Last Updated: 09/26/2026
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Found 2 publications
Deficient activity of alanyl-tRNA synthetase underlies an autosomal recessive syndrome of progressive microcephaly, hypomyelination, and epileptic encephalopathy.
Journal: Human mutation
Published: January 17, 2017
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 08, 2016
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Last Updated: 09/26/2026