Waterham, Hans R.

Top Publications

Top Publications Authored or Co-Authored by "Waterham, Hans R."

• Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6

  American Journal of Human Genetics, Volume 97, No. 4, Year 2015, Citations 101
• Clinical variability of isovaleric acidemia in a genetically homogeneous population

  Journal of Inherited Metabolic Disease, Volume 35, No. 6, Year 2012, Citations 45
• Bi-allelic GOT2 Mutations Cause a Treatable Malate-Aspartate Shuttle-Related Encephalopathy

  American Journal of Human Genetics, Volume 105, No. 3, Year 2019, Citations 42
• Barley has two peroxisomal ABC transporters with multiple functions in β-oxidation

  Journal of Experimental Botany, Volume 65, No. 17, Year 2014, Citations 24
• Novel genotype of mevalonic aciduria with fatalities in premature siblings

  Archives of Disease in Childhood: Fetal and Neonatal Edition, Volume 89, No. 1, Year 2004, Citations 16