Concepedia

Katrina H. Arajs

KH

Statistics

Publications

1

Citations

65

H-Index

1

Active since

2014

Affiliations

Office of the Director(Current)

Katrina H. Arajs is an author at Office of the Director specializing in common diseases, pathology, and lysosomal storage disease.

Top concepts

GeneticsMedicinePathologyPathogenesisRare DiseasesNeuropathologyCommon DiseasesMolecular DiagnosticsLysosomal Storage DiseaseInherited Metabolic Disease

Publications per year

2014–2014

1

Publications

1

Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivity

David R. Adams, Hongjie Yuan, Todd Holyoak et al. · Molecular Genetics and Metabolism · 2014 · 65 citations · Full text

Rare Diseases, Mendelian Disorder, Disease Mechanism +14

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