نتایج جستجو برای: cobalamin deficiency
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BACKGROUND Oleosin is a plant protein localized to lipid droplets and endoplasmic reticulum of plant cells. Our idea was to use it to target functional secretory proteins of interest to the cytosolic side of the endoplasmic reticulum of mammalian cells, through expressing oleosin-containing chimeras. We have designed this approach to create cellular models deficient in vitamin B12 (cobalamin) b...
Megaloblastic anemia is rare in infants and is generally due to vitamin B12 (cobalamin) deficiency in the mother. Neurologic symptoms of vitamin B12 deficiency include irritability, failure to thrive, hypotonia, and developmental regression/delay. Herein we present 2 infants with vitamin B12 that developed movement disorder 5 d after initiation of vitamin B12 treatment. Symptoms included tremor...
methylmalonic acidemia (mma) is usually caused by a deficiency of the enzyme methylmalonyl-coa mutase (mcm), a defect in the transport or synthesis of its cofactor, adenosyl-cobalamin (cbla, cblb, cblc, cblf, cbld, and cblx), or deficiency of the enzyme methylmalonyl-coa epimerase. a comprehensive diagnostic approach involves investigations of metabolites with tandem mass spectrometry, organic ...
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