Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2007 1
2008 2
2011 1
2014 2
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

6 results

Results by year

Filters applied: . Clear all
Page 1
Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.
Conte F, Sam JE, Lefeber DJ, Passier R. Conte F, et al. Int J Mol Sci. 2023 May 11;24(10):8632. doi: 10.3390/ijms24108632. Int J Mol Sci. 2023. PMID: 37239976 Free PMC article. Review.
Heart failure (HF) is a progressive chronic disease that remains a primary cause of death worldwide, affecting over 64 million patients. HF can be caused by cardiomyopathies and congenital cardiac defects with monogenic etiology. The number of genes and monogenic disord
Heart failure (HF) is a progressive chronic disease that remains a primary cause of death worldwide, affecting over 64 million patients. HF …
Metabolic cutis laxa syndromes.
Mohamed M, Kouwenberg D, Gardeitchik T, Kornak U, Wevers RA, Morava E. Mohamed M, et al. J Inherit Metab Dis. 2011 Aug;34(4):907-16. doi: 10.1007/s10545-011-9305-9. Epub 2011 Mar 23. J Inherit Metab Dis. 2011. PMID: 21431621 Free PMC article. Review.
Cutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis of elastic fibers and other proteins of the extracellular matrix. ...Cutis laxa has recently been found in patients with abnormal glycosylation
Cutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis of ela …
Congenital disorders of glycosylation with emphasis on cerebellar involvement.
Barone R, Fiumara A, Jaeken J. Barone R, et al. Semin Neurol. 2014 Jul;34(3):357-66. doi: 10.1055/s-0034-1387197. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192513 Review.
Congenital disorders of glycosylation (CDG) are genetic diseases due to defective glycosylation of proteins and lipids. ...Screening methods are limited to serum transferrin isoelectrofocusing (for N-glycosylation disorders with si
Congenital disorders of glycosylation (CDG) are genetic diseases due to defective glycosylation of protei
Role of the conserved oligomeric Golgi (COG) complex in protein glycosylation.
Smith RD, Lupashin VV. Smith RD, et al. Carbohydr Res. 2008 Aug 11;343(12):2024-31. doi: 10.1016/j.carres.2008.01.034. Epub 2008 Feb 2. Carbohydr Res. 2008. PMID: 18353293 Free PMC article. Review.
The Golgi apparatus is a central hub for both protein and lipid trafficking/sorting and is also a major site for glycosylation in the cell. This organelle employs a cohort of peripheral membrane proteins and protein complexes to keep its structural and functional organizat …
The Golgi apparatus is a central hub for both protein and lipid trafficking/sorting and is also a major site for glycosylation in the …
Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation.
Zeevaert R, Foulquier F, Jaeken J, Matthijs G. Zeevaert R, et al. Mol Genet Metab. 2008 Jan;93(1):15-21. doi: 10.1016/j.ymgme.2007.08.118. Epub 2007 Sep 29. Mol Genet Metab. 2008. PMID: 17904886 Review.
This compartmentalization is achieved by a balance between anterograde and retrograde vesicular trafficking. If the balance is disturbed, the glycosylation machinery is mislocalized, which can cause Congenital Disorders of Glycosylation type II …
This compartmentalization is achieved by a balance between anterograde and retrograde vesicular trafficking. If the balance is disturbed, th …
Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation.
Kouwenberg D, Gardeitchik T, Mohamed M, Lefeber DJ, Morava E. Kouwenberg D, et al. Pediatr Dermatol. 2014 Jan-Feb;31(1):e1-5. doi: 10.1111/pde.12233. Pediatr Dermatol. 2014. PMID: 24555185 Review.
Glycosylation is the posttranslational coupling of sugar chains to proteins or lipids. ...Mutations in the glycosylation pathway lead to a phenotypically heterogeneous group of metabolic disorders, the congenital disorders of glycosyla
Glycosylation is the posttranslational coupling of sugar chains to proteins or lipids. ...Mutations in the glycosylation pathw