List of works by Danijela Petković Ramadža

A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.

scientific article published on 8 March 2018

Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome

scientific article

Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature

scientific article

Metabolic follow-up of a Croatian patient with gyrate atrophy and a new mutation in the gene: a case report

article

Mitochondrial myopathy associated with a novel 5522G>A mutation in the mitochondrial tRNA(Trp) gene

scientific article published on 12 December 2012

Molecular basis and clinical presentation of classic galactosemia in a Croatian population

scientific article published on 18 December 2017

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

scientific article

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

scientific article published on 15 April 2015

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