-
1
-
-
33745893228
-
The glutamate/GABA-glutamine cycle: Aspects of transport, neurotransmitter homeostasis and ammonia transfer
-
16787421 10.1111/j.1471-4159.2006.03913.x 1:CAS:528:DC%2BD28XovFGhsL4%3D
-
Bak LK, Schousboe A, Waagepetersen HS (2006) The glutamate/GABA-glutamine cycle: aspects of transport, neurotransmitter homeostasis and ammonia transfer. J Neurochem 98:641-653
-
(2006)
J Neurochem
, vol.98
, pp. 641-653
-
-
Bak, L.K.1
Schousboe, A.2
Waagepetersen, H.S.3
-
2
-
-
33846340459
-
Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidema
-
17236900 10.1016/j.jpeds.2006.11.043
-
Baumgartner D, Scholl-Bürgi S, Sass JO et al (2007) Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidema. J Pediatr 150:192-197
-
(2007)
J Pediatr
, vol.150
, pp. 192-197
-
-
Baumgartner, D.1
Scholl-Bürgi, S.2
Sass, J.O.3
-
3
-
-
77953608893
-
Warburg tumours and the mechanism of mitochondrial tumour suppressor genes. Barking up at the right tree?
-
20304625 10.1016/j.gde.2010.02.008 1:CAS:528:DC%2BC3cXntlCru7k%3D
-
Bayley JP, Devilee P (2010) Warburg tumours and the mechanism of mitochondrial tumour suppressor genes. Barking up at the right tree? Curr Opin Genet Dev 20:324-329
-
(2010)
Curr Opin Genet Dev
, vol.20
, pp. 324-329
-
-
Bayley, J.P.1
Devilee, P.2
-
4
-
-
0034602950
-
Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
-
10657297 10.1126/science.287.5454.848 1:CAS:528:DC%2BD3cXhtVehtrs%3D
-
Baysal BE, Ferrell RE, Willett-Brozick JE et al (2000) Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287:848-851
-
(2000)
Science
, vol.287
, pp. 848-851
-
-
Baysal, B.E.1
Ferrell, R.E.2
Willett-Brozick, J.E.3
-
5
-
-
84863883001
-
Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers
-
22252611 10.1007/s10545-011-9433-2 1:CAS:528:DC%2BC38XpvVyrsrw%3D
-
Braissant O (2012) Creatine and guanidinoacetate transport at blood-brain and blood-cerebrospinal fluid barriers. J Inherit Metab Dis 35:655-664
-
(2012)
J Inherit Metab Dis
, vol.35
, pp. 655-664
-
-
Braissant, O.1
-
6
-
-
3442889456
-
On the mechanism of action of the antifungal agent propionate. Propionyl-CoA inhibits glucose metabolism in Aspergillus nidulans
-
15265042 10.1111/j.1432-1033.2004.04255.x 1:CAS:528:DC%2BD2cXmsFCit7w%3D
-
Brock M, Buckel W (2004) On the mechanism of action of the antifungal agent propionate. Propionyl-CoA inhibits glucose metabolism in Aspergillus nidulans. Eur J Biochem 271:3227-3241
-
(2004)
Eur J Biochem
, vol.271
, pp. 3227-3241
-
-
Brock, M.1
Buckel, W.2
-
7
-
-
33745105118
-
Anaplerotic molecules: Current and future
-
16763895 10.1007/s10545-006-0320-1
-
Brunengraber H, Roe CR (2006) Anaplerotic molecules: current and future. J Inherit Metab Dis 29:327-331
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 327-331
-
-
Brunengraber, H.1
Roe, C.R.2
-
8
-
-
85031653094
-
Glutaric aciduria type i and glioma: First report in a young adult patient
-
abstract
-
Burlina AP, Danieli D, Malfa F et al (2012) Glutaric aciduria type I and glioma: first report in a young adult patient. J Inherit Metab Dis 35(Suppl 1):S58, abstract
-
(2012)
J Inherit Metab Dis
, vol.35
, Issue.SUPPL. 1
, pp. 58
-
-
Burlina, A.P.1
Danieli, D.2
Malfa, F.3
-
9
-
-
84867897305
-
Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA)
-
23046887 10.1016/j.ymgme.2012.09.019 1:CAS:528:DC%2BC38XhsVKqsbzO
-
Chandler RJ, Venditti CP (2012) Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA). Mol Genet Metab 107:617-619
-
(2012)
Mol Genet Metab
, vol.107
, pp. 617-619
-
-
Chandler, R.J.1
Venditti, C.P.2
-
10
-
-
65349127550
-
Mitochondrial dysfunction in mut methylmalonic acidemia
-
19088183 10.1096/fj.08-121848 1:CAS:528:DC%2BD1MXktVWnt7g%3D
-
Chandler RJ, Zerfas PM, Shanske S et al (2009) Mitochondrial dysfunction in mut methylmalonic acidemia. FASEB J 23:1252-1261
-
(2009)
FASEB J
, vol.23
, pp. 1252-1261
-
-
Chandler, R.J.1
Zerfas, P.M.2
Shanske, S.3
-
11
-
-
84859717317
-
Propionic acidemia: To liver transplant or not to liver transplant?
-
10.1111/j.1399-3046.2012.01649.x
-
Chapman KA, Summar ML, Enns GM (2012) Propionic acidemia: to liver transplant or not to liver transplant? Pediatr Transpl 16:209-210
-
(2012)
Pediatr Transpl
, vol.16
, pp. 209-210
-
-
Chapman, K.A.1
Summar, M.L.2
Enns, G.M.3
-
12
-
-
0016717991
-
Effect of 2-methylcitrate on citrate metabolism: Implications for the management of patients with propionic acidemia and methylmalonic aciduria
-
127973 1:CAS:528:DyaE28XlslWmsQ%3D%3D
-
Cheema-Dhadli S, Leznoff CC, Halperin ML (1975) Effect of 2-methylcitrate on citrate metabolism: implications for the management of patients with propionic acidemia and methylmalonic aciduria. Pediatr Res 9:905-908
-
(1975)
Pediatr Res
, vol.9
, pp. 905-908
-
-
Cheema-Dhadli, S.1
Leznoff, C.C.2
Halperin, M.L.3
-
13
-
-
79955547561
-
The oncometabolite 2-hydroxyglutarate inhibits histone lysine demethylases
-
10.1038/embor.2011.43
-
Chowdbury R, Yeoh KK, Tian YM et al (2012) The oncometabolite 2-hydroxyglutarate inhibits histone lysine demethylases. EMBO Rep 12:463-469
-
(2012)
EMBO Rep
, vol.12
, pp. 463-469
-
-
Chowdbury, R.1
Yeoh, K.K.2
Tian, Y.M.3
-
14
-
-
51649100173
-
Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria
-
18676166 10.1016/j.ymgme.2008.06.007 1:CAS:528:DC%2BD1cXhtFCgtbjJ
-
Cosson MA, Touati G, Lacaille F et al (2008) Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria. Mol Genet Metab 95:107-109
-
(2008)
Mol Genet Metab
, vol.95
, pp. 107-109
-
-
Cosson, M.A.1
Touati, G.2
Lacaille, F.3
-
15
-
-
0018595957
-
Inhibition of propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia
-
500823 10.1172/JCI109614 1:CAS:528:DyaL3cXntFOntQ%3D%3D
-
Coude FX, Sweetman L, Nyhan WL (1979) Inhibition of propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia. J Clin Invest 64:1544-1551
-
(1979)
J Clin Invest
, vol.64
, pp. 1544-1551
-
-
Coude, F.X.1
Sweetman, L.2
Nyhan, W.L.3
-
16
-
-
72049125350
-
Cancer-associated IDH1 mutations produce 2-hydroxyglutarate
-
19935646 10.1038/nature08617 1:CAS:528:DC%2BD1MXhsVGlurzE
-
Dang L, White DW, Gross S et al (2009) Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 462:739-744
-
(2009)
Nature
, vol.462
, pp. 739-744
-
-
Dang, L.1
White, D.W.2
Gross, S.3
-
17
-
-
84870934078
-
DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria
-
23141293 10.1016/j.ajhg.2012.10.006 1:CAS:528:DC%2BC38Xhs1KjtrrK
-
Danhauser K, Sauer SW, Haack TB et al (2012) DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Am J Hum Genet 91:1082-1087
-
(2012)
Am J Hum Genet
, vol.91
, pp. 1082-1087
-
-
Danhauser, K.1
Sauer, S.W.2
Haack, T.B.3
-
18
-
-
79955690402
-
MR spectroscopy-based brain metabolite profiling in propionic acidaemia: Metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation
-
21554693 10.1186/1750-1172-6-19
-
Davison JE, Davies NP, Wilson M et al (2011) MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation. Orphanet J Rare Dis 6:19
-
(2011)
Orphanet J Rare Dis
, vol.6
, pp. 19
-
-
Davison, J.E.1
Davies, N.P.2
Wilson, M.3
-
19
-
-
70149095362
-
Multiple OXPHOS deficiency in liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria
-
19342984 10.1203/PDR.0b013e3181a7c270
-
De Keyzer Y, Valayannopoulos V, Benoist JF et al (2009) Multiple OXPHOS deficiency in liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria. Pediatr Res 66:91-95
-
(2009)
Pediatr Res
, vol.66
, pp. 91-95
-
-
De Keyzer, Y.1
Valayannopoulos, V.2
Benoist, J.F.3
-
21
-
-
0028058988
-
Contrasting effects of propionate and propionyl-L-carnitine on energy-linked processes in ischemic hearts
-
8067396
-
Di Lisa F, Menabo R, Barbato R, Siliprandi N (1994) Contrasting effects of propionate and propionyl-L-carnitine on energy-linked processes in ischemic hearts. Am J Physiol 267:H455-461
-
(1994)
Am J Physiol
, vol.267
, pp. 455-461
-
-
Di Lisa, F.1
Menabo, R.2
Barbato, R.3
Siliprandi, N.4
-
22
-
-
18944390365
-
Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion
-
15877282 10.1086/430843 1:CAS:528:DC%2BD2MXkslyitr4%3D
-
Elpeleg O, Miller C, Hershkovitz E et al (2005) Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion. Am J Hum Genet 76:1081-1086
-
(2005)
Am J Hum Genet
, vol.76
, pp. 1081-1086
-
-
Elpeleg, O.1
Miller, C.2
Hershkovitz, E.3
-
23
-
-
67650087643
-
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type i
-
19433437 10.1093/brain/awp112
-
Harting I, Neumaier-Probst E, Seitz A et al (2009) Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain 132:1764-1782
-
(2009)
Brain
, vol.132
, pp. 1764-1782
-
-
Harting, I.1
Neumaier-Probst, E.2
Seitz, A.3
-
24
-
-
0036062614
-
Cerebral dicarboxylate transport and metabolism studied with isotopically labelled fumarate, malate and malonate
-
12124442 10.1046/j.1471-4159.2002.00986.x 1:CAS:528:DC%2BD38XlslKmt7o%3D
-
Hassel B, Brathe A, Petersen D (2002) Cerebral dicarboxylate transport and metabolism studied with isotopically labelled fumarate, malate and malonate. J Neurochem 82:410-419
-
(2002)
J Neurochem
, vol.82
, pp. 410-419
-
-
Hassel, B.1
Brathe, A.2
Petersen, D.3
-
25
-
-
0020324363
-
Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic and methylmalonic acidemia: A reduction of cytochrome c oxidase activity
-
6287671 10.1620/tjem.137.329 1:STN:280:DyaL383nvVWntQ%3D%3D
-
Hayasaka K, Metoki K, Satoh T et al (1982) Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic and methylmalonic acidemia: a reduction of cytochrome c oxidase activity. Tohoku J Exp Med 137:329-334
-
(1982)
Tohoku J Exp Med
, vol.137
, pp. 329-334
-
-
Hayasaka, K.1
Metoki, K.2
Satoh, T.3
-
26
-
-
78249270079
-
Use of guidelines improves the neurological outcome in glutaric aciduria type i
-
21031586 10.1002/ana.22095
-
Heringer J, Boy NPS, Ensenauer R et al (2010) Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol 68:743-52
-
(2010)
Ann Neurol
, vol.68
, pp. 743-752
-
-
Heringer, J.1
Boy, N.P.S.2
Ensenauer, R.3
-
27
-
-
84880199056
-
Protein-dependent inborn errors of metabolism
-
D.A. Warrel T.M. Cox J.D. Firth (eds) 5 Oxford University Press Oxford 10.1093/med/9780199204854.003.1202-update-001
-
Hoffmann GF, Kölker S (2010) Protein-dependent inborn errors of metabolism. In: Warrel DA, Cox TM, Firth JD (eds) Oxford Textbook of Medicine, 5th edn. Oxford University Press, Oxford, pp 1559-1595
-
(2010)
Oxford Textbook of Medicine
, pp. 1559-1595
-
-
Hoffmann, G.F.1
Kölker, S.2
-
28
-
-
84876281615
-
Cerebral organic acid disorders and other disorders of lysine catabolism
-
J.M. Saudubray G. van den Berghe J.H. Walter (eds) 5 Springer Berlin
-
Hoffmann GF, Kölker S (2011) Cerebral organic acid disorders and other disorders of lysine catabolism. In: Saudubray JM, van den Berghe G, Walter JH (eds) Inborn Metabolic Diseases, 5th edn. Springer, Berlin, pp 333-347
-
(2011)
Inborn Metabolic Diseases
, pp. 333-347
-
-
Hoffmann, G.F.1
Kölker, S.2
-
29
-
-
69049105213
-
Dynamic organization of mitochondria in human heart and in myocardial disease
-
19446651 10.1016/j.biocel.2009.05.004 1:CAS:528:DC%2BD1MXhtVentbjK
-
Hoppel CL, Tandler B, Fujioka H, Riva A (2009) Dynamic organization of mitochondria in human heart and in myocardial disease. Int J Biochem Cell Biol 41:1949-1956
-
(2009)
Int J Biochem Cell Biol
, vol.41
, pp. 1949-1956
-
-
Hoppel, C.L.1
Tandler, B.2
Fujioka, H.3
Riva, A.4
-
31
-
-
70350294124
-
Prediction of outcome in isolated methylmalonic acidurias: Combined use of clinical and biochemical parameters
-
19642010 10.1007/s10545-009-1189-6
-
Hörster F, Garbade SF, Zwickler T et al (2009) Prediction of outcome in isolated methylmalonic acidurias: combined use of clinical and biochemical parameters. J Inherit Metab Dis 32:630-639
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 630-639
-
-
Hörster, F.1
Garbade, S.F.2
Zwickler, T.3
-
32
-
-
69249247037
-
SDH5 mutations and familial paraganglioma: Somewhere Warburg is smiling
-
19732718 10.1016/j.ccr.2009.08.013 1:CAS:528:DC%2BD1MXhsVChs7vM
-
Kaelin WG Jr (2009) SDH5 mutations and familial paraganglioma: somewhere Warburg is smiling. Cancer Cell 16:180-182
-
(2009)
Cancer Cell
, vol.16
, pp. 180-182
-
-
Kaelin, Jr.W.G.1
-
33
-
-
84859719850
-
Living-donor liver transplantation for propionic academia
-
22151065 10.1111/j.1399-3046.2011.01607.x 1:CAS:528:DC%2BC38XnsVCrs7Y%3D
-
Kasahara M, Sakamoto S, Kanazawa H et al (2012) Living-donor liver transplantation for propionic academia. Pediatr Transplant 16:230-234
-
(2012)
Pediatr Transplant
, vol.16
, pp. 230-234
-
-
Kasahara, M.1
Sakamoto, S.2
Kanazawa, H.3
-
34
-
-
0037084783
-
Biochemical, pathologic and behavioral analysis of a mouse model of glutaric academia type i
-
11854167 10.1093/hmg/11.4.347 1:CAS:528:DC%2BD38XitF2mtL0%3D
-
Koeller DM, Woontner M, Crnic LS et al (2002) Biochemical, pathologic and behavioral analysis of a mouse model of glutaric academia type I. Hum Mol Genet 11:347-357
-
(2002)
Hum Mol Genet
, vol.11
, pp. 347-357
-
-
Koeller, D.M.1
Woontner, M.2
Crnic, L.S.3
-
35
-
-
0035992221
-
+ dependence of 3-hydroxyglutarate- induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons
-
12149496
-
+ dependence Of 3-hydroxyglutarate-induced excitotoxicity in primary neuronal cultures from chick embryo telencephalons. Pediatr Res 52:199-206
-
(2002)
Pediatr Res
, vol.52
, pp. 199-206
-
-
Kölker, S.1
Köhr, G.2
Ahlemeyer, B.3
-
36
-
-
10744221377
-
Methylmalonic acid, a biochemical hallmark of methylmalonic aciduria but no inhibitor of mitochondrial respiratory chain
-
12972416 10.1074/jbc.M308861200
-
Kölker S, Schwab M, Hörster F et al (2003) Methylmalonic acid, a biochemical hallmark of methylmalonic aciduria but no inhibitor of mitochondrial respiratory chain. J Biol Chem 278:47388-47393
-
(2003)
J Biol Chem
, vol.278
, pp. 47388-47393
-
-
Kölker, S.1
Schwab, M.2
Hörster, F.3
-
37
-
-
0347319252
-
Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency
-
14705106 10.1002/ana.10784
-
Kölker S, Koeller DM, Okun JG, Hoffmann GF (2004) Pathomechanisms of neurodegeneration in glutaryl-CoA dehydrogenase deficiency. Ann Neurol 55:7-12
-
(2004)
Ann Neurol
, vol.55
, pp. 7-12
-
-
Kölker, S.1
Koeller, D.M.2
Okun, J.G.3
Hoffmann, G.F.4
-
38
-
-
33751051820
-
The aetiology of neurological complications of organic acidaemias - A role for the blood-brain barrier
-
10.1007/s10545-006-0415-8
-
Kölker S, Sauer SW, Surtees RA, Leonard JV (2006a) The aetiology of neurological complications of organic acidaemias - A role for the blood-brain barrier. J Inherit Metab Dis 29:701-704
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 701-704
-
-
Kölker, S.1
Sauer, S.W.2
Surtees, R.A.3
Leonard, J.V.4
-
39
-
-
33745106324
-
Natural history, outcome and therapeutic efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency
-
10.1203/01.pdr.0000219387.79887.86
-
Kölker S, Garbade SF, Greenberg CR et al (2006b) Natural history, outcome and therapeutic efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res 59:840-847
-
(2006)
Pediatr Res
, vol.59
, pp. 840-847
-
-
Kölker, S.1
Garbade, S.F.2
Greenberg, C.R.3
-
40
-
-
79959781632
-
Diagnosis and management of glutaric aciduria type i - Revised recommendations
-
21431622 10.1007/s10545-011-9289-5
-
Kölker S, Christensen E, Leonard JV et al (2011) Diagnosis and management of glutaric aciduria type I - revised recommendations. J Inherit Metab Dis 34:677-94
-
(2011)
J Inherit Metab Dis
, vol.34
, pp. 677-694
-
-
Kölker, S.1
Christensen, E.2
Leonard, J.V.3
-
41
-
-
84866158595
-
Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type i - A decade of experience
-
22520952 10.1016/j.ymgme.2012.03.021
-
Kölker S, Boy SP, Heringer J et al (2012) Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I - a decade of experience. Mol Genet Metab 107:72-80
-
(2012)
Mol Genet Metab
, vol.107
, pp. 72-80
-
-
Kölker, S.1
Boy, S.P.2
Heringer, J.3
-
42
-
-
84866119351
-
Clinical reasoning: A young man with progressive subcortical lesions and optic nerve atrophy
-
22891116 10.1212/WNL.0b013e3182648bb6
-
Komatsuzaki S, Sakamoto O, Fuse N, Uematsu M, Matsubara Y, Ohura T (2012) Clinical reasoning: a young man with progressive subcortical lesions and optic nerve atrophy. Neurology 79:e63-68
-
(2012)
Neurology
, vol.79
, pp. 63-68
-
-
Komatsuzaki, S.1
Sakamoto, O.2
Fuse, N.3
Uematsu, M.4
Matsubara, Y.5
Ohura, T.6
-
43
-
-
58849155005
-
Optimal clinical management of children receiving the ketogenic diet: Recommendations of the International Ketogenic Diet Study Group
-
18823325 10.1111/j.1528-1167.2008.01765.x
-
Kossoff EH, Zupec-Kania BA, Amark PE et al (2009) Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group. Epilepsia 50:304-317
-
(2009)
Epilepsia
, vol.50
, pp. 304-317
-
-
Kossoff, E.H.1
Zupec-Kania, B.A.2
Amark, P.E.3
-
44
-
-
0025836574
-
Decreased activities of ubiquinol:ferricytochrome c oxidoreductase (complex III) and ferrocytochrome c oxygen oxidoreductase (complex IV) in liver mitochondria from rats with hydroxycobalamin[c-lactam]-induced methylmalonic aciduria
-
1657942
-
Krähenbühl S, Chang M, Brass EP, Hoppel CL (1991) Decreased activities of ubiquinol:ferricytochrome c oxidoreductase (complex III) and ferrocytochrome c oxygen oxidoreductase (complex IV) in liver mitochondria from rats with hydroxycobalamin[c-lactam]-induced methylmalonic aciduria. J Biol Chem 266:20998-21003
-
(1991)
J Biol Chem
, vol.266
, pp. 20998-21003
-
-
Krähenbühl, S.1
Chang, M.2
Brass, E.P.3
Hoppel, C.L.4
-
45
-
-
84863879702
-
Progress in understanding D-2-hydroxyglutaric acidurias
-
10.1007/s10545-012-9462-5 1:CAS:528:DC%2BC38XpvVyrsrs%3D
-
Kranendijk M, Struys EA, Salomons GS, van der Knaap MS, Jakobs C (2012a) Progress in understanding D-2-hydroxyglutaric acidurias. J Inherit Metab Dis 35:571-587
-
(2012)
J Inherit Metab Dis
, vol.35
, pp. 571-587
-
-
Kranendijk, M.1
Struys, E.A.2
Salomons, G.S.3
Van Der Knaap, M.S.4
Jakobs, C.5
-
46
-
-
77957948775
-
IDH2 mutations in patients with D-2-hydroxyglutaric aciduria
-
10.1126/science.1192632
-
Kranendijk M, Struys EA, van Schaftingen E et al (2012b) IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science 330:336
-
(2012)
Science
, vol.330
, pp. 336
-
-
Kranendijk, M.1
Struys, E.A.2
Van Schaftingen, E.3
-
47
-
-
21144440614
-
Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency
-
15985591 10.1212/01.WNL.0000167428.12417.B2
-
Külkens S, Harting I, Sauer S et al (2005) Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Neurology 64:2142-2144
-
(2005)
Neurology
, vol.64
, pp. 2142-2144
-
-
Külkens, S.1
Harting, I.2
Sauer, S.3
-
48
-
-
2442646639
-
Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1
-
15120683 10.1016/j.ejpn.2003.12.007
-
Kyllerman M, Skjeldal O, Christensen E et al (2004) Long-term follow-up, neurological outcome and survival rate in 28 Nordic patients with glutaric aciduria type 1. Eur J Paediatr Neurol 8:121-129
-
(2004)
Eur J Paediatr Neurol
, vol.8
, pp. 121-129
-
-
Kyllerman, M.1
Skjeldal, O.2
Christensen, E.3
-
49
-
-
79955947736
-
Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells
-
10.1074/jbc.M111.232744
-
Lamp J, Keyser B, Koeller DM, Ullrich K, Braulke T, Mühlhausen C (2011) Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells. J Biol Chem 285:17777-17784
-
(2011)
J Biol Chem
, vol.285
, pp. 17777-17784
-
-
Lamp, J.1
Keyser, B.2
Koeller, D.M.3
Ullrich, K.4
Braulke, T.5
Mühlhausen, C.6
-
50
-
-
78951488606
-
Chronic pancreatitis in branched-chain organic acidurias - A case of methylmalonic aciduria and an overview of the literature
-
20924605 10.1007/s00431-010-1313-5
-
Marquard J, el Scheich T, Klee D et al (2011) Chronic pancreatitis in branched-chain organic acidurias - a case of methylmalonic aciduria and an overview of the literature. Eur J Pediatr 170:241-245
-
(2011)
Eur J Pediatr
, vol.170
, pp. 241-245
-
-
Marquard, J.1
El Scheich, T.2
Klee, D.3
-
51
-
-
27644551333
-
Liver transplantation for inborn errors of metabolism
-
16286891 10.1097/01.tp.0000186905.10088.e5
-
Meyburg J, Hoffmann GF (2005) Liver transplantation for inborn errors of metabolism. Transplantation 80(Suppl 1):S135-137
-
(2005)
Transplantation
, vol.80
, Issue.SUPPL. 1
, pp. 135-137
-
-
Meyburg, J.1
Hoffmann, G.F.2
-
52
-
-
40849097529
-
Methylmalonate inhibits succinate-supported oxygen consumption by interfering with mitochondrial succinate uptake
-
18213522 10.1007/s10545-007-0798-1 1:CAS:528:DC%2BD1cXivFKksLs%3D
-
Mirandola SR, Melo DR, Schuck PF, Ferreira GC, Wajner M, Castilho RF (2008) Methylmalonate inhibits succinate-supported oxygen consumption by interfering with mitochondrial succinate uptake. J Inherit Metab Dis 31:44-54
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 44-54
-
-
Mirandola, S.R.1
Melo, D.R.2
Schuck, P.F.3
Ferreira, G.C.4
Wajner, M.5
Castilho, R.F.6
-
53
-
-
0032860432
-
The selective vulnerability of striatopallidal neurons
-
10845758 10.1016/S0301-0082(99)00019-2 1:STN:280:DC%2BD3czgt1ersw%3D%3D
-
Mitchell IJ, Cooper AJ, Griffiths MR (1999) The selective vulnerability of striatopallidal neurons. Prog Neurobiol 59:691-719
-
(1999)
Prog Neurobiol
, vol.59
, pp. 691-719
-
-
Mitchell, I.J.1
Cooper, A.J.2
Griffiths, M.R.3
-
54
-
-
41949122731
-
Hereditary and acquired diseases of acyl-coenzyme A metabolism
-
18337138 10.1016/j.ymgme.2007.12.005 1:CAS:528:DC%2BD1cXkvFWnsr4%3D
-
Mitchell GA, Gauthier N, Lesimple A, Wang SP, Mamer O, Qureshi I (2008) Hereditary and acquired diseases of acyl-coenzyme A metabolism. Mol Genet Metab 94:4-15
-
(2008)
Mol Genet Metab
, vol.94
, pp. 4-15
-
-
Mitchell, G.A.1
Gauthier, N.2
Lesimple, A.3
Wang, S.P.4
Mamer, O.5
Qureshi, I.6
-
55
-
-
40749086850
-
Neurodegeneration and chronic renal failure in methylmalonic aciduria - A pathophysiological approach
-
17846917 10.1007/s10545-007-0571-5 1:CAS:528:DC%2BD1cXivFKks7k%3D
-
Morath MA, Okun JG, Müller IB et al (2008) Neurodegeneration and chronic renal failure in methylmalonic aciduria - a pathophysiological approach. J Inherit Metab Dis 31:35-43
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 35-43
-
-
Morath, M.A.1
Okun, J.G.2
Müller, I.B.3
-
56
-
-
2442692808
-
L-2-hydroxyglutaric aciduria and brain malignant tumours: A predisposing condition ?
-
15159502 10.1212/01.WNL.0000125335.21381.87 1:STN:280: DC%2BD2c3mtFOjtg%3D%3D
-
Moroni I, Bugiani M, D'Incerti L et al (2004) L-2-hydroxyglutaric aciduria and brain malignant tumours: a predisposing condition ? Neurology 62:1882-1884
-
(2004)
Neurology
, vol.62
, pp. 1882-1884
-
-
Moroni, I.1
Bugiani, M.2
D'Incerti, L.3
-
57
-
-
7244239208
-
Neuroradiological findings in glutaric aciduria type i (glutaryl-CoA dehydrogenase deficiency
-
15505394 10.1023/B:BOLI.0000045771.66300.2a 1:CAS:528: DC%2BD2cXovVOjs74%3D
-
Neumaier-Probst E, Harting I, Seitz A, Ding C, Kölker S (2004) Neuroradiological findings in glutaric aciduria type I (glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis 27:869-876
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 869-876
-
-
Neumaier-Probst, E.1
Harting, I.2
Seitz, A.3
Ding, C.4
Kölker, S.5
-
58
-
-
34247402503
-
Propionate increases neuronal histone acetylation, but is metabolized oxidatively via glia. Relevance for propionic acidemia
-
17286595 10.1111/j.1471-4159.2006.04397.x 1:CAS:528:DC%2BD2sXlsV2ksb8%3D
-
Nguyen NHT, Morland C, Gonzalez SV et al (2007) Propionate increases neuronal histone acetylation, but is metabolized oxidatively via glia. Relevance for propionic acidemia. J Neurochem 101:806-814
-
(2007)
J Neurochem
, vol.101
, pp. 806-814
-
-
Nguyen, N.H.T.1
Morland, C.2
Gonzalez, S.V.3
-
59
-
-
26444561472
-
Propionic acidemia
-
W.L. Nyhan B.A. Barshop T. Ozand (eds) 2 Hodder Education London
-
Nyhan WL, Barshop BA, Ozand PT (2005a) Propionic acidemia. In: Nyhan WL, Barshop BA, Ozand PT (eds) Atlas of metabolic diseases, 2nd edn. Hodder Education, London, pp 8-17
-
(2005)
Atlas of Metabolic Diseases
, pp. 8-17
-
-
Nyhan, W.L.1
Barshop, B.A.2
Ozand, P.T.3
-
60
-
-
26444561472
-
Methylmalonic acidemia
-
W.L. Nyhan B.A. Barshop T. Ozand (eds) 2 Hodder Education London
-
Nyhan WL, Barshop BA, Ozand PT (2005b) Methylmalonic acidemia. In: Nyhan WL, Barshop BA, Ozand PT (eds) Atlas of metabolic diseases, 2nd edn. Hodder Education, London, pp 18-29
-
(2005)
Atlas of Metabolic Diseases
, pp. 18-29
-
-
Nyhan, W.L.1
Barshop, B.A.2
Ozand, P.T.3
-
61
-
-
84861917594
-
Neurocognitive phenotype of isolated methylmalonic aciduria
-
22614770 10.1542/peds.2011-1715
-
O'Shea CJ, Sloan JL, Wiggs EA et al (2012) Neurocognitive phenotype of isolated methylmalonic aciduria. Pediatrics 129:e1541
-
(2012)
Pediatrics
, vol.129
, pp. 1541
-
-
O'Shea, C.J.1
Sloan, J.L.2
Wiggs, E.A.3
-
62
-
-
0014144167
-
Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis
-
10.1136/adc.42.225.492
-
Oberholzer VG, Levin B, Burgess A, Young WF (1967) Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis. Arch Dis Child 42:482-504
-
(1967)
Arch Dis Child
, vol.42
, pp. 482-504
-
-
Oberholzer, V.G.1
Levin, B.2
Burgess, A.3
Young, W.F.4
-
63
-
-
21244497743
-
New aspects of the blood-brain barrier transporters: Its physiological roles in the central nervous system
-
15467183 10.1248/bpb.27.1489 1:CAS:528:DC%2BD2cXhtFSit7bJ
-
Ohtsuki S (2004) New aspects of the blood-brain barrier transporters: its physiological roles in the central nervous system. Biol Pharm Bull 27:1489-1496
-
(2004)
Biol Pharm Bull
, vol.27
, pp. 1489-1496
-
-
Ohtsuki, S.1
-
64
-
-
0037177804
-
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity
-
11847233 1:CAS:528:DC%2BD38XjslSgs70%3D
-
Okun JG, Hörster F, Farkas LM et al (2002) Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem 277:14674-14680
-
(2002)
J Biol Chem
, vol.277
, pp. 14674-14680
-
-
Okun, J.G.1
Hörster, F.2
Farkas, L.M.3
-
65
-
-
33947145697
-
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations
-
17287286 10.1093/brain/awl383
-
Ostergaard E, Hansen FJ, Sorensen N et al (2007) Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. Brain 130:853-861
-
(2007)
Brain
, vol.130
, pp. 853-861
-
-
Ostergaard, E.1
Hansen, F.J.2
Sorensen, N.3
-
66
-
-
0031898769
-
Blood-brain barrier carrier-mediated transport and brain metabolism of amino acids
-
9566601 10.1023/A:1022482604276 1:CAS:528:DyaK1cXisV2rsLs%3D
-
Pardridge WM (1998) Blood-brain barrier carrier-mediated transport and brain metabolism of amino acids. Neurochem Res 23:635-644
-
(1998)
Neurochem Res
, vol.23
, pp. 635-644
-
-
Pardridge, W.M.1
-
67
-
-
0038221058
-
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency
-
12743223 10.1212/01.WNL.0000059549.70717.80 1:CAS:528: DC%2BD3sXjtVOhurs%3D
-
Pearl PL, Gibson KM, Acosta MT et al (2003) Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology 60:1413-1417
-
(2003)
Neurology
, vol.60
, pp. 1413-1417
-
-
Pearl, P.L.1
Gibson, K.M.2
Acosta, M.T.3
-
68
-
-
84863473201
-
Sweet sixteen for ANLS
-
22027938 10.1038/jcbfm.2011.149 1:CAS:528:DC%2BC38XpvVSjt7k%3D
-
Pellerin L, Magistretti PJ (2012) Sweet sixteen for ANLS. J Cereb Blood Flow Metab 32:1152-1566
-
(2012)
J Cereb Blood Flow Metab
, vol.32
, pp. 1152-1566
-
-
Pellerin, L.1
Magistretti, P.J.2
-
69
-
-
84855344181
-
Natural history of propionic acidemia
-
21986446 10.1016/j.ymgme.2011.09.022
-
Pena L, Franks J, Chapman KA et al (2011) Natural history of propionic acidemia. Mol Genet Metab 105:5-9
-
(2011)
Mol Genet Metab
, vol.105
, pp. 5-9
-
-
Pena, L.1
Franks, J.2
Chapman, K.A.3
-
70
-
-
80054748804
-
Cardiac disease in methylmalonic acidemia
-
21784454 10.1016/j.jpeds.2011.06.005
-
Prada CE, Al Jasmi F, Kirk EP et al (2011) Cardiac disease in methylmalonic acidemia. J Pediatr 159:862-864
-
(2011)
J Pediatr
, vol.159
, pp. 862-864
-
-
Prada, C.E.1
Al Jasmi, F.2
Kirk, E.P.3
-
71
-
-
77954697566
-
Isocitrate dehydrogenase 1 and 2 mutations in cancer: Alterations at a crossroads of cellular metabolism
-
20513808 10.1093/jnci/djq187 1:CAS:528:DC%2BC3cXptlegs7c%3D
-
Reitman ZJ, Yan H (2010) Isocitrate dehydrogenase 1 and 2 mutations in cancer: alterations at a crossroads of cellular metabolism. J Natl Cancer Inst 102:932-941
-
(2010)
J Natl Cancer Inst
, vol.102
, pp. 932-941
-
-
Reitman, Z.J.1
Yan, H.2
-
72
-
-
72049099057
-
Cardiomyopathies in propionic aciduria are reversible after liver transplantation
-
19818452 10.1016/j.jpeds.2009.07.002
-
Romano S, Valayannopoulos V, Touati G et al (2010) Cardiomyopathies in propionic aciduria are reversible after liver transplantation. J Pediatr 156:128-134
-
(2010)
J Pediatr
, vol.156
, pp. 128-134
-
-
Romano, S.1
Valayannopoulos, V.2
Touati, G.3
-
73
-
-
0028872674
-
Excitotoxicity and the NMDA receptor - Still lethal after eight years
-
7537407 10.1016/0166-2236(95)93869-Y 1:CAS:528:DyaK2MXjtlGiur8%3D
-
Rothman SM, Olney JW (1995) Excitotoxicity and the NMDA receptor - still lethal after eight years. Trends Neurosci 18:57-58
-
(1995)
Trends Neurosci
, vol.18
, pp. 57-58
-
-
Rothman, S.M.1
Olney, J.W.2
-
74
-
-
20444466104
-
Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency, a role for glutaryl-coenzyme A
-
15840571 10.1074/jbc.M502845200 1:CAS:528:DC%2BD2MXksl2iu7c%3D
-
Sauer SW, Okun JG, Schwab MA et al (2005) Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency, a role for glutaryl-coenzyme A. J Biol Chem 280:21830-21836
-
(2005)
J Biol Chem
, vol.280
, pp. 21830-21836
-
-
Sauer, S.W.1
Okun, J.G.2
Schwab, M.A.3
-
75
-
-
33645881325
-
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency
-
16573641 10.1111/j.1471-4159.2006.03813.x 1:CAS:528:DC%2BD28XkslCjsLs%3D
-
Sauer SW, Okun JG, Fricker G et al (2006) Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency. J Neurochem 97:899-910
-
(2006)
J Neurochem
, vol.97
, pp. 899-910
-
-
Sauer, S.W.1
Okun, J.G.2
Fricker, G.3
-
76
-
-
52949084673
-
Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism
-
18582432 10.1016/j.bbabio.2008.05.447 1:CAS:528:DC%2BD1cXhtFylsrvF
-
Sauer SW, Okun JG, Hoffmann GF, Kölker S, Morath MA (2008) Impact of short- and medium-chain organic acids, acylcarnitines, and acyl-CoAs on mitochondrial energy metabolism. Biochim Biophys Acta 1777:1276-1282
-
(2008)
Biochim Biophys Acta
, vol.1777
, pp. 1276-1282
-
-
Sauer, S.W.1
Okun, J.G.2
Hoffmann, G.F.3
Kölker, S.4
Morath, M.A.5
-
77
-
-
76949090813
-
Long-term exposure of human proximal tubule cells to hydroxycobalamin[c- lactam] as a possible model to study renal disease in methylmalonic acidurias
-
10.1007/s10545-009-1197-6
-
Sauer SW, Opp S, Haarmann A, Okun JG, Kölker S, Morath MA (2010a) Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias. J Inherit Metab Dis 32:720-727
-
(2010)
J Inherit Metab Dis
, vol.32
, pp. 720-727
-
-
Sauer, S.W.1
Opp, S.2
Haarmann, A.3
Okun, J.G.4
Kölker, S.5
Morath, M.A.6
-
78
-
-
77952242895
-
Glutaric aciduria type i and methylmalonic aciduria: Stimulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus
-
Sauer SW, Opp S, Mahringer A et al (2010b) Glutaric aciduria type I and methylmalonic aciduria: stimulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus. Biochem Biophys Acta 1802:551-560
-
(2010)
Biochem Biophys Acta
, vol.1802
, pp. 551-560
-
-
Sauer, S.W.1
Opp, S.2
Mahringer, A.3
-
79
-
-
78650692977
-
Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type i
-
20923787 10.1093/brain/awq269
-
Sauer SW, Opp S, Hoffmann GF, Koeller DM, Okun JG, Kölker S (2011) Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I. Brain 134:157-70
-
(2011)
Brain
, vol.134
, pp. 157-170
-
-
Sauer, S.W.1
Opp, S.2
Hoffmann, G.F.3
Koeller, D.M.4
Okun, J.G.5
Kölker, S.6
-
80
-
-
0031239613
-
Trafficking between glia and neurons of TCA cycle intermediates and related metabolites
-
9298852 10.1002/(SICI)1098-1136(199709)21:1<99: AID-GLIA11>3.0. CO;2-W 1:STN:280:DyaK2svkt1ejsQ%3D%3D
-
Schousboe A, Westergaard N, Waagepetersen HS, Larsson OM, Barken IJ, Sonnewald U (1997) Trafficking between glia and neurons of TCA cycle intermediates and related metabolites. Glia 21:99-105
-
(1997)
Glia
, vol.21
, pp. 99-105
-
-
Schousboe, A.1
Westergaard, N.2
Waagepetersen, H.S.3
Larsson, O.M.4
Barken, I.J.5
Sonnewald, U.6
-
81
-
-
33747167133
-
Secondary mitochondrial dysfunction in propionic aciduria: A pathogenic role for endogenous mitochondrial toxins
-
16686602 10.1042/BJ20060221 1:CAS:528:DC%2BD28XnsFWqt7w%3D
-
Schwab MA, Sauer SW, Okun JG et al (2006) Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins. Biochem J 398:107-112
-
(2006)
Biochem J
, vol.398
, pp. 107-112
-
-
Schwab, M.A.1
Sauer, S.W.2
Okun, J.G.3
-
82
-
-
79958041841
-
A safety trial of high dose glyceryl triacetate for Canavan disease
-
21474353 10.1016/j.ymgme.2011.03.012 1:CAS:528:DC%2BC3MXntV2hur8%3D
-
Segel R, Anikster Y, Zevin S et al (2011) A safety trial of high dose glyceryl triacetate for Canavan disease. Mol Genet Metab 103:203-206
-
(2011)
Mol Genet Metab
, vol.103
, pp. 203-206
-
-
Segel, R.1
Anikster, Y.2
Zevin, S.3
-
83
-
-
0001256679
-
The metabolism of the central nervous system in vivo
-
J. Field H.W. Magoun V.E. Hall (eds) II Raven New York
-
Sokoloff L (1960) The metabolism of the central nervous system in vivo. In: Field J, Magoun HW, Hall VE (eds) Handbook of Physiology, Sect 1, vol II. Raven, New York, pp 161-168
-
(1960)
Handbook of Physiology, Sect 1
, pp. 161-168
-
-
Sokoloff, L.1
-
84
-
-
67049172564
-
L-2-hydroxyglutaric aciduria: Pattern of MR imaging abnormalities in 56 patients
-
19474378 10.1148/radiol.2513080647
-
Steenweg ME, Salomons GS, Yapici Z et al (2009) L-2-hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients. Radiology 251:856-865
-
(2009)
Radiology
, vol.251
, pp. 856-865
-
-
Steenweg, M.E.1
Salomons, G.S.2
Yapici, Z.3
-
85
-
-
77955079630
-
Am overview on L-2-hydroxyglutarate dehydrogenase gene variants (L2HGDH): A genotype-phenotype study
-
20052767 10.1002/humu.21197 1:CAS:528:DC%2BC3cXlslGhtLw%3D
-
Steenweg ME, Jakobs C, Errami A et al (2010) Am overview on L-2-hydroxyglutarate dehydrogenase gene variants (L2HGDH): a genotype-phenotype study. Hum Mutat 31:380-390
-
(2010)
Hum Mutat
, vol.31
, pp. 380-390
-
-
Steenweg, M.E.1
Jakobs, C.2
Errami, A.3
-
86
-
-
74249108469
-
Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency
-
20032085 10.1093/brain/awp297
-
Strauss KA, Donnelly P, Wintermark M (2010) Cerebral haemodynamics in patients with glutaryl-coenzyme A dehydrogenase deficiency. Brain 133:76-92
-
(2010)
Brain
, vol.133
, pp. 76-92
-
-
Strauss, K.A.1
Donnelly, P.2
Wintermark, M.3
-
87
-
-
80052548284
-
Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx
-
21820344 10.1016/j.ymgme.2011.07.003 1:CAS:528:DC%2BC3MXhtFGlsLfK
-
Strauss KA, Brumbaugh J, Duffy A et al (2011) Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: focus on cerebral amino acid influx. Mol Genet Metab 104:93-106
-
(2011)
Mol Genet Metab
, vol.104
, pp. 93-106
-
-
Strauss, K.A.1
Brumbaugh, J.2
Duffy, A.3
-
89
-
-
84855356581
-
Chronic management and health supervision of individuals with propionic acidemia
-
21963082 10.1016/j.ymgme.2011.08.034 1:CAS:528:DC%2BC38XlsFWitA%3D%3D
-
Sutton VR, Chapman KA, Gropman AL et al (2012) Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab 105:26-33
-
(2012)
Mol Genet Metab
, vol.105
, pp. 26-33
-
-
Sutton, V.R.1
Chapman, K.A.2
Gropman, A.L.3
-
90
-
-
17844385036
-
L-2-hydroxyglutaric aciduria: A report of 29 patients
-
15884621
-
Topcu M, Aydin OF, Yalcinkaya C et al (2005) L-2-hydroxyglutaric aciduria: a report of 29 patients. Turk J Pediatr 47:1-7
-
(2005)
Turk J Pediatr
, vol.47
, pp. 1-7
-
-
Topcu, M.1
Aydin, O.F.2
Yalcinkaya, C.3
-
91
-
-
81755184309
-
Subacute bilateral visual loss in methylmalonic acidemia
-
21873889 10.1097/WNO.0b013e31822db480
-
Traber G, Baumgartner MR, Schwarz U, Pangalu A, Donath MY, Landau K (2011) Subacute bilateral visual loss in methylmalonic acidemia. J Neuroophthalmol 31:344-346
-
(2011)
J Neuroophthalmol
, vol.31
, pp. 344-346
-
-
Traber, G.1
Baumgartner, M.R.2
Schwarz, U.3
Pangalu, A.4
Donath, M.Y.5
Landau, K.6
-
92
-
-
79952310399
-
Disruption of mitochondrial homeostasis in organic acidurias: Insights from human and animal studies
-
21249436 10.1007/s10863-011-9324-0 1:CAS:528:DC%2BC3MXisVaju7o%3D
-
Wajner M, Goodmann SI (2011) Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies. J Bioenerg Biomembr 43:31-38
-
(2011)
J Bioenerg Biomembr
, vol.43
, pp. 31-38
-
-
Wajner, M.1
Goodmann, S.I.2
-
93
-
-
64449086828
-
Late onset optic neuropathy in methymalonic and propionic acidemia
-
19243738 10.1016/j.ajo.2008.12.024 1:CAS:528:DC%2BD1MXkslKjsrs%3D
-
Williams Z, Hurley PE, Altiparmak UE et al (2009) Late onset optic neuropathy in methymalonic and propionic acidemia. Am J Ophthalmol 147:929-933
-
(2009)
Am J Ophthalmol
, vol.147
, pp. 929-933
-
-
Williams, Z.1
Hurley, P.E.2
Altiparmak, U.E.3
-
94
-
-
78651463452
-
Oncometabolite 2-hydroxyglutarate is a competitive inhibitor of alpha-ketoglutarate-dependent dioxygenases
-
21251613 10.1016/j.ccr.2010.12.014 1:CAS:528:DC%2BC3MXpvValsQ%3D%3D
-
Xu W, Yang H, Liu Y et al (2011) Oncometabolite 2-hydroxyglutarate is a competitive inhibitor of alpha-ketoglutarate-dependent dioxygenases. Cancer Cell 19:17-30
-
(2011)
Cancer Cell
, vol.19
, pp. 17-30
-
-
Xu, W.1
Yang, H.2
Liu, Y.3
-
95
-
-
31744443837
-
Functional and molecular identification of sodium-coupled dicarboxylate transporters in rat primary cultured cerebral astrocytes and neurons
-
16524379 10.1111/j.1471-4159.2006.03720.x 1:CAS:528:DC%2BD28XjslarsL0%3D
-
Yodoya E (2006) Functional and molecular identification of sodium-coupled dicarboxylate transporters in rat primary cultured cerebral astrocytes and neurons. J Neurochem 97:162-173
-
(2006)
J Neurochem
, vol.97
, pp. 162-173
-
-
Yodoya, E.1
-
96
-
-
36048959139
-
Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type i
-
17932566 10.1172/JCI31617 1:CAS:528:DC%2BD2sXht12isrrI
-
Zinnanti WJ, Lazovic J, Housman C et al (2007) Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I. J Clin Invest 117:3258-3270
-
(2007)
J Clin Invest
, vol.117
, pp. 3258-3270
-
-
Zinnanti, W.J.1
Lazovic, J.2
Housman, C.3
|