Complex glycerol kinase deficiency – long-term follow-up of two patients

Complex glycerol kinase deficiency (CGKD) is a rare genetic syndrome which belongs to the group of contiguous gene syndromes and is caused by microdeletion of genes located in Xp21. Patients with CGKD present with features characteristic for adrenal hypoplasia, glycerol kinase deficiency, Duchenne m...

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Detalles Bibliográficos
Autores principales: Wikiera, Beata, Jakubiak, Aleksandra, Łaczmanska, Izabela, Noczyńska, Anna, Śmigiel, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2021
Materias:
Case report | Opis przypadku
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10228193/
https://www.ncbi.nlm.nih.gov/pubmed/34743506
http://dx.doi.org/10.5114/pedm.2021.109681

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10228193/
https://www.ncbi.nlm.nih.gov/pubmed/34743506
http://dx.doi.org/10.5114/pedm.2021.109681

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