Rare disorders, big challenges: Special issue on congenital disorders of glycosylation
Source: Molecular Genetics and Metabolism
Progressive Loss of Cerebral Structures in ALG11-Related Congenital Disorder Glycosylation
Source: Pediatric Neurology
Case Report of Friedreich's Ataxia and ALG1-Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia
Source: American Journal of Medical Genetics, Part A
Congenital disorders of glycosylation type 1A associated with cerebral hemorrhagic infarction: illustrative case
Source: Journal of Neurosurgery: Case Lessons
Aldolase B Deficient Mice Are Characterized by Hepatic Nucleotide Sugar Abnormalities
Source: Journal of Inherited Metabolic Disease
For Patient Families
To support patients and caregivers, Elsevier Health is making the latest research on these rare disorders available upon request at no cost.
Learn More
Note:
User acknowledges that these materials are provided for use at no charge as part of Elsevier’s efforts to support healthcare providers and patients. The information contained within the website is intended as a supplement to, and not a substitute for, the knowledge, expertise, skill and judgment of healthcare professionals involved in patient care. The content within this page may not be re-used, modified or re-distributed without prior written permission.
Cookies are used by this site. To decline or learn more, visit our cookie notice.
Copyright © 2024 Elsevier, its licensors, and contributors. All rights are reserved, including those for text and data mining, AI training, and similar technologies.
