Rebecca Heiner‐Fokkema

Screening for metabolic vitamin B ₁₂ deficiency by holotranscobalamin in patients suspected of vitamin B ₁₂ deficiency: a multicentre study

Sandra G. Heil, Róbert de Jonge, Maurits C. F. J. de Rotte et al. · Annals of Clinical Biochemistry International Journal of Laboratory Medicine · 2012 · 88 citations · Full text

Agriculture, Nutrition, Nutritional Sciences +14

Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability

Francjan J. van Spronsen, Nastassja Himmelreich, Véronique Rüfenacht et al. · Journal of Medical Genetics · 2017 · 51 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Favorable Outcome in a Newborn With Molybdenum Cofactor Type A Deficiency Treated With cPMP

Marrit M. Hitzert, Arend F. Bos, Klasien A. Bergman et al. · PEDIATRICS · 2012 · 46 citations · Full text

Medicine, Neurology, Pediatrics +17

Synergistic use of glycomics and single‐molecule molecular inversion probes for <scp>identification</scp> of congenital disorders of glycosylation type‐1

Nurulamin Abu Bakar, Angel Ashikov, Jaime Moritz Brum et al. · Journal of Inherited Metabolic Disease · 2022 · 23 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Plasma Lead Concentration and Risk of Late Kidney Allograft Failure: Findings From the TransplantLines Biobank and Cohort Studies

Camilo G. Sotomayor, Flavia Giubergia, Dion Groothof et al. · American Journal of Kidney Diseases · 2021 · 16 citations · Full text

Medicine, Nephrology, Toxicology +17