Results 41 to 50 of about 9,667 (152)

GLYCOSYLATION DISORDER SYNDROME TYPE 1b: DIAGNOSTICS AND TREATMENT

Педиатрическая фармакология, 2008
The article highlights the medical case of a rare hereditary disease — glycosylation disorder syndrome type 1b, unique for our country. This syndrome is referred to the heterogeneous group of the congenital diseases characterized by the disorder of ...
Yu.S. Akoev, A.V. Migali, N.V. Zhurkova, O.B. Kondakova, E.A. Roslavtseva, A.R. Pinaeva, V.A. Skvortsova, I.I. Migali   +7 more
doaj   +2 more sources

A step closer in defining glycosylphosphatidylinositol anchored proteins role in health and glycosylation disorders

Molecular Genetics and Metabolism Reports, 2018
Glycosylphosphatidylinositol anchored proteins (GPI-APs) represent a class of soluble proteins attached to the external leaflet of the plasma membrane by a post-translation modification, the GPI anchor.
Emanuela Manea
doaj   +1 more source

AAV9-based PMM2 gene replacement augments PMM2 expression and improves glycosylation in primary fibroblasts of patients with phosphomannomutase 2 deficiency (PMM2-CDG)

Molecular Genetics and Metabolism Reports
Inherited deficiency of phosphomannomutase 2 (PMM2) (aka PMM2-CDG) is the most common congenital disorders of glycosylation (CDG) and has no cure.
M. Zhong, B. Balakrishnan, A.J. Guo, K. Lai   +3 more
doaj   +1 more source

L-Fucose treatment of FUT8-CDG

Molecular Genetics and Metabolism Reports, 2020
FUT8-CDG is a severe multisystem disorder caused by mutations in FUT8, encoding the α-1,6-fucosyltransferase. We report on dizygotic twins with FUT8-CDG presenting with dysmorphisms, failure to thrive, and respiratory abnormalities.
Julien H. Park, Janine Reunert, Miao He, Robert G. Mealer, Maxence Noel, Yoshinao Wada, Marianne Grüneberg, Judit Horváth, Richard D. Cummings, Oliver Schwartz, Thorsten Marquardt   +10 more
doaj   +1 more source

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

Pediatric Anesthetic Management of a Patient With an ALG‐13 Gene Mutation, a Rare Congenital Disorder of Glycosylation

Clinical Case Reports
Congenital disorders of glycosylation are rare and present a challenge in management due to interactions with intraoperative medications. We present safe and successful anesthetic management of a pediatric patient with an ALG‐13 gene mutation.
Esha Thakkar, John A. Iasiello, Sunny R. Cai, Adrienne Hutton   +3 more
doaj   +1 more source

High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect

eLife, 2018
Proper brain development relies highly on protein N-glycosylation to sustain neuronal migration, axon guidance and synaptic physiology. Impairing the N-glycosylation pathway at early steps produces broad neurological symptoms identified in congenital ...
Daniel Medina-Cano, Ekin Ucuncu, Lam Son Nguyen, Michael Nicouleau, Joanna Lipecka, Jean-Charles Bizot, Christian Thiel, François Foulquier, Nathalie Lefort, Catherine Faivre-Sarrailh, Laurence Colleaux, Ida Chiara Guerrera, Vincent Cantagrel   +12 more
doaj   +1 more source

The efficacy of high pressure liquid chromatography (HPLC) in detecting congenital glycosylation disorders (CDG)

Türk Biyokimya Dergisi
Congenital disorders of glycosylation (CDG) are a family of rare inherited metabolic disorders. This study aimed to examine the carbohydrate-deficient transferrin (CDT) screening results of 1,328 patients with suspected CDG by using transferrin-high ...
Ozgen Ozge, Güdek Kılıç Fatma, Gedikbaşı Asuman, Balcı Mehmet Cihan, Karaca Meryem, Durmuş Aslı, Tutu Belkıs, Körbeyli Hüseyin Kutay, Atalar Fatmahan, Gökçay Gülden Fatma   +9 more
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