Results 101 to 110 of about 11,049 (200)

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

ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

Molecular Genetics & Genomic Medicine, 2020
Background Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the N‐glycan precursor formation and its transfer to proteins resulting in hypoglycosylation of multiple
María Eugenia de laMorena‐Barrio, María Sabater, Belén de laMorena‐Barrio, Renee L. Ruhaak, Antonia Miñano, José Padilla, Mara Toderici, Vanessa Roldán, Juan R. Gimeno, Vicente Vicente, Javier Corral   +10 more
doaj   +1 more source

Congenital disorders of glycosylation. Part I. Defects of protein N-glycosylation [PDF]

, 2013
Glycosylation is the most common chemical process of protein modification and occurs in every living cell. Disturbances of this process may be either congenital or acquired. Congenital disorders of glycosylation (CDG) are a rapidly growing disease family,
Chrostek, Lech, Gruszewska, Ewa, Cylwik, Bogdan, Naklicki, Marcin   +3 more
core  

Identifying Congenital Disorders of Glycosylation [PDF]

, 2020
Congenital disorders of glycosylation (CDG) constitute a diverse group of errors involved with protein glycosylation, a post-transcriptional modification that is essential for life.
Gorrepati, Krishna
core  

Neurology of inherited glycosylation disorders [PDF]

, 2012
Congenital disorders of glycosylation comprise most of the nearly 70 genetic disorders known to be caused by impaired synthesis of glycoconjugates. The effects are expressed in most organ systems, and most involve the nervous system.
Freeze, Hudson H., Ng, Bobby G., Patterson, Marc C., Eklund, Erik, Lund University., Eklund, Erik,   +5 more
core   +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
doaj   +1 more source

Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders [PDF]

, 2018
Congenital disorders of glycosylation (CDG) and mitochondrial disorders have overlapping clinical features, including central nervous system, cardiac, gastrointestinal, hepatic, muscular, endocrine, and psychiatric disease.
Jeroen Wyckmans, Morava, E., Gardeitchik, T., Wyckmans, J., Thatjana Gardeitchik, Eva Morava   +5 more
core   +1 more source

LCMS-based Validation of Glycosylation Variants in Transferrin – A Diagnostic Approach for Congenital Disorders of Glycosylation [PDF]

Congenital disorders of glycosylation (CDG) are rare genetic diseases caused by defects in the glycosylation pathways. Early and accurate diagnosis of congenital disorders of glycosylation (CDG) is crucial for timely initiating appropriate therapies ...
Hima Bindu Allareddy, Dr. Madhurarekha Ch, Kalpana D,Deekshitha Ch,Prof. Manjula Bhanoori*
core   +2 more sources