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Journal of Inherited Metabolic Disease, ISSN 0141-8955, 07/2017, Volume 40, Issue 4, pp. 621 - 625
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 7/2017, Volume 40, Issue 4, pp. 621 - 625
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10545-017-0068-9 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 8/2011, Volume 34, Issue 4, pp. 853 - 858
Congenital disorders of glycosylation (CDG) is a booming class of metabolic diseases. Its number has increased nearly fourfold (to 45) since 2003, the year of... 
Biochemistry, general | Human Genetics | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 11/2019, Volume 27, Issue 11, pp. 1757 - 1760
Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for mutations in PGM3 in diagnostic, predictive and... 
MUTATIONS | IGE | BIOCHEMISTRY & MOLECULAR BIOLOGY | IMMUNODEFICIENCY | DEFICIENCY | GENETICS & HEREDITY | Risk assessment | Glycosylation
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2012, Volume 158A, Issue 11, pp. 2974 - 2975
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2018, Volume 26, Issue 8, pp. 1230 - 1233
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 02/2014, Volume 370, Issue 6, pp. 533 - 542
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 5/2018, Volume 41, Issue 3, pp. 541 - 553
Journal Article