Results 141 to 150 of about 1,983 (198)

Elevated Carbohydrate-Deficient Transferrin (CDT) and Its Normalization on Dietary Treatment as a Useful Biochemical Test for Hereditary Fructose Intolerance and Galactosemia [PDF]

, 2007
Ewa Pronicka, Maciej Adamowicz, Agnieszka Kowalik, Rafał Płoski, Barbara Radomyska, Małgorzata Rogaszewska, Dariusz Rokicki, Jolanta Sykut‐Cegielska   +7 more
openalex   +1 more source

Reshaping the Treatment Landscape of a Galactose Metabolism Disorder. [PDF]

J Inherit Metab Dis
Rubio-Gozalbo ME, Naomi Vos E, Rivera I, Lai K, Berry GT.   +4 more
europepmc   +1 more source

Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. Melanogaster model of classic galactosemia. [PDF]

J Inherit Metab Dis
Daenzer JMI, Druss JJ, Fridovich-Keil JL.   +2 more
europepmc   +1 more source

A case report of classic galactosemia with a GALT gene variant and a literature review. [PDF]

BMC Pediatr
Wang YC, Lan LC, Yang X, Xiao J, Liu HX, Shan QW.   +5 more
europepmc   +1 more source

Social cognition, psychosocial development and well-being in galactosemia. [PDF]

Orphanet J Rare Dis
Bry C, Propice K, Bourgin J, Métral M.
europepmc   +1 more source

Primary ovarian insufficiency in classic galactosemia: role of FSH dysfunction and timing of the lesion

, 2012
Cynthia S. Gubbels, Jolande A. Land, J.L.H. Evers, Jörgen Bierau, Paul P.C.A. Menheere, Simon G. F. Robben, M. Estela Rubio‐Gozalbo   +6 more
openalex   +1 more source

Assessment of Long-Term Safety and Efficacy of Purple Sweet Potato Color (PSPC) and Myo-Inositol (MI) Treatment for Motor Related and Behavioral Phenotypes in a Mouse Model of Classic Galactosemia. [PDF]

J Inherit Metab Dis
Bellagamba O, Guo AJ, Senthilkumar S, Lillevik SH, De Biase D, Lai K, Balakrishnan B.   +6 more
europepmc   +1 more source

Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel GALT Gene Mutation Identified. [PDF]

Medicina (Kaunas), 2020
Rokaitė R, Traberg R, Dženkaitis M, Kučinskienė R, Labanauskas L.   +4 more
europepmc   +1 more source

Results of the ACTION-Galactosemia Kids Study to Evaluate the Effects of Govorestat in Pediatric Patients with Classic Galactosemia. [PDF]

J Clin Pharmacol
Bailey E, Phan H, Ahmad A, Thomas J, Ames EG, Pritchard AB, Quinonez SC, Wang S, Dayley C, Salt A, Pick C, Durrant A, Johnson S, Nicodemus-Johnson J, Dickson SP, Perfetti R, Hendrix SB, Shendelman S.   +17 more
europepmc   +1 more source

Odimet^®: A Pioneering Tele-Health Tool to Empower Dietary Treatment and the Acute Management of Inborn Errors of Metabolism-An Assessment of Its Effectiveness during the COVID Pandemic. [PDF]

Nutrients
Sánchez-Pintos P, Camba-Garea MJ, López-Pardo BM, Couce ML.   +3 more
europepmc   +1 more source