List of works - Barbara Plecko

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

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

scientific article

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

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

scientific article

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

scientific article

Mutation analysis in patients with N-acetylglutamate synthase deficiency

scientific article published on June 1, 2003

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

scientific article

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

scientific article published on 19 June 2013

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

scientific article published on 08 April 2014

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

scientific article published on February 11, 2010

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

scientific article

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

Positive Outcome following Early Diagnosis and Treatment of Pyridoxal-5′-Phosphate Oxidase Deficiency: A Case Report

scientific article published on September 25, 2013

Treatable newborn and infant seizures due to inborn errors of metabolism

scientific article published on September 1, 2015

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

scientific article

Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases

scientific article published on October 16, 2017

Sensory stimulus‐sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency

scientific article published on March 1, 2014

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

article published in 2015

Peter-Emil-Becker-Price 2013

scientific article published on March 10, 2014

Honorary Award of the German-Speaking Child Neurology Society — Gesellschaft für Neuropädiatrie — 2015

scientific article published on July 17, 2015

Peter-Emil-Becker-Price 2012

scientific article published on February 27, 2013

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

scientific article published on 17 July 2020

List of works by Barbara Plecko

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

Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

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

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

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

Mutation analysis in patients with N-acetylglutamate synthase deficiency

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

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

Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

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

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

Positive Outcome following Early Diagnosis and Treatment of Pyridoxal-5′-Phosphate Oxidase Deficiency: A Case Report

Treatable newborn and infant seizures due to inborn errors of metabolism

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

Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases

Sensory stimulus‐sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency

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

Peter-Emil-Becker-Price 2013

Honorary Award of the German-Speaking Child Neurology Society — Gesellschaft für Neuropädiatrie — 2015

Peter-Emil-Becker-Price 2012

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