Chike Bellarmine Item
Medical University of Vienna(AT)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Muscle metabolism and nutrition, Mitochondrial Function and Pathology, Folate and B Vitamins Research, Neonatal Health and Biochemistry
Most-Cited Works
- → Arginine:Glycine Amidinotransferase Deficiency: The Third Inborn Error of Creatine Metabolism in Humans(2001)251 cited
- → GAMT deficiency(2006)157 cited
- → Creatine depletion in a new case with AGAT deficiency: clinical and genetic study in a large pedigree(2002)102 cited
- → The National Austrian Newborn Screening Program – Eight years experience with mass spectrometry. Past, present, and future goals(2010)68 cited
- → Simplified Newborn Screening Protocol for Lysosomal Storage Disorders(2011)64 cited
- → Molecular heterogeneity of classical and duarte galactosemia: Mutation analysis by denaturing gradient gel electrophoresis(1997)52 cited
- → Characterization of seven novel mutations in seven patients with GAMT deficiency(2004)51 cited
- → Circulating microRNAs 34a, 122, and 192 are linked to obesity-associated inflammation and metabolic disease in pediatric patients(2021)49 cited
- → Evaluation of renal function in 60 long-term survivors of bone marrow transplantation.(1995)46 cited
- → DNA methylation pattern ofCALCAin preterm neonates with bacterial sepsis as a putative epigenetic biomarker(2013)41 cited