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List of works by Barbara Plecko

Childhood-onset epileptic encephalopathy due to FGF12 exon 1-4 tandem duplication

scientific article published on 17 July 2020

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency

scientific article

Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency.

scientific article

Cross-sectional observational study of 208 patients with non-classical urea cycle disorders

scientific article published on 19 June 2013

Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase.

scientific article

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

scientific article

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase

scientific article published on 23 May 2008

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

scientific article

Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

article published in 2015

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

scientific article

Mutation analysis in patients with N-acetylglutamate synthase deficiency ⬇️

scientific article published on June 1, 2003

Peter-Emil-Becker-Price 2012 ⬇️

scientific article published on February 27, 2013

Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening

scientific article published on 25 December 2013

Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity? ⬇️

scientific article published on June 27, 2011

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