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Haluska FG, Russo G, Kant J, Andreef M, Croce CM
J Am Coll Cardiol , 2018
Emma struggled from day one: Poor feeder, irritable, failed to gain weight At 4 months, switched to cow's milk formula (fortified with folic acid) By 6 months: severe developmental delays, abnormal muscle tone MRI showed white matter abnormalities Diagnosis: Cerebral Folate Deficiency (genetic testing was normal) Standard Treatment: Started on Leucovorin 5 mg daily
MiPNet article Abbreviation: E Reference: BEC 2020.1, Gnaiger 2020 BEC MitoPathways, Gnaiger 2009 Int J Biochem Cell Biol Oroboros (2017) MiPNet Abstract: Measurement of ET capacity in the decoupled state at optimum uncoupler concentration does not represent a general substitute for determination of OXPHOS-capacity (compare State 3)
Data are represented as the mean SD
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