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Commentary: Galactosemia Diagnosis by Whole Exome Sequencing Later in Life
Author(s) -
Friedman Jennifer,
LucasDelPozo Sara,
MorenoMartinez David,
CamprodonGomez Maria,
MorenoMartinez Daniel,
HernandezVara Jorge,
Kurian Manju A.
Publication year - 2021
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.13304
Subject(s) - galactosemia , failure to thrive , pediatrics , hypotonia , exome sequencing , global developmental delay , newborn screening , etiology , medicine , jaundice , psychomotor retardation , pathology , genetics , biology , phenotype , alternative medicine , biochemistry , gene , galactose