Joanna Taybert

Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome

Christiaan P. Sentner, Irene J. Hoogeveen, David A. Weinstein et al. · Journal of Inherited Metabolic Disease · 2016 · 165 citations · Full text

High frequency of missense mutations in glycogen storage disease type VI

Nicholas Beauchamp, Joanna Taybert, M. P. Champion et al. · Journal of Inherited Metabolic Disease · 2007 · 56 citations · Full text

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure

Ewa Pronicka, Anna Węglewska-Jurkiewicz, Joanna Taybert et al. · Journal of Applied Genetics · 2010 · 52 citations · Full text

Transaldolase deficiency in two new patients with a relative mild phenotype

Anna Tylki‐Szymańska, Teresa Joanna Stradomska, Mirjam M. C. Wamelink et al. · Molecular Genetics and Metabolism · 2009 · 37 citations

Urology, New Patients, Inherited Metabolic Disease +5

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency

Maciej Pronicki, Paweł Kowalski, Dorota Piekutowska‐Abramczuk et al. · European Journal of Paediatric Neurology · 2009 · 33 citations

Rare Diseases, Genetic Disorder, Medicine +8