Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 105

1.

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
2.

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
3.

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
4.

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.

5.

Multiple syndromes of 3-methylglutaconic aciduria.

Gibson KM, Elpeleg ON, Jakobs C, Costeff H, Kelley RI.

Pediatr Neurol. 1993 Mar-Apr;9(2):120-3. Review.

PMID:
8499040
6.

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
7.

3-Methylglutaconic aciduria in a patient with Pearson syndrome.

Lichter-Konecki U, Trefz FK, Rötig A, Munnich A, Pfeil A, Bremer HJ.

Eur J Pediatr. 1993 Apr;152(4):378. No abstract available.

PMID:
8482296
8.

Inherited 3-methylglutaconic aciduria in two brothers--another defect of leucine metabolism.

Duran M, Beemer FA, Tibosch AS, Bruinvis L, Ketting D, Wadman SK.

J Pediatr. 1982 Oct;101(4):551-4.

PMID:
6181239
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.

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
11.

Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria.

Laube GF, Leonard JV, van't Hoff WG.

Pediatr Nephrol. 2003 Jul;18(7):712-3. Epub 2003 May 15.

PMID:
12750979
12.

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
13.
14.

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
15.

Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency.

Gibson KM, Wappner RS, Jooste S, Erasmus E, Mienie LJ, Gerlo E, Desprechins B, De Meirleir L.

J Inherit Metab Dis. 1998 Aug;21(6):631-8. No abstract available.

PMID:
9762598
16.

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
17.

3-Methylglutaconic aciduria presenting as Reye syndrome in a Chinese boy.

Hou JW, Wang TR.

J Inherit Metab Dis. 1995;18(5):645-6. No abstract available.

PMID:
8598651
18.

Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria.

Narisawa K, Gibson KM, Sweetman L, Nyhan WL, Duran M, Wadman SK.

J Clin Invest. 1986 Apr;77(4):1148-52.

19.

3-Methylglutaconic aciduria: a new variant.

Zeharia A, Elpeleg ON, Mukamel M, Weitz R, Ariel R, Mimouni M.

Pediatrics. 1992 Jun;89(6 Pt 1):1080-2.

PMID:
1594352
20.

3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal.

Gibson KM, Nyhan WL, Sweetman L, Narisawa K, Lehnert W, Divry P, Robinson BH, Roth KS, Beemer FA, van Sprang FJ, et al.

Eur J Pediatr. 1988 Oct;148(1):76-82.

PMID:
3197737
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk