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Congenital Disorders of Glycosylation: A Multi-genetic Disease Family with Multiple Subcellular Locations
This review discusses a selection of congenital disorders of glycosylation that show peculiar features, such as an unusual presentation, different phenotypes, a novel biochemical/genetic mechanism, a relatively high frequency or a relatively efficient treatment.
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Sciendo
2020
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518092/ https://www.ncbi.nlm.nih.gov/pubmed/33554500 http://dx.doi.org/10.34763/jmotherandchild.20202402si.2005.000004 |
| _version_ | 1784584149897576448 |
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| author | Jaeken, Jaak |
| author_facet | Jaeken, Jaak |
| author_sort | Jaeken, Jaak |
| collection | PubMed |
| description | This review discusses a selection of congenital disorders of glycosylation that show peculiar features, such as an unusual presentation, different phenotypes, a novel biochemical/genetic mechanism, a relatively high frequency or a relatively efficient treatment. |
| format | Online Article Text |
| id | pubmed-8518092 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2020 |
| publisher | Sciendo |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-85180922021-11-23 Congenital Disorders of Glycosylation: A Multi-genetic Disease Family with Multiple Subcellular Locations Jaeken, Jaak J Mother Child Review Paper This review discusses a selection of congenital disorders of glycosylation that show peculiar features, such as an unusual presentation, different phenotypes, a novel biochemical/genetic mechanism, a relatively high frequency or a relatively efficient treatment. Sciendo 2020-11-10 /pmc/articles/PMC8518092/ /pubmed/33554500 http://dx.doi.org/10.34763/jmotherandchild.20202402si.2005.000004 Text en © 2020 Jaak Jaeken, published by Sciendo https://creativecommons.org/licenses/by/4.0/This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. |
| spellingShingle | Review Paper Jaeken, Jaak Congenital Disorders of Glycosylation: A Multi-genetic Disease Family with Multiple Subcellular Locations |
| title | Congenital Disorders of Glycosylation: A Multi-genetic Disease Family with Multiple Subcellular Locations |
| title_full | Congenital Disorders of Glycosylation: A Multi-genetic Disease Family with Multiple Subcellular Locations |
| title_fullStr | Congenital Disorders of Glycosylation: A Multi-genetic Disease Family with Multiple Subcellular Locations |
| title_full_unstemmed | Congenital Disorders of Glycosylation: A Multi-genetic Disease Family with Multiple Subcellular Locations |
| title_short | Congenital Disorders of Glycosylation: A Multi-genetic Disease Family with Multiple Subcellular Locations |
| title_sort | congenital disorders of glycosylation: a multi-genetic disease family with multiple subcellular locations |
| topic | Review Paper |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8518092/ https://www.ncbi.nlm.nih.gov/pubmed/33554500 http://dx.doi.org/10.34763/jmotherandchild.20202402si.2005.000004 |
| work_keys_str_mv | AT jaekenjaak congenitaldisordersofglycosylationamultigeneticdiseasefamilywithmultiplesubcellularlocations |