News on Clinical Details and Treatment in PGM1-CDG

Mutations in Cypher/ZASPin patients with dilated cardiomyopathy and left ventricular non-compaction

Matteo Vatta, Bhagyalaxmi Mohapatra, Shinawe Jimenez et al. · Journal of the American College of Cardiology · 2003 · 515 citations

Medicine, Cardiology, Genetics +12

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy.

R Niehues, Martin Hasilik, Gordon Alton et al. · Journal of Clinical Investigation · 1998 · 428 citations · Full text

Life Sciences, Biochemistry, Pathobiology +11

Multiple Phenotypes in Phosphoglucomutase 1 Deficiency

Laura C. Tegtmeyer, Stephan Rust, Monique van Scherpenzeel et al. · New England Journal of Medicine · 2014 · 285 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Carbohydrate deficient glycoprotein (CDG) syndrome type I.

Jaak Jaeken, Gert Matthijs, Rita Barone et al. · Journal of Medical Genetics · 1997 · 191 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +15

Interference of Transferrin Isoform Types with Carbohydrate-deficient Transferrin Quantification in the Identification of Alcohol Abuse

Anders Helander, Gunne Eriksson, Helena Stibler et al. · Clinical Chemistry · 2001 · 173 citations · Full text

Life Sciences, Biochemistry, Alcohol Toxicology +8