Skip to Main Content

Paper Details

Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy.
Am J Med Genet A
12
2021
L-serine, PSAT1, congenital serine biosynthesis defect, contractures, ichthyosis, inborn errors of, neurodegeneration, neurodegenerative, neurological disabilities, phosphoserine, phosphoserine aminotransferase, phosphoserine aminotransferase deficiency, progressive neuropathy, serine, woman
Author NameAffiliation
Carlos R FerreiraNational Human Genome Research Institute, National Institutes of Health
Catherine GrodenNational Human Genome Research Institute, National Institutes of Health
Kelly A KingNational Institute on Deafness and Other Communication Disorders, National Institutes of Health
Edward W CowenNational Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
Edward W CowenNational Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health
Ellen MacnamaraNational Human Genome Research Institute, National Institutes of Health
Camilo ToroNational Human Genome Research Institute, National Institutes of Health
William A GahlNational Human Genome Research Institute, National Institutes of Health
William A GahlNational Human Genome Research Institute, National Institutes of Health
Ariane SoldatosNational Institute of Neurological Disorders and Stroke, National Institutes of Health
  • 1 - 10

Datasets

Release 1.2