Andrea Dieckmann

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

Nikolas Boy, Katharina Mengler, Eva Thimm et al. · Annals of Neurology · 2018 · 104 citations · Full text

Early diagnosis of cerebral involvement in Sturge-Weber syndrome using high-resolution BOLD MR venography

H.-J. Mentzel, Andrea Dieckmann, Clemens Fitzek et al. · Pediatric Radiology · 2004 · 62 citations

Early Diagnosis, Neurological Disorder, Cerebral Involvement +14

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 · 40 citations · Full text

The Clinical and Molecular Spectrum of GM1 Gangliosidosis

Laila Arash‐Kaps, Katalin Komlósi, Marlene Seegräber et al. · The Journal of Pediatrics · 2019 · 35 citations

Histopathology, Pathology, General Pathology +5

<i>EED</i> and <i>EZH2</i> constitutive variants: A study to expand the Cohen‐Gibson syndrome phenotype and contrast it with Weaver syndrome

Sara Griffiths, Chey Loveday, Anna Zachariou et al. · American Journal of Medical Genetics Part A · 2019 · 34 citations

Genetics, Genetic Epidemiology, Pathology +18