Kimiyo Raymond
Mayo Clinic(US)Mayo Clinic in Arizona(US)Mayo Clinic in Florida(US)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Glycosylation and Glycoproteins Research, Metabolism and Genetic Disorders, Carbohydrate Chemistry and Synthesis, Folate and B Vitamins Research
Most-Cited Works
- → Multiple Phenotypes in Phosphoglucomutase 1 Deficiency(2014)284 cited
- → PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia(2014)178 cited
- → ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation(2016)150 cited
- → International clinical guidelines for the management of phosphomannomutase 2‐congenital disorders of glycosylation: Diagnosis, treatment and follow up(2019)143 cited
- → Combined Newborn Screening for Succinylacetone, Amino Acids, and Acylcarnitines in Dried Blood Spots(2008)141 cited
- → Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry(2010)130 cited