Innovative Journal of Pediatrics
The Scientific Journal of Growth & Development Research Center
Scopus by Title (Ref)
1. Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations
- Holubova V. , et al.
2. Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report
- Slaba K. , et al.
3. Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe
- Yıldız Y. , et al.
4. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up
- Altassan R. , et al.
5. Recognizable phenotypes in CDG
- Ferreira C.R. , et al.
6. Renal involvement in PMM2-CDG, a mini-review
- Altassan R. , et al.
7. Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature
- Marques-da-Silva D. , et al.