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Items: 1 to 20 of 23

1.

Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70.

Shchelochkov OA, Li FY, Wang J, Zhan H, Towbin JA, Jefferies JL, Wong LJ, Scaglia F.

Mol Genet Metab. 2010 Oct-Nov;101(2-3):282-5. doi: 10.1016/j.ymgme.2010.07.012. Epub 2010 Jul 24.

PMID:
20728387
2.

Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement.

Figarella-Branger D, Pellissier JF, Scheiner C, Wernert F, Desnuelle C.

J Neurol Sci. 1992 Mar;108(1):105-13. Review.

PMID:
1320661
3.

[Mitochondrial disorders associated with mitochondrial respiratory chain complex V deficiency].

Li XY, Yang YL.

Zhongguo Dang Dai Er Ke Za Zhi. 2013 Jul;15(7):596-600. Review. Chinese.

4.

Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review.

Sato T, Muroya K, Hanakawa J, Iwano R, Asakura Y, Tanaka Y, Murayama K, Ohtake A, Hasegawa T, Adachi M.

Eur J Pediatr. 2015 Dec;174(12):1593-602. doi: 10.1007/s00431-015-2576-7. Epub 2015 Jun 16. Review.

PMID:
26074369
5.

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.

Wortmann SB, Duran M, Anikster Y, Barth PG, Sperl W, Zschocke J, Morava E, Wevers RA.

J Inherit Metab Dis. 2013 Nov;36(6):923-8. doi: 10.1007/s10545-012-9580-0. Epub 2013 Jan 8. Review.

PMID:
23296368
6.

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

Pastores GM, Santorelli FM, Shanske S, Gelb BD, Fyfe B, Wolfe D, Willner JP.

Am J Med Genet. 1994 Apr 15;50(3):265-71. Review.

PMID:
8042671
7.

Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.

Mordaunt DA, Jolley A, Balasubramaniam S, Thorburn DR, Mountford HS, Compton AG, Nicholl J, Manton N, Clark D, Bratkovic D, Friend K, Yu S.

Am J Med Genet A. 2015 Jun;167(6):1330-6. doi: 10.1002/ajmg.a.36968. Epub 2015 Apr 21. Review.

PMID:
25899669
8.

Nuclear genetic defects of mitochondrial ATP synthase.

Hejzlarová K, Mráček T, Vrbacký M, Kaplanová V, Karbanová V, Nůsková H, Pecina P, Houštěk J.

Physiol Res. 2014;63 Suppl 1:S57-71. Review.

9.

Cytochrome c oxidase deficiency.

Shoubridge EA.

Am J Med Genet. 2001 Spring;106(1):46-52. Review.

PMID:
11579424
10.

The expanding clinical spectrum of mitochondrial diseases.

De Vivo DC.

Brain Dev. 1993 Jan-Feb;15(1):1-22. Review.

PMID:
8338207
11.

Complex I deficiency: clinical features, biochemistry and molecular genetics.

Fassone E, Rahman S.

J Med Genet. 2012 Sep;49(9):578-90. doi: 10.1136/jmedgenet-2012-101159. Review. Erratum in: J Med Genet. 2012 Oct;49(10):668.

PMID:
22972949
12.

Mitochondrial Cardiomyopathies.

El-Hattab AW, Scaglia F.

Front Cardiovasc Med. 2016 Jul 25;3:25. doi: 10.3389/fcvm.2016.00025. eCollection 2016. Review.

13.

The 3-methylglutaconic acidurias: what's new?

Wortmann SB, Kluijtmans LA, Engelke UF, Wevers RA, Morava E.

J Inherit Metab Dis. 2012 Jan;35(1):13-22. doi: 10.1007/s10545-010-9210-7. Epub 2010 Sep 30. Review.

14.

Cardiological manifestations of mitochondrial respiratory chain disorders.

Berardo A, Musumeci O, Toscano A.

Acta Myol. 2011 Jun;30(1):9-15. Review.

15.

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H.

Orphanet J Rare Dis. 2014 Aug 20;9:119. doi: 10.1186/s13023-014-0119-3. Review.

16.

Acute metabolic decompensation and sudden death in Barth syndrome: report of a family and a literature review.

Yen TY, Hwu WL, Chien YH, Wu MH, Lin MT, Tsao LY, Hsieh WS, Lee NC.

Eur J Pediatr. 2008 Aug;167(8):941-4. Epub 2007 Sep 11. Review.

PMID:
17846786
17.

Disorders of the electron transport chain.

Adams PL, Turnbull DM.

J Inherit Metab Dis. 1996;19(4):463-9. Review.

PMID:
8884570
18.

Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature.

Calderwood L, Holm IA, Teot LA, Anselm I.

J Child Neurol. 2016 Feb;31(2):190-4. doi: 10.1177/0883073815587327. Epub 2015 May 26. Review.

PMID:
26018198
19.

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060).

Barth PG, Wanders RJ, Vreken P, Janssen EA, Lam J, Baas F.

J Inherit Metab Dis. 1999 Jun;22(4):555-67. Review.

PMID:
10407787
20.

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