Judith L. Fridovich-Keil

Galactosemia: the good, the bad, and the unknown.

Ovarian function in girls and women with GALT-deficiency galactosemia.

Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.

Gastrointestinal Health in Classic Galactosemia.

Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.

Drosophila melanogaster Models of Galactosemia.

Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemia.

Low-level maternal exposure to nicotine associates with significant metabolic perturbations in second-trimester amniotic fluid.

Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia.

Developmental Outcomes in Duarte Galactosemia.

Developmental outcomes of children with Duarte galactosemia: exploring the bases of an apparent contradiction in the literature.

A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT-null rat pups.

Hand fine motor control in classic galactosemia.

Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia.

Acute and early developmental outcomes of children with Duarte galactosemia.

DAB-quant: An open-source digital system for quantifying immunohistochemical staining with 3,3'-diaminobenzidine (DAB).

Pathophysiology of long-term complications in classic galactosemia: What we do and do not know.

A multinational study of acute and long-term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT.

Racial and ethnic diversity of classic and clinical variant galactosemia in the United States.

Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model.

Long-term complications in classic galactosemia are not progressive.