Detlef Knoll

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

David McHugh, Cynthia A. Cameron, José E. Abdenur et al. · Genetics in Medicine · 2011 · 349 citations · Full text

Metabolic Syndrome, Newborn Screening, Metabolic Disorder +10

Enhanced interpretation of newborn screening results without analyte cutoff values

Gregg Marquardt, Robert J. Currier, David McHugh et al. · Genetics in Medicine · 2012 · 123 citations · Full text

Early Diagnosis, Newborn Screening, Neonatology +8

The correlation between biochemical and histopathological findings in adrenoleukodystrophy

Carolus J. Reinecke, Detlef Knoll, P.J. Pretorius et al. · Journal of the Neurological Sciences · 1985 · 29 citations

Adrenal Gland, Histopathology, Pathology +6

Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination

Engela Honey, M. van Rensburg, Detlef Knoll et al. · Clinical Dysmorphology · 2003 · 24 citations

Introducing Newborn Screening for Severe Combined Immunodeficiency—The New Zealand Experience

Natasha Heather, Mark de Hora, Shannon Brothers et al. · International Journal of Neonatal Screening · 2022 · 15 citations · Full text

Neonatology, Immunodeficiencies, Newborn Screening +17