernest Bilić, Ksenija Fumić, Ivo Barić   +11 more
openaire   +1 more source

Metabolische Epilepsien mit spezifischen Therapieoptionen: Diagnostischer Leitfaden [PDF]

, 2018
Zusammenfassung: Bei therapieresistenten Anfällen müssen, unabhängig vom jeweiligen Lebensalter, angeborene Stoffwechselerkrankungen erwogen werden.
Plecko, B.
core  

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

Orphanet J Rare Dis
Granjo P, Pascoal C, Gallego D, Francisco R, Jaeken J, Moors T, Edmondson AC, Kantautas KA, Serrano M, Videira PA, Dos Reis Ferreira V.   +10 more
europepmc   +1 more source

Congenital Disorders of Glycosylation (CDG): A Rapidly Expanding Group of Neurometabolic Disorders [PDF]

Neuropediatrics, 2000
Stephanie Grünewald, Gert Matthijs
openaire   +1 more source

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

Orphanet J Rare Dis
Poejo J, Gomes AI, Granjo P, Dos Reis Ferreira V.   +3 more
europepmc   +1 more source

Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG. [PDF]

Biomolecules
Al-Shahrani H, Szabó E, Staccone C, MacDonald G, Furuta Y, Schecter D, Edmondson AC, McRae A, Baker J, Morava E, Tinker RJ.   +10 more
europepmc   +1 more source