E Małunowicz

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency - management in adults.

Urszula Ambroziak, Tomasz Bednarczuk, Maria Ginalska-Malinowska et al. · PubMed · 2010 · 39 citations

The diagnosis of nonclassic congenital adrenal hyperplasia due to 21‐hydroxylase deficiency, based on serum basal or post‐<scp>ACTH</scp> stimulation 17‐hydroxyprogesterone, can lead to false‐positive diagnosis

Urszula Ambroziak, Anna Kępczyńska‐Nyk, Alina Kuryłowicz et al. · Clinical Endocrinology · 2015 · 32 citations

<i>DHCR7</i> mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome

Elżbieta Ciara, MJM Nowaczyk, Martina Witsch‐Baumgartner et al. · Clinical Genetics · 2004 · 29 citations

Mild Smith-Lemli-Opitz syndrome: Further delineation of 5 Polish cases and review of the literature

Aleksandra Jezela‐Stanek, Elżbieta Ciara, E Małunowicz et al. · European Journal of Medical Genetics · 2007 · 25 citations

Polish Cases, Further Delineation, Pathology +1

11β-Hydroxysteroid Dehydrogenase Type 1 Deficiency (‘Apparent Cortisone Reductase Deficiency’) in a 6-Year-Old Boy

E Małunowicz, T E Romer, Maria D. Urban et al. · Hormone Research in Paediatrics · 2003 · 24 citations