Anna Wedell

AGC1 Deficiency Associated with Global Cerebral Hypomyelination

Rolf Wibom, Francesco M. Lasorsa, Virpi Töhönen et al. · New England Journal of Medicine · 2009 · 174 citations · Full text

Medicine, Neurology, Neuroscience +17

Genotyping Is a Valuable Diagnostic Complement to Neonatal Screening for Congenital Adrenal Hyperplasia due to Steroid 21-Hydroxylase Deficiency¹

Anna Nordenström, Astrid Thilén, Lars Hagenfeldt et al. · The Journal of Clinical Endocrinology & Metabolism · 1999 · 99 citations · Full text

Life Sciences, Endocrinology, Genetics +17

Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency

Anna Wedell, Barbro Stengler, Holger Luthman · Human Genetics · 1994 · 60 citations

Life Sciences, Genetics, Molecular Genetics +14

The ketogenic diet compensates for<scp>AGC</scp>1 deficiency and improves myelination

Maria Dahlin, Daniel Martín Muñoz, Zandra Hedlund et al. · Epilepsia · 2015 · 53 citations · Full text

Life Sciences, Neurobiology, Neuroscience +17

Epilepsy syndromes, etiologies, and the use of next‐generation sequencing in epilepsy presenting in the first 2 years of life: A population‐based study

Tommy Stödberg, Torbjörn Tomson, Michela Barbaro et al. · Epilepsia · 2020 · 48 citations · Full text

Medicine, Genetics, Pediatrics +17