Results 41 to 50 of about 400 (136)

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

J Inherit Metab Dis, 2023
Druss JJ, Rudd Zhong Manis J, Potter NL, Fridovich-Keil JL.   +3 more
europepmc   +1 more source

Galactosemia [PDF]

Revista chilena de pediatría, 1988
Herskovic L, Pedro, Haium M, Abdalla, González F, Rodrigo, Moreno P, Alberto, Venegas V, Guillermo, Asenjo M, Sylvia, Colombo C, Marta, Rairnann B, Erna   +7 more
openaire   +2 more sources

Adrenal insufficiency due to high doses of maternal corticosteroid treatment in a premature baby. [PDF]

BMJ Case Rep, 2022
Blondel F, Pierron C, Scalais E, Becker M.   +3 more
europepmc   +1 more source

Galactokinase deficiency: a treatable cause of bilateral cataracts. [PDF]

BMJ Case Rep, 2021
Cordeiro C, Garcia P, Coelho D, Oliva M.
europepmc   +1 more source

Unusual Presentation of Classical Galactosemia: A Case Report of Iranian Experience. [PDF]

Clin Case Rep
Alaee M, Saneifard H, Shakiba M, Hanifeh M, Moarefian S.   +4 more
europepmc   +1 more source

Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes. [PDF]

Int J Neonatal Screen
Jamaleddin T, El-Akouri K, Abiib S, Mitri R, Ramaswamy M, Musa S, Ali R, Shahbeck N, Al Rifai H, Abdoh G, Ben-Omran T, Al-Dirbashi OY, Al-Shafai M.   +12 more
europepmc   +1 more source

Immunological Manifestations in GALE Deficiency: Extending the Spectrum Beyond Thrombocytopenia and Galactosemia. [PDF]

J Clin Immunol
Kristal E, Khalaila A, Asleh M, Quider AA, Eshel YD, Mahdi NE, Hadad N, Almashanu S, Miskin H, Staretz-Chacham O, Ben-Harosh M.   +10 more
europepmc   +1 more source

Classic Galactosemia: Clinical and Computational Characterization of a Novel GALT Missense Variant (p.A303D) and a Literature Review. [PDF]

Int J Mol Sci, 2023
Forte G, Buonadonna AL, Pantaleo A, Fasano C, Capodiferro D, Grossi V, Sanese P, Cariola F, De Marco K, Lepore Signorile M, Manghisi A, Guglielmi AF, Simonetti S, Laforgia N, Disciglio V, Simone C.   +15 more
europepmc   +1 more source

Pretreatment With a Selected Strain of Baker's Yeast, GY007, Prevents the Accumulation of Galactose Metabolites Following Dietary Galactose Exposure in a GALT-Null Rat Model of Classic Galactosemia. [PDF]

J Inherit Metab Dis
Rasmussen SA, Garrett OS, Fridovich-Keil JL.   +2 more
europepmc   +1 more source

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

Mol Genet Metab, 2023
Stettner NM, Cutler DJ, Fridovich-Keil JL.   +2 more
europepmc   +1 more source