Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

[Carbohydrate-deficient glycoprotein syndrome]

J Jaeken1, H Carchon

  • 1Centre de maladies métaboliques, hôpital universitaire Gasthuisberg, Louvath, Belgique.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie
|January 1, 1996
PubMed
Summary

No abstract available in PubMed .

Related Experiment Videos

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

CDG due to Defective Membrane Transporters: Update.

Journal of inherited metabolic disease·2026
Same author

Deletion of <i>C2orf34</i>, <i>PREPL</i> and <i>SLC3A1</i> causes atypical hypotonia-cystinuria syndrome.

BMJ case reports·2025
Same author

From Burden to Empowerment. Patient-Reported Influencing Factors on Participation in Shared Decision Making in Oncology, a Meta-Study.

Psycho-oncology·2025
Same author

Shared challenges and opportunities: Uncovering common ground in patient participation across different healthcare settings and patient groups. A qualitative meta-summary on patient-reported barriers and facilitators to participation in shared decision-making.

Patient education and counseling·2024
Same author

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals.

Orphanet journal of rare diseases·2022
Same author

Assessing the effects of PMM2 variants on protein stability.

Molecular genetics and metabolism·2021