Agnieszka Jurecka

Thyroid hormone resistance syndrome due to mutations in the thyroid hormone receptor α gene (<i>THRA</i>)

Anna Tylki‐Szymańska, Rocío Acuña‐Hidalgo, Małgorzata Krajewska‐Walasek et al. · Journal of Medical Genetics · 2015 · 101 citations · Full text

Medicine, Endocrinology, Genetics +15

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency

Agnieszka Jurecka, Marie Zikánová, Anna Tylki‐Szymańska et al. · Molecular Genetics and Metabolism · 2008 · 71 citations

Life Sciences, Biochemistry, Molecular Biology +9

Enzyme replacement therapy for mucopolysaccharidosis II from 3 months of age: a 3‐year follow‐up

A Szymanska, Agnieszka Jurecka, Zbigniew Żuber et al. · Acta Paediatrica · 2011 · 70 citations

Medicine, Pediatrics, Molecular Pathology +12

Efficacy of recombinant human α‐<scp>L</scp>‐iduronidase (laronidase) on restricted range of motion of upper extremities in mucopolysaccharidosis type I patients

Anna Tylki‐Szymańska, Jolanta Marucha, Agnieszka Jurecka et al. · Journal of Inherited Metabolic Disease · 2010 · 59 citations

Medicine, Neurology, Neuromuscular Disorders +2

Prevalence rates of mucopolysaccharidoses in Poland

Agnieszka Jurecka, Agnieszka Ługowska, Barbara Czartoryska et al. · Journal of Applied Genetics · 2014 · 50 citations · Full text

Life Sciences, Pathology, Genetic Epidemiology +7