P868: Prenatal findings of mevalonate kinase deficiency in an MVK I268T homozygous fetus
Saved in:
| Main Authors: | Marek Svoboda, Devin Applebee, Nidhi Shah |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2025-01-01
|
| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774425012762 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Tocilizumab for the Treatment of Mevalonate Kinase Deficiency
by: Nadia K. Rafiq, et al.
Published: (2018-01-01) -
Mevalonate kinase deficiency syndrome: Single center experience
by: A. L. Kozlova, et al.
Published: (2021-07-01) -
Mevalonate kinase deficiency: genetic and clinical characteristics of a Chinese pediatric cohort
by: Chenchen Guan, et al.
Published: (2025-07-01) -
PERIODIC FEVER SYNDROME (MEVALONATE KINASE DEFICIENCY, HYPERIMMUNOGLOBULINEMIA D SYNDROME) IN CHILDREN
by: Yu. S. Patrusheva, et al.
Published: (2012-03-01) -
A Distinct Phenotype of Mevalonic Acidemia with Absence of Pathogenic Mutations of Mevalonate Kinase Gene
by: Imad Dweikat, et al.
Published: (2016-03-01)