Stephanie Grünewald
Great Ormond Street Hospital(GB)University College London(GB)
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Glycosylation and Glycoproteins Research, Lysosomal Storage Disorders Research, Genomics and Rare Diseases, Folate and B Vitamins Research
Most-Cited Works
- → Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia(2014)703 cited
- → Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder(2010)411 cited
- → Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision(2021)258 cited
- → The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation(2015)246 cited
- → The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype(2015)233 cited
- → Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies(2009)197 cited