Andrea Schlune

Guanidinoacetate methyltransferase (GAMT) deficiency: Outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Sylvia Stöckler‐Ipsiroglu, Clara van Karnebeek, Nicola Longo et al. · Molecular Genetics and Metabolism · 2013 · 140 citations · Full text

Medicine, Neurology, Pharmacotherapy +16

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data

Martina Huemer, Céline Bürer, Pavel Ješina et al. · Journal of Inherited Metabolic Disease · 2014 · 55 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I — A decade of experience

Stefan Kölker, S. P. Nikolas Boy, Jana Herınger et al. · Molecular Genetics and Metabolism · 2012 · 51 citations

Agriculture, Nutrition, Nutritional Sciences +15

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients

Sarah C. Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt et al. · Molecular Genetics and Metabolism · 2017 · 49 citations

Life Sciences, Biochemistry, Endocrinology +6

Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency

Areeg El‐Gharbawy, Jennifer Goldstein, David S. Millington et al. · Molecular Genetics and Metabolism · 2013 · 46 citations

Medicine, Biochemistry, Pediatrics +5