Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b
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Molecular genetics and metabolism - ISSN 1096-7192-142:2 (2024) p. 1-6
Brain function in classic galactosemia, a galactosemia network (GalNet) members review
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Frontiers in genetics - ISSN 1664-8021-15 (2024) p. 1-11
Natural history of three late-diagnosed classic Galactosemia patients
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Molecular Genetics and Metabolism Reports - ISSN 2214-4269-38 (2024) p. 1-5
Imerslund-Gräsbeck syndrome : a comprehensive review of reported cases
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Orphanet journal of rare diseases - ISSN 1750-1172-18:1 (2023) p. 1-10
Metachromatic leukodystrophy : to screen or not to screen?
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European journal of paediatric neurology - ISSN 1090-3798-46 (2023) p. 1-7