Results 111 to 120 of about 9,667 (152)

Neurologic Course of Congenital Disorders of Glycosylation

Journal Of Child Neurology, 2001
Congenital disorders of glycosylation, formerly called carbohydrate-deficient glycoprotein syndrome, may present in infancy with slowly progressive neurologic deficits including cognitive impairment, ataxia, pigmentary retinal degeneration, and neuropathy.
P L, Pearl, D, Krasnewich
openaire   +2 more sources

Neurological Consequences of Congenital Disorders of Glycosylation

2022
The chapter is devoted to neurological aspects of congenital disorders of glycosylation (CDG). At the beginning, the various types of CDG with neurological presentation of symptoms are summarized. Then, the occurrence of various neurological constellation of abnormalities (for example: epilepsy, brain anomalies on neuroimaging, ataxia, stroke-like ...
openaire   +2 more sources

Congenital Disorders of Glycosylation, Analytical Aspects

2014
Molecular diagnosis of congenital disorders of glycosylation (CDG) has long relied on electrophoresis (isoelectric focusing) performed to detect the absence of N-acetylneuraminic acid, a marker saccharide of mature oligosaccharides, in serotransferrin.
openaire   +1 more source

Biochemical diagnosis of congenital disorders of glycosylation

Congenital disorders of glycosylation (CDG) are one of the fastest growing groups of inborn errors of metabolism, comprising over 160 described diseases to this day. CDG are characterized by a dysfunctional glycosylation process, with molecular defects localized in the cytosol, the endoplasmic reticulum, or the Golgi apparatus.
Raynor, Alexandre, Haouari, Walid, Lebredonchel, Elodie, Foulquier, François, Fenaille, François, Bruneel, Arnaud   +5 more
openaire   +3 more sources

Integrative oncology: Addressing the global challenges of cancer prevention and treatment

Ca-A Cancer Journal for Clinicians, 2022
Jun J Mao,, Msce, Lorenzo Cohen, Karen M Mustian   +2 more
exaly  

Diversity of congenital disorders of glycosylation

The Lancet, 2001
J, Leonard, S, Grünewald, P, Clayton
openaire   +2 more sources

Congenital Disorders of Glycosylation

2021
Paulina Sosicka, Bobby G. Ng, Hudson H. Freeze   +2 more
openaire   +1 more source

Congenital Disorder of Glycosylation

2023
Sara Momtazmanesh, Nima Rezaei
openaire   +1 more source

Obesity and adverse breast cancer risk and outcome: Mechanistic insights and strategies for intervention

Ca-A Cancer Journal for Clinicians, 2017
Cynthia Morata-Tarifa, Joyce M Slingerland   +1 more
exaly  

Multidisciplinary standards of care and recent progress in pancreatic ductal adenocarcinoma

Ca-A Cancer Journal for Clinicians, 2020
Aaron J Grossberg, William L Hwang, Anirban Maitra   +2 more
exaly