Results 71 to 80 of about 5,107 (173)

Distinct Immunological Phenotype in Galactosemia Type 3 Patients with Biallelic GALE Mutations

Journal of Human Immunity
Galactosemia involves different forms of inborn errors of metabolism affecting galactose processing. Different from type 1 and type 2, respectively, related to GALT and GALK1 defects, type 3 galactosemia is due to biallelic mutations in UDP-galactose-4 ...
Juyoung Kim, Luis I. González-Granado, Alejandro D. Iglesias, Jennifer L. Stoddard, Ana Esteve-Sole, Julie E. Niemela, Agustin A. Gil Silva, Hye Sun Kuehn, Sergio D. Rosenzweig   +8 more
doaj   +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

Reproductive potential in classical galactosemia: A case series based perspective. [PDF]

Eur J Obstet Gynecol Reprod Biol X
Panis B, van Golde RJ, Brouwers MC, Körver-Keularts IM, Noga MJ, Rubio-Gozalbo ME.   +5 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

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

J Inherit Metab Dis
Niess E, Niess F, Bogner W, Svatkova A, Herle M, Laußner L, Hingerl L, Strasser B, Pichler M, Konstantopoulou V, Hufgard-Leitner M, Buchinger D, Milenkovic I, Kautzky-Willer A, Stulnig T, Scherer T.   +15 more
europepmc   +1 more source

Exit interviews with caregivers of pediatric patients with classic galactosemia to explore meaningfulness of changes in the ACTION-galactosemia kids trial. [PDF]

Orphanet J Rare Dis
Randall JA, Sutter C, Wang S, Bailey E, Raither L, Perfetti R, Shendelman S, Burbridge C.   +7 more
europepmc   +1 more source

Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy. [PDF]

Am J Case Rep
Al-Ahmari AA.
europepmc   +1 more source

Ocular Clues to Liver Disease: A Strategic Diagnostic Lens. [PDF]

Diseases
Dahshan M, Dahshan H, Basoglu A, Kadikoy H.   +3 more
europepmc   +1 more source

Experimental Galactose-1-Phosphate Uridylyltransferase (GALT) mRNA Therapy Improves Motor-Related Phenotypes in a Mouse Model of Classic Galactosemia-A Pilot Study. [PDF]

Biomedicines
Bellagamba O, Guo AJ, Yan X, Sarkis J, Balakrishnan B, Lai K.   +5 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