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  3. Innovative Journal of Pediatrics
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  5. A Case of Congenital Disorder of Glycosylation Ia Presented with Recurrent Pericardial Effusion
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Innovative Journal of Pediatrics

The Scientific Journal of Growth & Development Research Center

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Scopus by Title (Ref)


1. Paediatric cardiac tamponade requiring pericardiocentesis: aetiology and age distribution of 252 patients in a tertiary single-centre cohort

- Temel M.T. , et al.

2. Clinical severity and cardiac phenotype in phosphomannomutase 2-congenital disorders of glycosylation : Insights into genetics and management recommendations

- Holubova V. , et al.

3. 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.

4. Genotypes and estimated prevalence of phosphomannomutase 2 deficiency in Turkey differ significantly from those in Europe

- Yıldız Y. , et al.

5. International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up

- Altassan R. , et al.

6. Recognizable phenotypes in CDG

- Ferreira C.R. , et al.

7. Renal involvement in PMM2-CDG, a mini-review

- Altassan R. , et al.

8. Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature

- Marques-da-Silva D. , et al.

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