L. Dorland

Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome

Sander M. Houten, Wietse Kuis, Marinus Duran et al. · Nature Genetics · 1999 · 522 citations

Life Sciences, Genetics, Molecular Genetics +7

Determination of the primary structures of 16 asialo-carbohydrate units derived from human plasma α₁-acid glycoprotein by 360-MHz proton NMR spectroscopy and permethylation analysis

Bernard Fournet, Jean Montreuil, Gérard Strecker et al. · Biochemistry · 1978 · 424 citations

Life Sciences, Biochemistry, Chemistry +16

Smith-Lemli-Opitz Syndrome Is Caused by Mutations in the 7-Dehydrocholesterol Reductase Gene

Hans R. Waterham, Frits A. Wijburg, Raoul C. M. Hennekam et al. · The American Journal of Human Genetics · 1998 · 297 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Primary Structure of the Glycans from Human Lactotransferrin

G Spik, Gérard Strecker, Bernard Fournet et al. · European Journal of Biochemistry · 1982 · 206 citations · Full text

Life Sciences, Biochemistry, Molecular Biology +16

The applicability of 500-MHz high-resolution 1H-NMR spectroscopy for the structure determination of carbohydrates derived from glycoproteins

Johannes F.G. Vliegenthart, H. van Halbeek, L. Dorland · Pure and Applied Chemistry · 1981 · 196 citations · Full text

Life Sciences, Biochemistry, Chemistry +15