Results 51 to 60 of about 400 (136)

Galactose tolerance in adults with classical galactosaemia. Considering the gaps. [PDF]

Mol Genet Metab Rep
Shakerdi LA, Thacker CN, Moore K, Sheerin A, Noga M, Rubio-Gozalbo ME, Berry GT, O'Byrne JJ, Saldova R, Treacy EP.   +9 more
europepmc   +1 more source

Galactosemia: Biochemistry, Molecular Genetics, Newborn Screening, and Treatment. [PDF]

Biomolecules, 2022
Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M.   +4 more
europepmc   +1 more source

The Importance of Neonatal Screening for Galactosemia. [PDF]

Nutrients, 2022
Badiu Tișa I, Achim AC, Cozma-Petruț A.   +2 more
europepmc   +1 more source

Sepsis caused by Phytobacter diazotrophicus complicated with galactosemia type 1 in China: a case report. [PDF]

BMC Infect Dis
Lin J, Wu J, Gong L, Li X, Wang G.
europepmc   +1 more source

Current and Future Treatments for Classic Galactosemia. [PDF]

J Pers Med, 2021
Delnoy B, Coelho AI, Rubio-Gozalbo ME.
europepmc   +1 more source

Training Primary Healthcare Professionals for Expanded Newborn Screening with Tandem Mass Spectrometry: Challenges for Community Genetics in Brazil. [PDF]

Int J Neonatal Screen
Reis LC, Tonon T, Acosta MB, Castro SM, Coutinho VLS, Melo DG, Schwartz IVD.   +6 more
europepmc   +1 more source

Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia. [PDF]

Nutrients, 2023
Vitoria I, Melendreras F, Vázquez-Palazón A, Rausell D, Correcher P, González-Lamuño D, García-Peris M.   +6 more
europepmc   +1 more source

Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency. [PDF]

BMC Pediatr
Sánchez-Pintos P, Camba-Garea MJ, López-Pardo BM, de Juan JAC, Bóveda MD, Barbosa-Gouveia S, Vázquez-Mosquera ME, Barros-Angueira F, Patiño RF, Couce ML.   +9 more
europepmc   +1 more source

Assessment of Dietary Intake of Iodine and Risk of Iodine Deficiency in Children with Classical Galactosaemia on Dietary Treatment. [PDF]

Nutrients, 2023
Milner D, Boyle F, McNulty J, Knerr I.
europepmc   +1 more source

Redefining the approach to rare diseases: the experience of "Casa dos Raros" in Brazil. [PDF]

J Community Genet
Giugliani R, de Oliveira BM, Guaraná BB, Tonon T, Trapp FB, da Costa FM, da Silva LP, Baldo G, Riegel-Giugliani M, Barbosa F, Daher A, de Souza CFM.   +11 more
europepmc   +1 more source