Importance of early diagnosis of galactosemia and encephalopathy: case report
, 2021 Bruno Cassis Antunes Rodrigues +2 more
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Integrated Approaches and Practical Recommendations in Patient Care Identified with 5q Spinal Muscular Atrophy through Newborn Screening. [PDF]
Genes (Basel)Romanelli Tavares VL +10 more
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Long-term complications in classic galactosemia are not progressive. [PDF]
Mol Genet Metab, 2023 Smith NH +8 more
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Galactofuranose biosynthesis is important for maintaining normal growth and cell wall properties in Aspergillus nidulans [PDF]
The cell wall is essential for fungal survival in natural environments. Galactofuranose (Galf) decorates certain carbohydrates and lipids of Aspergillus cell wall, is absent in humans and appears to play a role in fungal cell wall maturation.
Alam, Md Kausar
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Coexistence of Duarte 1 and Duarte 2 variants of galactosemia with extrahepatic biliary atresia
, 2010 Ramandeep Singh +4 more
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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
Early postnatal alterations in follicular stress response and survival in a mouse model of Classic Galactosemia. [PDF]
J Ovarian Res, 2022 Hagen-Lillevik S, Johnson J, Lai K.
europepmc +1 more source
Galactosemia clássica, como diagnosticar e evitar possíveis consequências
, 2022 Cármen Torres +2 more
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A GC-MS-based untargeted metabolomics approach for comprehensive metabolic profiling of mycophenolate mofetil-induced toxicity in mice. [PDF]
Front Mol BiosciZhao T, Zhao Y, Chen H, Sun W, Guan Y.
europepmc +1 more source