Maria Arélin

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

Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Maya Chopra, Meriel McEntagart, Jill Clayton‐Smith et al. · The American Journal of Human Genetics · 2021 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

PKU patients on a relaxed diet may be at risk for micronutrient deficiencies

Carmen Rohde, A von Teeffelen-Heithoff, Alena Gerlinde Thiele et al. · European Journal of Clinical Nutrition · 2013 · 39 citations

Agriculture, Nutrition, Nutritional Sciences +14

Growth and Final Height Among Children With Phenylketonuria

Alena Gerlinde Thiele, Ruth Gausche, Cornelia Lindenberg et al. · PEDIATRICS · 2017 · 27 citations

Medicine, Child Health, Pediatrics +14

The challenge of long-term tetrahydrobiopterin (BH4) therapy in phenylketonuria: Effects on metabolic control, nutritional habits and nutrient supply

Alena Gerlinde Thiele, Carmen Rohde, Ulrike Mütze et al. · Molecular Genetics and Metabolism Reports · 2015 · 26 citations · Full text

Agriculture, Nutrition, Nutritional Sciences +12