List of works by Kimiyo Raymond

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project.

scientific article published in March 2011

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1

Enhanced interpretation of newborn screening results without analyte cutoff values.

scientific article published on 16 February 2012

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

scientific article

Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature

scientific article published on 12 October 2020

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

scientific article published on April 2013

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

scientific article

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