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Items: 1 to 20 of 34

1.

Renal Involvement in Methylmalonic Aciduria.

Alkhunaizi AM, Al-Sannaa N.

Kidney Int Rep. 2017 Apr 28;2(5):956-960. doi: 10.1016/j.ekir.2017.04.007. eCollection 2017 Sep. No abstract available.

2.

TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells.

Erlich-Hadad T, Hadad R, Feldman A, Greif H, Lictenstein M, Lorberboum-Galski H.

J Cell Mol Med. 2018 Mar;22(3):1601-1613. doi: 10.1111/jcmm.13435. Epub 2017 Dec 19.

3.

Disorders of branched chain amino acid metabolism.

Manoli I, Venditti CP.

Transl Sci Rare Dis. 2016 Nov 7;1(2):91-110. doi: 10.3233/TRD-160009.

4.

Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders.

Stepien KM, Heaton R, Rankin S, Murphy A, Bentley J, Sexton D, Hargreaves IP.

J Clin Med. 2017 Jul 19;6(7). pii: E71. doi: 10.3390/jcm6070071. Review.

5.

Glutathione as a Redox Biomarker in Mitochondrial Disease-Implications for Therapy.

Enns GM, Cowan TM.

J Clin Med. 2017 May 3;6(5). pii: E50. doi: 10.3390/jcm6050050. Review.

6.

Antenatal nephromegaly and propionic acidemia: a case report.

Bernheim S, Deschênes G, Schiff M, Cussenot I, Niel O.

BMC Nephrol. 2017 Mar 30;18(1):110. doi: 10.1186/s12882-017-0535-4.

7.

Evidence of redox imbalance in a patient with succinic semialdehyde dehydrogenase deficiency.

Niemi AK, Brown C, Moore T, Enns GM, Cowan TM.

Mol Genet Metab Rep. 2014 Apr 1;1:129-132. eCollection 2014.

8.

Defects in muscle branched-chain amino acid oxidation contribute to impaired lipid metabolism.

Lerin C, Goldfine AB, Boes T, Liu M, Kasif S, Dreyfuss JM, De Sousa-Coelho AL, Daher G, Manoli I, Sysol JR, Isganaitis E, Jessen N, Goodyear LJ, Beebe K, Gall W, Venditti CP, Patti ME.

Mol Metab. 2016 Aug 6;5(10):926-36. doi: 10.1016/j.molmet.2016.08.001. eCollection 2016 Oct.

9.

Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.

Camp KM, Krotoski D, Parisi MA, Gwinn KA, Cohen BH, Cox CS, Enns GM, Falk MJ, Goldstein AC, Gopal-Srivastava R, Gorman GS, Hersh SP, Hirano M, Hoffman FA, Karaa A, MacLeod EL, McFarland R, Mohan C, Mulberg AE, Odenkirchen JC, Parikh S, Rutherford PJ, Suggs-Anderson SK, Tang WH, Vockley J, Wolfe LA, Yannicelli S, Yeske PE, Coates PM.

Mol Genet Metab. 2016 Nov;119(3):187-206. doi: 10.1016/j.ymgme.2016.09.002. Epub 2016 Sep 20. Review.

10.

Methylmalonic and propionic acidemias: clinical management update.

Fraser JL, Venditti CP.

Curr Opin Pediatr. 2016 Dec;28(6):682-693. Review.

11.

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.

Forny P, Schumann A, Mustedanagic M, Mathis D, Wulf MA, Nägele N, Langhans CD, Zhakupova A, Heeren J, Scheja L, Fingerhut R, Peters HL, Hornemann T, Thony B, Kölker S, Burda P, Froese DS, Devuyst O, Baumgartner MR.

J Biol Chem. 2016 Sep 23;291(39):20563-73. doi: 10.1074/jbc.M116.747717. Epub 2016 Aug 12.

12.

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.

Brooks BP, Thompson AH, Sloan JL, Manoli I, Carrillo-Carrasco N, Zein WM, Venditti CP.

Ophthalmology. 2016 Mar;123(3):571-82. doi: 10.1016/j.ophtha.2015.10.041. Epub 2016 Jan 26.

13.

The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers.

Caterino M, Chandler RJ, Sloan JL, Dorko K, Cusmano-Ozog K, Ingenito L, Strom SC, Imperlini E, Scolamiero E, Venditti CP, Ruoppolo M.

Mol Biosyst. 2016 Feb;12(2):566-74. doi: 10.1039/c5mb00736d.

14.

Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.

Imtiaz F, Al-Mubarak BM, Al-Mostafa A, Al-Hamed M, Allam R, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Faqeih EA, Alasmari A, Al-Mutairi F, Alfadhel M, Eyaid WM, Rashed MS, Al-Sayed M.

JIMD Rep. 2016;29:39-46. Epub 2015 Nov 29.

15.

Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients.

Ktena YP, Ramstad T, Baker EH, Sloan JL, Mannes AJ, Manoli I, Venditti CP.

J Inherit Metab Dis. 2015 Sep;38(5):847-53. doi: 10.1007/s10545-015-9816-x. Epub 2015 May 19. Review.

16.

Vector design influences hepatic genotoxicity after adeno-associated virus gene therapy.

Chandler RJ, LaFave MC, Varshney GK, Trivedi NS, Carrillo-Carrasco N, Senac JS, Wu W, Hoffmann V, Elkahloun AG, Burgess SM, Venditti CP.

J Clin Invest. 2015 Feb;125(2):870-80. doi: 10.1172/JCI79213. Epub 2015 Jan 20.

17.

Metabolic disturbances in diseases with neurological involvement.

Duarte JM, Schuck PF, Wenk GL, Ferreira GC.

Aging Dis. 2013 Nov 30;5(4):238-55. doi: 10.14336/AD.2014.0500238. eCollection 2014 Aug. Review.

18.

Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies.

Brasil S, Richard E, Jorge-Finnigan A, Leal F, Merinero B, Banerjee R, Desviat LR, Ugarte M, Pérez B.

Clin Genet. 2015 Jun;87(6):576-81. doi: 10.1111/cge.12426. Epub 2014 Jun 6.

19.

Mechanisms of acute kidney injury induced by experimental Lonomia obliqua envenomation.

Berger M, Santi L, Beys-da-Silva WO, Oliveira FM, Caliari MV, Yates JR 3rd, Vieira MA, Guimarães JA.

Arch Toxicol. 2015 Mar;89(3):459-83. doi: 10.1007/s00204-014-1264-0. Epub 2014 May 6.

20.

Vitamin B(12) metabolism during pregnancy and in embryonic mouse models.

Moreno-Garcia MA, Rosenblatt DS, Jerome-Majewska LA.

Nutrients. 2013 Sep 10;5(9):3531-50. doi: 10.3390/nu5093531. Review.

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