Abnormalities in succinylpurines in fuma... [J Inherit Metab Dis. 2000] - PubMed

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Adenylosuccinase deficiency: a newly recognized variant. [J Inherit Metab Dis. 1992]
Adenylosuccinase deficiency: a newly recognized variant.
Jaeken J, Van den Bergh F, Vincent MF, Casaer P, Van den Berghe G. J Inherit Metab Dis. 1992; 15(3):416-8.
Review [Fumarase deficiency]. [Ryoikibetsu Shokogun Shirizu. ...]
Review [Fumarase deficiency].
Miyabayashi S. Ryoikibetsu Shokogun Shirizu. 1998; (18 Pt 1):351-4.
Fumarase deficiency presenting with periventricular cysts. [J Inherit Metab Dis. 2005]
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.
Fumarate hydratase deficiency. [J Inherit Metab Dis. 1998]
Fumarate hydratase deficiency.
Bonioli E, Di Stefano A, Peri V, Caruso U, Cerone R, Lamantea E, Taroni F, Bellini C. J Inherit Metab Dis. 1998 Jun; 21(4):435-6.
Review [Fumarase deficiency]. [Nihon Rinsho. 2002]
Review [Fumarase deficiency].
Miyabayashi S. Nihon Rinsho. 2002 Apr; 60 Suppl 4:759-62.

Structural basis of fumarate hydratase deficiency. [J Inherit Metab Dis. 2011]
Structural basis of fumarate hydratase deficiency.
Picaud S, Kavanagh KL, Yue WW, Lee WH, Muller-Knapp S, Gileadi O, Sacchettini J, Oppermann U. J Inherit Metab Dis. 2011 Jun; 34(3):671-6. Epub 2011 Mar 29.
Intracellular succinylation of 8-chloroadenosine and its effect on fumarate levels. [J Biol Chem. 2010]
Intracellular succinylation of 8-chloroadenosine and its effect on fumarate levels.
Dennison JB, Ayres ML, Kaluarachchi K, Plunkett W, Gandhi V. J Biol Chem. 2010 Mar 12; 285(11):8022-30. Epub 2010 Jan 11.

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Abnormalities in succinylpurines in fumarase deficiency: possible role in pathog...
Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment.
J Inherit Metab Dis. 2000 Jun ;23(4):371-4.

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