Cargando…
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review
Congenital disorders of glycosylation (CDGs) are a heterogeneous group of disorders with impaired glycosylation of proteins and lipids. These conditions have multisystemic clinical manifestations, resulting in gradually progressive complications including skeletal involvement and reduced bone minera...
Autores principales: | Lipiński, Patryk, Stępień, Karolina M., Ciara, Elżbieta, Tylki-Szymańska, Anna, Jezela-Stanek, Aleksandra |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8391432/ https://www.ncbi.nlm.nih.gov/pubmed/34441372 http://dx.doi.org/10.3390/diagnostics11081438 |
Ejemplares similares
-
Editorial: Inherited Protein Glycosylation Defects in Humans
por: Jezela-Stanek, Aleksandra, et al.
Publicado: (2022) -
Clinical, biochemical and molecular phenotype of congenital disorders of glycosylation: long-term follow-up
por: Bogdańska, Anna, et al.
Publicado: (2021) -
Congenital Disorders of Glycosylation from a Neurological Perspective
por: Paprocka, Justyna, et al.
Publicado: (2021) -
Congenital Disorders of Glycosylation: What Clinicians Need to Know?
por: Lipiński, Patryk, et al.
Publicado: (2021) -
Liver Involvement in Congenital Disorders of Glycosylation and Deglycosylation
por: Lipiński, Patryk, et al.
Publicado: (2021)