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Items: 14

1.

Mild clinical presentation and prolonged survival of a patient with fumarase deficiency due to the combination of a known and a novel mutation in FH gene.

Ezgu F, Krejci P, Wilcox WR.

Gene. 2013 Jul 25;524(2):403-6. doi: 10.1016/j.gene.2013.03.026. Epub 2013 Apr 20.

PMID:
23612258
2.

Infantile metabolic encephalopathy due to fumarase deficiency.

Saini AG, Singhi P.

J Child Neurol. 2013 Apr;28(4):535-7. doi: 10.1177/0883073812447286. Epub 2012 Jul 6.

PMID:
22772160
3.

Mild fumarase deficiency and a trial of low protein diet.

Kimonis VE, Steller J, Sahai I, Grange DK, Shoemaker J, Zelaya BM, Mandell R, Shih K, Shih V.

Mol Genet Metab. 2012 Sep;107(1-2):241-2. doi: 10.1016/j.ymgme.2012.04.010. Epub 2012 Apr 20.

PMID:
22595425
4.

Detection of a novel FH whole gene deletion in the propositus leading to subsequent prenatal diagnosis in a sibship with fumarase deficiency.

Mroch AR, Laudenschlager M, Flanagan JD.

Am J Med Genet A. 2012 Jan;158A(1):155-8. doi: 10.1002/ajmg.a.34344. Epub 2011 Nov 8.

PMID:
22069215
5.

Fumaric aciduria: an overview and the first Brazilian case report.

Allegri G, Fernandes MJ, Scalco FB, Correia P, Simoni RE, Llerena JC Jr, de Oliveira ML.

J Inherit Metab Dis. 2010 Aug;33(4):411-9. doi: 10.1007/s10545-010-9134-2. Epub 2010 Jun 15. Review.

PMID:
20549362
6.

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.

Zeng WQ, Gao H, Brueton L, Hutchin T, Gray G, Chakrapani A, Olpin S, Shih VE.

Am J Med Genet A. 2006 May 1;140(9):1004-9.

PMID:
16575891
7.

Fumarase deficiency presenting with periventricular cysts.

Loeffen J, Smeets R, Voit T, Hoffmann G, Smeitink J.

J Inherit Metab Dis. 2005;28(5):799-800.

PMID:
16151915
8.

Defects of pyruvate metabolism and the Krebs cycle.

De Meirleir L.

J Child Neurol. 2002 Dec;17 Suppl 3:3S26-33; discussion 3S33-4. Review.

PMID:
12597053
9.

Fumaric aciduria: clinical and imaging features.

Kerrigan JF, Aleck KA, Tarby TJ, Bird CR, Heidenreich RA.

Ann Neurol. 2000 May;47(5):583-8.

PMID:
10805328
10.

Molecular analysis and prenatal diagnosis of human fumarase deficiency.

Coughlin EM, Christensen E, Kunz PL, Krishnamoorthy KS, Walker V, Dennis NR, Chalmers RA, Elpeleg ON, Whelan D, Pollitt RJ, Ramesh V, Mandell R, Shih VE.

Mol Genet Metab. 1998 Apr;63(4):254-62.

PMID:
9635293
11.

Congenital fumarase deficiency presenting with hypotonia and areflexia.

Narayanan V, Diven W, Ahdab-Barmada M.

J Child Neurol. 1996 May;11(3):252-5. No abstract available.

PMID:
8734035
12.

Fumarase deficiency: two siblings with enlarged cerebral ventricles and polyhydramnios in utero.

Remes AM, Rantala H, Hiltunen JK, Leisti J, Ruokonen A.

Pediatrics. 1992 Apr;89(4 Pt 2):730-4. Review.

PMID:
1557269
13.

Anaesthesia for patients with mitochondrial myopathy.

Burns AM, Shelly MP.

Anaesthesia. 1989 Dec;44(12):975-7.

14.

A fourth case of fumarase deficiency.

Walker V, Mills GA, Hall MA, Millward-Sadler GH, English NR, Chalmers RA.

J Inherit Metab Dis. 1989;12(3):331-2. No abstract available.

PMID:
2515378
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