Katharina A. Schiergens

Newborn screening: A disease‐changing intervention for glutaric aciduria type 1

Nikolas Boy, Katharina Mengler, Eva Thimm et al. · Annals of Neurology · 2018 · 110 citations · Full text

Medicine, Neurology, Pediatrics +15

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

Ulrike Mütze, Lucy Henze, Florian Gleich et al. · Journal of Inherited Metabolic Disease · 2021 · 45 citations · Full text

Medicine, Child Health, Pediatrics +17

The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

E. M. Charlotte Märtner, Eva Thimm, Philipp Guder et al. · Scientific Reports · 2021 · 28 citations · Full text

Medicine, Neurology, Pediatrics +17

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Amelie S. Lotz‐Havla, Wulf Röschinger, Katharina A. Schiergens et al. · Orphanet Journal of Rare Diseases · 2018 · 24 citations · Full text

Life Sciences, Biochemistry, Clinical Biochemistry +16

Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study

E. M. Charlotte Märtner, Esther M. Maier, Katharina Mengler et al. · Journal of Inherited Metabolic Disease · 2020 · 22 citations · Full text

Medicine, Nutrition, Pediatrics +15