Below are the most recent publications written about "Metabolism, Inborn Errors" by people in Profiles.
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Yuen L, Sahai I, O'Grady L, Selig M, Walker MA, Shah U, Misdraji J. Hepatic histologic findings in a case of MEGDHEL syndrome due to SERAC1 deficiency. Am J Med Genet A. 2022 09; 188(9):2760-2765.
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Tolomeo M, Nisco A, Barile M. Alteration of Flavin Cofactor Homeostasis in Human Neuromuscular Pathologies. Methods Mol Biol. 2021; 2280:275-295.
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Gaier ED, Sahai I, Wiggs JL, McGeeney B, Hoffman J, Peeler CE. Novel homozygous OPA3 mutation in an Afghani family with 3-methylglutaconic aciduria type III and optic atrophy. Ophthalmic Genet. 2019 12; 40(6):570-573.
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Galan C, Krykbaeva M, Rando OJ. Early life lessons: The lasting effects of germline epigenetic information on organismal development. Mol Metab. 2020 08; 38:100924.
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Gupta A, Sanville J, Menz T, Warner N, Muise AM, Fiedler K, Mart?n MG, Padbury J, Phornphutkul C, Sanchez-Esteban J, Cerezo CS. Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis. J Pediatr Gastroenterol Nutr. 2019 Jun; 68(6):e106-e108.
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van Karnebeek CD, Bonaf? L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier-Daire V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LA, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heise T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A. NANS-mediated synthesis of sialic acid is required for brain and skeletal development. Nat Genet. 2016 07; 48(7):777-84.
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Takahashi K, Kurokawa K, Moyo P, Jung DJ, An JH, Chigweshe L, Paul E, Lee BL. Intradermal immunization with wall teichoic acid (WTA) elicits and augments an anti-WTA IgG response that protects mice from methicillin-resistant Staphylococcus aureus infection independent of mannose-binding lectin status. PLoS One. 2013; 8(8):e69739.
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Watson E, MacNeil LT, Arda HE, Zhu LJ, Walhout AJM. Integration of metabolic and gene regulatory networks modulates the C. elegans dietary response. Cell. 2013 Mar 28; 153(1):253-66.
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Fearing MK, Israel EJ, Sahai I, Rapalino O, Lisovsky M. Case records of the Massachusetts General Hospital. Case 12-2011. A 9-month-old boy with acute liver failure. N Engl J Med. 2011 Apr 21; 364(16):1545-56.
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Sahai I, Zytkowicz T, Rao Kotthuri S, Lakshmi Kotthuri A, Eaton RB, Akella RR. Neonatal screening for inborn errors of metabolism using tandem mass spectrometry: experience of the pilot study in Andhra Pradesh, India. Indian J Pediatr. 2011 Aug; 78(8):953-60.