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Items: 20

1.

3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.

Wortmann SB, Kluijtmans LA, Rodenburg RJ, Sass JO, Nouws J, van Kaauwen EP, Kleefstra T, Tranebjaerg L, de Vries MC, Isohanni P, Walter K, Alkuraya FS, Smuts I, Reinecke CJ, van der Westhuizen FH, Thorburn D, Smeitink JA, Morava E, Wevers RA.

J Inherit Metab Dis. 2013 Nov;36(6):913-21. doi: 10.1007/s10545-012-9579-6. Epub 2013 Jan 25.

PMID:
23355087
2.

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
3.

Costeff optic atrophy syndrome: new clinical case and novel molecular findings.

Ho G, Walter JH, Christodoulou J.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S419-23. doi: 10.1007/s10545-008-0981-z. Epub 2008 Nov 7. Review.

PMID:
18985435
4.

A missense mutation in the murine Opa3 gene models human Costeff syndrome.

Davies VJ, Powell KA, White KE, Yip W, Hogan V, Hollins AJ, Davies JR, Piechota M, Brownstein DG, Moat SJ, Nichols PP, Wride MA, Boulton ME, Votruba M.

Brain. 2008 Feb;131(Pt 2):368-80. doi: 10.1093/brain/awm333.

PMID:
18222992
5.

Myeloid dysplasia in familial 3-methylglutaconic aciduria.

Haimi M, Elhasid R, Gershoni-Baruch R, Izraeli S, Wanders RJ, Mandel H.

J Pediatr Hematol Oncol. 2006 Feb;28(2):69-72.

PMID:
16462576
6.

3-methylglutaconic aciduria disorders: the clinical spectrum increases.

Arn P, Funanage VL.

J Pediatr Hematol Oncol. 2006 Feb;28(2):62-3. No abstract available.

PMID:
16462574
7.

Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.

Davey KM, Parboosingh JS, McLeod DR, Chan A, Casey R, Ferreira P, Snyder FF, Bridge PJ, Bernier FP.

J Med Genet. 2006 May;43(5):385-93. Epub 2005 Jul 31.

8.

OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria.

Neas K, Bennetts B, Carpenter K, White R, Kirk EP, Wilson M, Kelley R, Baric I, Christodoulou J.

J Inherit Metab Dis. 2005;28(4):525-32.

PMID:
15902555
9.

3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features.

Gunay-Aygun M.

Mol Genet Metab. 2005 Jan;84(1):1-3. Review. No abstract available.

PMID:
15719488
10.

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.

Reynier P, Amati-Bonneau P, Verny C, Olichon A, Simard G, Guichet A, Bonnemains C, Malecaze F, Malinge MC, Pelletier JB, Calvas P, Dollfus H, Belenguer P, Malthièry Y, Lenaers G, Bonneau D.

J Med Genet. 2004 Sep;41(9):e110. No abstract available.

11.

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.

Barth PG, Valianpour F, Bowen VM, Lam J, Duran M, Vaz FM, Wanders RJ.

Am J Med Genet A. 2004 May 1;126A(4):349-54. Review.

PMID:
15098233
12.

3-methylglutaconic aciduria type I in a boy with fever-associated seizures.

Illsinger S, Lücke T, Zschocke J, Gibson KM, Das AM.

Pediatr Neurol. 2004 Mar;30(3):213-5.

PMID:
15033206
13.

3-Methylglutaconic aciduria type I is caused by mutations in AUH.

IJlst L, Loupatty FJ, Ruiter JP, Duran M, Lehnert W, Wanders RJ.

Am J Hum Genet. 2002 Dec;71(6):1463-6. Epub 2002 Nov 14. Erratum in: Am J Hum Genet. 2003 Sep;73(3):709.

14.

3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings.

Kleta R, Skovby F, Christensen E, Rosenberg T, Gahl WA, Anikster Y.

Mol Genet Metab. 2002 Jul;76(3):201-6.

PMID:
12126933
15.
16.

Musculoskeletal deformities in Behr syndrome.

Copeliovitch L, Katz K, Arbel N, Harries N, Bar-On E, Soudry M.

J Pediatr Orthop. 2001 Jul-Aug;21(4):512-4.

PMID:
11433166
17.

What is the origin of 3-methylglutaconic acid?

Walsh R, Conway H, Roche G, Mayne PD.

J Inherit Metab Dis. 1999 May;22(3):251-5. No abstract available.

PMID:
10384380
18.

3-Methyl glutaconic aciduria in Iraqi Jewish children may be misdiagnosed as cerebral palsy.

Straussberg R, Brand N, Gadoth N.

Neuropediatrics. 1998 Feb;29(1):54-6.

PMID:
9553953
19.

Ineffectiveness of oral coenzyme Q10 supplementation in 3-methylglutaconic aciduria, type 3.

Costeff H, Apter N, Elpeleg ON, Prialnic M, Böhles HJ.

Brain Dev. 1998 Jan;20(1):33-5.

PMID:
9533558
20.

3-Methylglutaconic aciduria in the Iraqi-Jewish 'optic atrophy plus' (Costeff) syndrome.

Elpeleg ON, Costeff H, Joseph A, Shental Y, Weitz R, Gibson KM.

Dev Med Child Neurol. 1994 Feb;36(2):167-72.

PMID:
7510656

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