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Results: 13

1.

Metabolite proofreading, a neglected aspect of intermediary metabolism.

Van Schaftingen E, Rzem R, Marbaix A, Collard F, Veiga-da-Cunha M, Linster CL.

J Inherit Metab Dis. 2013 May;36(3):427-34. doi: 10.1007/s10545-012-9571-1. Epub 2013 Jan 8. Review.

PMID:
23296366
2.

Progress in understanding 2-hydroxyglutaric acidurias.

Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C.

J Inherit Metab Dis. 2012 Jul;35(4):571-87. doi: 10.1007/s10545-012-9462-5. Epub 2012 Mar 6. Review.

3.

Cerebral neoplasms in L-2 hydroxyglutaric aciduria: 3 new cases and meta-analysis of literature data.

Patay Z, Mills JC, Löbel U, Lambert A, Sablauer A, Ellison DW.

AJNR Am J Neuroradiol. 2012 May;33(5):940-3. doi: 10.3174/ajnr.A2869. Epub 2012 Jan 12. Review.

4.

Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies.

Wajner M, Goodman SI.

J Bioenerg Biomembr. 2011 Feb;43(1):31-8. doi: 10.1007/s10863-011-9324-0. Review.

PMID:
21249436
5.

An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study.

Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, Augoustides-Savvapoulou P, Baric I, Baumann M, Bonafé L, Chabrol B, Clarke JT, Clayton P, Coker M, Cooper S, Falik-Zaccai T, Gorman M, Hahn A, Hasanoglu A, King MD, de Klerk HB, Korman SH, Lee C, Meldgaard Lund A, Mejaski-Bosnjak V, Pascual-Castroviejo I, Raadhyaksha A, Rootwelt T, Roubertie A, Ruiz-Falco ML, Scalais E, Schimmel U, Seijo-Martinez M, Suri M, Sykut-Cegielska J, Trefz FK, Uziel G, Valayannopoulos V, Vianey-Saban C, Vlaho S, Vodopiutz J, Wajner M, Walter J, Walter-Derbort C, Yapici Z, Zafeiriou DI, Spreeuwenberg MD, Celli J, den Dunnen JT, van der Knaap MS, Salomons GS.

Hum Mutat. 2010 Apr;31(4):380-90. doi: 10.1002/humu.21197. Review.

PMID:
20052767
6.

L: -2-Hydroxyglutaric aciduria, a disorder of metabolite repair.

Van Schaftingen E, Rzem R, Veiga-da-Cunha M.

J Inherit Metab Dis. 2009 Apr;32(2):135-42. doi: 10.1007/s10545-008-1042-3. Epub 2008 Nov 21. Review.

PMID:
19020988
7.

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.

Jequier Gygax M, Roulet-Perez E, Meagher-Villemure K, Jakobs C, Salomons GS, Boulat O, Superti-Furga A, Ballhausen D, Bonafé L.

Eur J Pediatr. 2009 Aug;168(8):957-62. doi: 10.1007/s00431-008-0869-9. Epub 2008 Nov 13. Review.

PMID:
19005678
8.

Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review.

Aghili M, Zahedi F, Rafiee E.

J Neurooncol. 2009 Jan;91(2):233-6. doi: 10.1007/s11060-008-9706-2. Epub 2008 Oct 18. Review.

PMID:
18931888
9.

Diffusion-weighted MR imaging in leukodystrophies.

Patay Z.

Eur Radiol. 2005 Nov;15(11):2284-303. Epub 2005 Jul 15. Review.

PMID:
16021451
10.

L-2-hydroxyglutaric aciduria and brain malignant tumors: a predisposing condition?

Moroni I, Bugiani M, D'Incerti L, Maccagnano C, Rimoldi M, Bissola L, Pollo B, Finocchiaro G, Uziel G.

Neurology. 2004 May 25;62(10):1882-4. Review.

PMID:
15159502
11.

[L-2-hydroxyglutaric aciduria].

Terada N.

Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):392-4. Review. Japanese. No abstract available.

PMID:
9590079
12.

Neurological manifestations of organic acid disorders.

Hoffmann GF, Gibson KM, Trefz FK, Nyhan WL, Bremer HJ, Rating D.

Eur J Pediatr. 1994;153(7 Suppl 1):S94-100. Review.

PMID:
7957396
13.

Physiology and pathophysiology of organic acids in cerebrospinal fluid.

Hoffmann GF, Meier-Augenstein W, Stöckler S, Surtees R, Rating D, Nyhan WL.

J Inherit Metab Dis. 1993;16(4):648-69. Review.

PMID:
8412012
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