Detlef Knoll
Publications by Year
Research Areas
Metabolism and Genetic Disorders, Mitochondrial Function and Pathology, Neonatal Health and Biochemistry, Diet and metabolism studies, Folate and B Vitamins Research
Most-Cited Works
- → Enhanced interpretation of newborn screening results without analyte cutoff values(2012)123 cited
- → The decision to discontinue screening for carnitine uptake disorder in New Zealand(2019)35 cited
- → The correlation between biochemical and histopathological findings in adrenoleukodystrophy(1985)29 cited
- → Spondyloenchondromatosis with D-2-hydroxyglutaric aciduria: a report of a second patient with this unusual combination(2003)24 cited
- → Introducing Newborn Screening for Severe Combined Immunodeficiency—The New Zealand Experience(2022)16 cited
- → The natural history of elevated tetradecenoyl‐L‐carnitine detected by newborn screening in New Zealand: implications for very long chain acyl‐CoA dehydrogenase deficiency screening and treatment(2016)13 cited
- → Citrullinaemia type I: A common mutation in the Pacific Island population(2011)12 cited
- → The Risk of Fatty Acid Oxidation Disorders and Organic Acidemias in Children with Normal Newborn Screening(2016)8 cited
- → Genotype–phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations(2022)4 cited