Results 141 to 150 of about 1,934 (207)

Mediators of a long-term movement abnormality in a Drosophila melanogaster model of classic galactosemia

, 2012
Emily L. Ryan, Brian DuBoff, Mel Β. Feany, Judith L. Fridovich‐Keil   +3 more
openalex   +1 more source

Galactosemia a Disease that you Need to know

, 2022
Yolanda Cifuentes C
openalex   +1 more source

Differential Phonological Awareness Skills in Children with Classic Galactosemia: A Descriptive Study of Four Cases

, 2012
Fiona M. Lewis, David Coman, Maryanne Syrmis, Sarah Kilcoyne, Bruce E. Murdoch   +4 more
openalex   +2 more sources

Erroneous glucose recordings while using mutant variant of quinoprotein glucose dehydrogenase glucometer in a child with galactosemia

, 2013
Vivek Mathew, Anantharaman Ramakrishnan, Ranjini Srinivasan, K Sushma, Ganapathi Bantwal, Vageesh Ayyar   +5 more
openalex   +1 more source

The metastability of human UDP-galactose 4′-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding

, 2014
Ángel L. Pey, Esperanza Padín-González, Noel Mesa‐Torres, David J. Timson   +3 more
openalex   +2 more sources

Aplicação de fórmulas infantis em pacientes com galactosemia: Uma revisão integrativa

, 2023
Flávia Dantas Santos do Couto, Larissa Marrocos de Oliveira, Ana Carolina Oliveira Santos Gonçalves, Arthur Carmo Silva, Renata Carvalho Almeida, Maria Eduarda Santos Cedraz, Vitória Liz de Souza Correia, Arthur Carmo Silva   +7 more
openalex   +2 more sources

Developmental Defects in a Caenorhabditis elegans Model for Type III Galactosemia

, 2014
Ana María Brokate-Llanos, José Manuel Monje, Piedad del Socorro Murdoch, Manuel J. Muñoz   +3 more
openalex   +1 more source

Qualitative interviews with adults with Classic Galactosemia and their caregivers: disease burden and challenges with daily living. [PDF]

Orphanet J Rare Dis, 2022
Randall JA, Sutter C, Wang S, Bailey E, Raither L, Perfetti R, Shendelman S, Burbridge C.   +7 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