Results 1 to 10 of about 7,146 (119)

Congenital disorders of glycosylation [PDF]

Annals of Translational Medicine, 2018
Congenital disorders of glycosylation are a genetically and clinically heterogeneous group of >130 diseases caused by defects in various steps along glycan modification pathways. The vast majority of these monogenic diseases are autosomal recessive and have multi-systemic manifestations, mainly growth failure, developmental delay, facial dysmorphisms ...
Irene J, Chang, Miao, He, Christina T, Lam   +2 more
openaire   +4 more sources

Congenital Disorders of Glycosylation: A Review [PDF]

Pediatric Research, 2002
Congenital disorders of glycosylation (CDGs) are a rapidly growing group of inherited disorders caused by defects in the synthesis and processing of the asparagine(ASN)-linked oligosaccharides of glycoproteins. The first CDG patients were described in 1980. Fifteen years later, a phosphomannomutase deficiency was found as the basis of the most frequent
Grunewald, Stephanie, Matthijs, Gert, Jaeken, Jaak   +2 more
openaire   +3 more sources

Epileptic spasms in congenital disorders of glycosylation [PDF]

Epileptic Disorders, 2017
AbstractAim. Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is
Pereira, AG, Bahi-Buisson, N, Barnerias, C, Boddaert, N, Nabbout, R, de Lonlay, P, Kaminska, A, Eisermann, M   +7 more
openaire   +3 more sources

Congenital disorders of glycosylation (CDG): Quo vadis?

European Journal of Medical Genetics, 2018
The survey summarizes in its first part the current status of knowledge on the Congenital Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and therapeutic strategies, and pathophysiology. It documents the clinical and basic research activities, and efforts to involve patients and their families.
Peanne, R., de Lonlay, P., Foulquier, F., Kornak, U., Lefeber, D.J., Lefeber, D.J., Lefeber, D.J., Lefeber, D.J., Morava, E., Perez, B., Seta, N., Thiel, C, van Schaftingen, E., Matthijs, G., Jaeken, J.   +14 more
openaire   +8 more sources

Diseases of glycosylation beyond classical congenital disorders of glycosylation [PDF]

Biochimica et Biophysica Acta (BBA) - General Subjects, 2012
Diseases of glycosylation are rare inherited disorders, which are often referred to as congenital disorders of glycosylation (CDG). Several types of CDG have been described in the last decades, encompassing defects of nucleotide-sugar biosynthesis, nucleotide-sugar transporters, glycosyltransferases and vesicular transport.
openaire   +2 more sources

Hyperkinetic movement disorders in congenital disorders of glycosylation

European Journal of Neurology, 2019
Background and purposeCongenital disorders of glycosylation (CDG) represent an increasing number of rare inherited metabolic diseases associated with abnormal glycan metabolism and disease onset in infancy or early childhood. Most CDG are multisystemic diseases mainly affecting the central nervous system. The aim of the current study was to investigate
Mostile G., Barone R., Nicoletti A., Rizzo R., Martinelli D., Sturiale L., Fiumara A., Jankovic J., Zappia M.   +8 more
openaire   +5 more sources

Congenital disorders of glycosylation syndromes [PDF]

Developmental Medicine & Child Neurology, 2002
openaire   +2 more sources

[Congenital disorders of glycosylation].

Postepy higieny i medycyny doswiadczalnej, 2004
Congenital disorders of glycosylation are group of hereditary diseases resulting in severe psychomotor retardation and multiorgan failure. So far eleven different defects were identified on the pathway of N-glycan biosynthesis. Seven of them belong to CDG type I and result in incomplete occupation of potential N-glycosylation sites.
openaire   +1 more source

Endocrine Implications of Congenital Disorders of Glycosylation

Journal of Clinical Research in Pediatric Endocrinology
Glycosylation, attachment of monosaccharides or glycans to select residues of proteins and lipids, is the most common post-translational modification. Defects among glycoprotein synthesis or modification pathways result in genetically and clinically heterogenous group of metabolic disorders, congenital disorders of glycosylation (CDGs) with an ...
Yağmur, Ünsal, Zeynep Alev, Özön
openaire   +2 more sources

Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases. [PDF]

Mol Genet Metab, 2023
Altassan R, Allers MM, De Graef D, Shah R, de Vries M, Larson A, Glamuzina E, Morava E.   +7 more
europepmc   +1 more source