Cargando…
Chanarin-Dorfman Syndrome with Multi-System Involvement in Two Siblings
Chanarin-Dorfman syndrome (CDS) is a very rare autosomal recessive inherited neutral lipid metabolism disorder associated with congenital ichthyosis and multi-system involvement. Observation of lipid vacuoles in neutrophils (Jordan’s anomaly) in peripheral blood smears in patients with ichthyosiform...
Autores principales: | Arslansoyu Çamlar, Seçil, Gençpınar, Pınar, Makay, Balahan, Yüzbaşıoğlu, Ayşe, Arslan, Nur, Emre Dökmeci, Serap, Anal, Özden, Köse, Galip |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Galenos Publishing
2013
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3781670/ https://www.ncbi.nlm.nih.gov/pubmed/24385758 http://dx.doi.org/10.4274/tjh.93798 |
Ejemplares similares
-
Chanarin-Dorfman syndrome treatment with acitretin
por: AlNeyadi, Reem, et al.
Publicado: (2022) -
Chanarin-Dorfman Syndrome with Absent Jordan's Anomaly
por: Arora, Sandeep, et al.
Publicado: (2017) -
A novel ABHD5 mutation in two Chanarin Dorfman siblings with severe and heterogeneous clinical phenotype
por: Elsayed, Solaf Mohamed, et al.
Publicado: (2022) -
An Adolescent with Chanarin-Dorfman Syndrome Presenting with Ichthyosis and Hepatic Steatosis
por: Habash, Nawras, et al.
Publicado: (2021) -
Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder
por: Mangukiya, Nisarg P, et al.
Publicado: (2023)