J M Kirk

The Importance of Long-term Acute Care Hospitals in the Regional Epidemiology of Klebsiella pneumoniae Carbapenemase–Producing Enterobacteriaceae

Michael Y. Lin, Rosie D. Lyles-Banks, Karen Lolans et al. · Clinical Infectious Diseases · 2013 · 228 citations · Full text

The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?

Brage Storstein Andresen, Peter Bross, Szabolcs Udvari et al. · Human Molecular Genetics · 1997 · 122 citations · Full text

Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure

André B. P. Kuilenburg, Doreen Dobritzsch, Rutger Meinsma et al. · Biochemical Journal · 2002 · 111 citations · Full text

Crystal Structure, Genetics, Molecular Biology +17

Novel and recurrent tyrosine aminotransferase gene mutations in tyrosinemia typeII

Regina Hühn, Heike Stoermer, Beate Klingele et al. · Human Genetics · 1998 · 69 citations

Tyrosinemia Typeii, Mendelian Disorder, Genetic Disorder +6

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

Joe Rainger, Hemant Bengani, Lauren Campbell et al. · Human Molecular Genetics · 2012 · 69 citations · Full text

Distinct Subgroup, Pyrimidine Biosynthesis, Genetics +21