Results 61 to 70 of about 400 (136)

Myo-Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI Study. [PDF]

open access: yesJ Inherit Metab Dis
Niess E   +15 more
europepmc   +1 more source

Newborn screening for galactosaemia. [PDF]

open access: yesCochrane Database Syst Rev, 2017
Lak R   +4 more
europepmc   +1 more source

Improvement of Mutant Galactose-1-Phosphate Uridylyltransferase (GALT) Activity by FDA-Approved Pharmacochaperones: A Preliminary Study. [PDF]

open access: yesInt J Mol Sci
Scafuri B   +7 more
europepmc   +1 more source

Patterns of Penetrance and Expressivity of Long-Term Outcomes in Classic Galactosemia. [PDF]

open access: yesJ Inherit Metab Dis
Smith NH   +4 more
europepmc   +1 more source

Diagnosing the oil drop: A case report and review of the literature. [PDF]

open access: yesIndian J Ophthalmol, 2019
Chhapan RJ, Yerramneni R, Ramappa M.
europepmc   +1 more source

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