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Results: 1 to 20 of 104

1.

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
[PubMed - indexed for MEDLINE]
2.

Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect.

Wortmann SB, Kluijtmans LA, Sequeira S, Wevers RA, Morava E.

JIMD Rep. 2014 Apr 23. [Epub ahead of print]

PMID:
24757000
[PubMed - as supplied by publisher]
3.

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
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.

Wortmann SB, Rodenburg RJ, Jonckheere A, de Vries MC, Huizing M, Heldt K, van den Heuvel LP, Wendel U, Kluijtmans LA, Engelke UF, Wevers RA, Smeitink JA, Morava E.

Brain. 2009 Jan;132(Pt 1):136-46. doi: 10.1093/brain/awn296. Epub 2008 Nov 16.

PMID:
19015156
[PubMed - indexed for MEDLINE]
Free Article
6.

Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria.

Tort F, García-Silva MT, Ferrer-Cortès X, Navarro-Sastre A, Garcia-Villoria J, Coll MJ, Vidal E, Jiménez-Almazán J, Dopazo J, Briones P, Elpeleg O, Ribes A.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):73-7. doi: 10.1016/j.ymgme.2013.04.021. Epub 2013 May 3.

PMID:
23707711
[PubMed - indexed for MEDLINE]
7.

Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation.

Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, Engelke U, Wevers R, Smeitink JA, Morava E.

Mol Genet Metab. 2006 May;88(1):47-52. Epub 2006 Mar 9.

PMID:
16527507
[PubMed - indexed for MEDLINE]
8.

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.

PMID:
20882351
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

3-Methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4').

Chitayat D, Chemke J, Gibson KM, Mamer OA, Kronick JB, McGill JJ, Rosenblatt B, Sweetman L, Scriver CR.

J Inherit Metab Dis. 1992;15(2):204-12.

PMID:
1382150
[PubMed - indexed for MEDLINE]
10.

3-Methylglutaconic aciduria in "optic atrophy plus".

Costeff H, Elpeleg O, Apter N, Divry P, Gadoth N.

Ann Neurol. 1993 Jan;33(1):103-4.

PMID:
8494328
[PubMed - indexed for MEDLINE]
11.

Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1.

Sarig O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, Manov I, Saada A, Sprecher E, Mandel H.

Am J Med Genet A. 2013 Sep;161(9):2204-15. doi: 10.1002/ajmg.a.36059. Epub 2013 Aug 5.

PMID:
23918762
[PubMed - indexed for MEDLINE]
12.

A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy.

Pantaleoni C, D'Arrigo S, D'Incerti L, Rimoldi M, Riva D.

Pediatr Neurol. 2000 Nov;23(5):442-4.

PMID:
11118804
[PubMed - indexed for MEDLINE]
13.

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.

Di Rosa G, Deodato F, Loupatty FJ, Rizzo C, Carrozzo R, Santorelli FM, Boenzi S, D'Amico A, Tozzi G, Bertini E, Maiorana A, Wanders RJ, Dionisi-Vici C.

J Inherit Metab Dis. 2006 Aug;29(4):546-50. Epub 2006 May 30.

PMID:
16736096
[PubMed - indexed for MEDLINE]
14.

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
[PubMed - indexed for MEDLINE]
15.

3-Methylglutaconic aciduria: ten new cases with a possible new phenotype.

al Aqeel A, Rashed M, Ozand PT, Brismar J, Gascon GG, al Odaib A, Dabbagh O.

Brain Dev. 1994 Nov;16 Suppl:23-32.

PMID:
7726378
[PubMed - indexed for MEDLINE]
16.

Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria.

Gibson KM, Sherwood WG, Hoffman GF, Stumpf DA, Dianzani I, Schutgens RB, Barth PG, Weismann U, Bachmann C, Schrynemackers-Pitance P, et al.

J Pediatr. 1991 Jun;118(6):885-90.

PMID:
1710267
[PubMed - indexed for MEDLINE]
17.

A novel OPA3 mutation revealed by exome sequencing: an example of reverse phenotyping.

Arif B, Kumar KR, Seibler P, Vulinovic F, Fatima A, Winkler S, Nürnberg G, Thiele H, Nürnberg P, Jamil AZ, Brüggemann A, Abbas G, Klein C, Naz S, Lohmann K.

JAMA Neurol. 2013 Jun;70(6):783-7. doi: 10.1001/jamaneurol.2013.1174.

PMID:
23700088
[PubMed - indexed for MEDLINE]
18.

Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes.

Stojanović V, Doronjski A.

J Pediatr Endocrinol Metab. 2013;26(1-2):151-4. doi: 10.1515/jpem-2012-0291.

PMID:
23382305
[PubMed - indexed for MEDLINE]
19.

3-Methylglutaconic and 3-methylglutaric aciduria in a patient with suspected 3-methylglutaconyl-CoA hydratase deficiency.

Lehnert W, Scharf J, Wendel U.

Eur J Pediatr. 1985 Mar;143(4):301-3.

PMID:
2580710
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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