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Compromising UDP-sugar nucleotide biosynthesis attenuates <i>Candida albicans</i> viability, virulence and drug sensitivity. [PDF]
Malavia-Jones D +6 more
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Comprehensive analysis of Dof transcription factors in <i>Dendrobium</i> species and functional characterization of <i>DoDof4</i> in the accumulation of water-soluble polysaccharides. [PDF]
Xu Z +7 more
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Congenital disorders of glycosylation type 1A associated with cerebral hemorrhagic infarction: illustrative case. [PDF]
Nomura Y +6 more
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Elevated atmospheric CO2-induced reprogramming leads to decreased seed protein and nutritional quality in forest trees. [PDF]
Karpinska B +4 more
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6-Methoxyflavone inhibits glycolytic energy metabolism in HeLa cells. [PDF]
Zhang C, Chen L.
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American Journal of Medical Genetics Part A, 2020
AbstractPhosphomannomutase 2 deficiency (PMM2‐CDG) is an autosomal recessive congenital disorder of glycosylation, characterized by multisystem phenotypes, mostly including neurological involvement. In Turkey, due to high rates of consanguinity, many patients with autosomal recessive disorders have homozygous variants and these diseases are more common,
Yılmaz Yıldız +8 more
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AbstractPhosphomannomutase 2 deficiency (PMM2‐CDG) is an autosomal recessive congenital disorder of glycosylation, characterized by multisystem phenotypes, mostly including neurological involvement. In Turkey, due to high rates of consanguinity, many patients with autosomal recessive disorders have homozygous variants and these diseases are more common,
Yılmaz Yıldız +8 more
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Severe Hepatitis: An Unusual Presentation of Phosphomannomutase 2 Deficiency
2021Portuguese Journal of Pediatrics, Vol. 52 No. 4 (2021)
Pinto Silva, Catarina +3 more
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