Lactose and Galactose Content in Spanish Cheeses: Usefulness in the Dietary Treatment of Patients with Galactosaemia. [PDF]
Nutrients, 2023 Vitoria I +6 more
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Clinical and biochemical evolution after partial dietary liberalization of two cases of galactosemia due to galactose mutarotase deficiency. [PDF]
BMC PediatrSánchez-Pintos P +9 more
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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.
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Myo-Inositol Deficiency, Structural Brain Changes, and Cerebral Perfusion Alterations in Classic Galactosemia: Preliminary Insights From a Multiparametric MRI Study. [PDF]
J Inherit Metab DisNiess E +15 more
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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.
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The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan. [PDF]
Int J Neonatal Screen, 2021 Kikuchi A, Wada Y, Ohura T, Kure S.
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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 SciYako H +4 more
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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 DisRandall JA +7 more
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Newborn screening for galactosaemia. [PDF]
Cochrane Database Syst Rev, 2017 Lak R +4 more
europepmc +1 more source
Improvement of Mutant Galactose-1-Phosphate Uridylyltransferase (GALT) Activity by FDA-Approved Pharmacochaperones: A Preliminary Study. [PDF]
Int J Mol SciScafuri B +7 more
europepmc +1 more source