Maria Giżewska

The Genetic Landscape and Epidemiology of Phenylketonuria

Alicia Hillert, Yair Anikster, Amaya Bélanger-Quintana et al. · The American Journal of Human Genetics · 2020 · 380 citations · Full text

Life Sciences, Genetics, Molecular Genetics +8

Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

Louise E Docherty, Faisal I. Rezwan, Rebecca Poole et al. · Nature Communications · 2015 · 204 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Maternal variants in <i>NLRP</i> and other maternal effect proteins are associated with multilocus imprinting disturbance in offspring

Matthias Begemann, Faisal I. Rezwan, Jasmin Beygo et al. · Journal of Medical Genetics · 2018 · 183 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Quality of life in noncompliant adults with phenylketonuria after resumption of the diet

Mirosław Bik-Multanowski, Bożena Didycz, Renata Mozrzymas et al. · Journal of Inherited Metabolic Disease · 2008 · 95 citations

Medicine, Endocrinology, Human Nutrition +1

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

Maria Giżewska, Anita MacDonald, Amaya Bélanger‐Quintana et al. · European Journal of Pediatrics · 2015 · 74 citations · Full text

Medicine, Pediatrics, Pharmacotherapy +12