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

Sander M. Houten, Wietse Kuis, Marinus Duran, +11

Nature Genetics

Cause Hyperimmunoglobulinaemia DPeriodic Fever SyndromeAutoimmune DiseaseDisease MechanismImmunodeficiencies +9

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, +5

Biochemistry

EngineeringAsialo-carbohydrate UnitsGlycobiologyBiological Mass SpectrometryMolecular Biology +17

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

Hans R. Waterham, Frits A. Wijburg, Raoul C. M. Hennekam, +7

The American Journal of Human Genetics

Mendelian DisorderSmith-lemli-opitz Syndrome IsGenetic DisorderGeneticsInherited Metabolic Disease +6

Primary Structure of the Glycans from Human Lactotransferrin

G Spik, Gérard Strecker, Bernard Fournet, +5

European Journal of Biochemistry

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

Applied ChemistryBiochemistryNatural SciencesGlycobiologyJournal Pure +10

Newcastle disease virus contains a linkage-specific glycoprotein sialidase. Application to the localization of sialic acid residues in N-linked oligosaccharides of alpha 1-acid glycoprotein.

James C. Paulson, Jasminder Weinstein, L. Dorland, +2

Journal of Biological Chemistry

High‐Resolution ¹H‐NMR Spectroscopy of Free and Glycosidically Linked <i>O</i>‐ Acetylated Sialic Acids

Johan Haverkamp, Herman van Halbeek, L. Dorland, +3

European Journal of Biochemistry

The structure of the asialo‐carbohydrate units of human serotransferrin as proven by 360 MHz proton magnetic resonance spectroscopy

L. Dorland, J. Haverkamp, B.L. Schut, +5

FEBS Letters

BiochemistryMagnetic Resonance SpectroscopyGlycobiologyHuman SerotransferrinAsialo‐carbohydrate Units +2

Primary structure of the carbohydrate chain of soybean agglutinin. A reinvestigation by high resolution 1H NMR spectroscopy.

L. Dorland, H. van Halbeek, J.F. Vleigenthart, +2

Journal of Biological Chemistry

Primary-Structure Determination of Fourteen Neutral Oligosaccharides Derived from Bronchial-Mucus Glycoproteins of Patients Suffering from Cystic Fibrosis, Employing 500-MHz 1H-NMR Spectroscopy

Herman van Halbeek, L. Dorland, Johannes F.G. Vliegenthart, +5

European Journal of Biochemistry