Wanda Gradowska

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation

Stefan Kölker, Ángeles García Cazorla, Vassili Valayannopoulos et al. · Journal of Inherited Metabolic Disease · 2015 · 242 citations · Full text

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

Stefan Kölker, Vassili Valayannopoulos, Alberto Burlina et al. · Journal of Inherited Metabolic Disease · 2015 · 229 citations · Full text

Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria

Martijn Kranendijk, Eduard A. Struys, K. Michael Gibson et al. · Human Mutation · 2009 · 73 citations

Urology, Genetic Disorder, Medicine +13

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 · 68 citations

Molecular Findings, Polish Patients, Biochemistry +2

N-acetylaspartylglutamate in Canavan disease: an adverse effector?

Alessandro P. Burlina, V. Ferrari, P. Divry et al. · European Journal of Pediatrics · 1999 · 45 citations · Full text

Autoimmune Disease, Vasculitis, Glycobiology +5