Results 61 to 70 of about 368 (102)

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

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

Investigating the Effects of Yunnan Lufeng Aromatic Vinegar Intervention on Intestinal Microbiota, SCFAs, and Metabolites in Mice Using Multi-Omics Techniques. [PDF]

Foods
Chen H, Zhao R, Xiao Z, Li Y, Yang J, Jiang S, Xu S, Xu Z, Gu D.   +8 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

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

Galactosaemia occurring in association with primary ovarian insufficiency, Addison's disease and chronic myeloid leukaemia. [PDF]

BMJ Case Rep, 2021
Khoury B, Shakir MK, Hoang TD.
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

Epalrestat Alleviates Reactive Oxygen Species and Endoplasmic Reticulum Stress by Maintaining Glycosylation in IMS32 Schwann Cells Under Exposure to Galactosemic Conditions. [PDF]

Int J Mol Sci
Yako H, Niimi N, Takaku S, Yamauchi J, Sango K.   +4 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

Newborn screening for galactosaemia. [PDF]

Cochrane Database Syst Rev, 2017
Lak R, Yazdizadeh B, Davari M, Nouhi M, Kelishadi R.   +4 more
europepmc   +1 more source