Danijela Petković Ramadža
University of Zagreb(HR)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Folate and B Vitamins Research, Mitochondrial Function and Pathology, Lysosomal Storage Disorders Research, Biochemical and Molecular Research
Most-Cited Works
- → The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation(2015)246 cited
- → The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype(2015)233 cited
- → Neonatal Screening in Europe Revisited: An ISNS Perspective on the Current State and Developments Since 2010(2021)225 cited
- → Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan(2012)209 cited
- → The natural history of classic galactosemia: lessons from the GalNet registry(2019)147 cited
- → NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood(2016)98 cited
- → Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency(2009)71 cited
- → Inborn Errors of Metabolism Associated With Autism Spectrum Disorders: Approaches to Intervention(2021)69 cited
- → Consensus recommendations for the diagnosis, treatment and follow‐up of inherited methylation disorders(2016)66 cited
- → Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome(2013)47 cited