-
1
-
-
0001362219
-
Disorders of propionate and methylmalonate metabolism
-
Scriver C., Beaudet A., Sly W., and Valle D. (Eds), McGraw-Hill, New York
-
Rosenberg L., and Fenton W. Disorders of propionate and methylmalonate metabolism. In: Scriver C., Beaudet A., Sly W., and Valle D. (Eds). The metabolic and molecular basis of inherited disease (2007), McGraw-Hill, New York 821-844
-
(2007)
The metabolic and molecular basis of inherited disease
, pp. 821-844
-
-
Rosenberg, L.1
Fenton, W.2
-
2
-
-
0017918741
-
The variability of metabolite excretion in propionicacidaemia
-
Duran M., Gompertz D., Bruivins L., Ketting D., and Wadman S. The variability of metabolite excretion in propionicacidaemia. Clinica Chimica Acta 82 (1978) 93-99
-
(1978)
Clinica Chimica Acta
, vol.82
, pp. 93-99
-
-
Duran, M.1
Gompertz, D.2
Bruivins, L.3
Ketting, D.4
Wadman, S.5
-
3
-
-
0001362219
-
Disorders of propionate and methylmalonate metabolism
-
Scriver C.R., Beaudet A.L., Sly W.S., and Vale D. (Eds), McGraw-Hill, New York
-
Fenton W.A., and Rosenberg L. Disorders of propionate and methylmalonate metabolism. In: Scriver C.R., Beaudet A.L., Sly W.S., and Vale D. (Eds). The metabolic and molecular bases of inherited disease (1995), McGraw-Hill, New York 1423-1450
-
(1995)
The metabolic and molecular bases of inherited disease
, pp. 1423-1450
-
-
Fenton, W.A.1
Rosenberg, L.2
-
4
-
-
33745103138
-
Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture
-
Touati G., Valayannopoulos V., Mention K., de Lonlay P., Jouvet P., Depondt E., et al. Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture. J Inherit Metab Dis 29 (2006) 288-298
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 288-298
-
-
Touati, G.1
Valayannopoulos, V.2
Mention, K.3
de Lonlay, P.4
Jouvet, P.5
Depondt, E.6
-
5
-
-
0028870138
-
Acute basal ganglia infarction in propionic acidemia
-
Haas R.H., Marsden D.L., Capistrano-Estrada S., Hamilton R., Grafe M.R., Wong W., et al. Acute basal ganglia infarction in propionic acidemia. J Child Neurol 10 (1995) 18-22
-
(1995)
J Child Neurol
, vol.10
, pp. 18-22
-
-
Haas, R.H.1
Marsden, D.L.2
Capistrano-Estrada, S.3
Hamilton, R.4
Grafe, M.R.5
Wong, W.6
-
6
-
-
0032888457
-
Neurologic nonmetabolic presentation of propionic acidemia
-
Nyhan W.L., Bay C., Beyer E.W., and Mazi M. Neurologic nonmetabolic presentation of propionic acidemia. Arch Neurol 56 (1999) 1143-1147
-
(1999)
Arch Neurol
, vol.56
, pp. 1143-1147
-
-
Nyhan, W.L.1
Bay, C.2
Beyer, E.W.3
Mazi, M.4
-
7
-
-
23044475283
-
Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy
-
Mardach R., Verity M.A., and Cederbaum S.D. Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy. Mol Genet Metab 85 (2005) 286-290
-
(2005)
Mol Genet Metab
, vol.85
, pp. 286-290
-
-
Mardach, R.1
Verity, M.A.2
Cederbaum, S.D.3
-
8
-
-
19444376924
-
Methylmalonic and propionic acidaemias: management and outcome
-
de Baulny H.O., Benoist J.F., Rigal O., Touati G., Rabier D., and Saudubray J.M. Methylmalonic and propionic acidaemias: management and outcome. J Inherit Metab Dis 28 (2005) 415-423
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 415-423
-
-
de Baulny, H.O.1
Benoist, J.F.2
Rigal, O.3
Touati, G.4
Rabier, D.5
Saudubray, J.M.6
-
9
-
-
33745098400
-
"′Classical" organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry
-
Dionisi-Vici C., Deodato F., Roschinger W., Rhead W., and Wilcken B. "′Classical" organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. J Inherit Metab Dis 29 (2006) 383-389
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 383-389
-
-
Dionisi-Vici, C.1
Deodato, F.2
Roschinger, W.3
Rhead, W.4
Wilcken, B.5
-
10
-
-
33846340459
-
Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia
-
Baumgartner D., Scholl-Burgi S., Sass J.O., Sperl W., Schweigmann U., Stein J.I., et al. Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia. J Pediatr 150 (2007) 192-197
-
(2007)
J Pediatr
, vol.150
, pp. 192-197
-
-
Baumgartner, D.1
Scholl-Burgi, S.2
Sass, J.O.3
Sperl, W.4
Schweigmann, U.5
Stein, J.I.6
-
11
-
-
33747167133
-
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins
-
Schwab M.A., Sauer S.W., Okun J.G., Nijtmans L.G., Rodenburg R.J., van den Heuvel L.P., et al. Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins. Biochem J 398 (2006) 107-112
-
(2006)
Biochem J
, vol.398
, pp. 107-112
-
-
Schwab, M.A.1
Sauer, S.W.2
Okun, J.G.3
Nijtmans, L.G.4
Rodenburg, R.J.5
van den Heuvel, L.P.6
-
12
-
-
0028117172
-
Pancreatitis in patients with organic acidemias
-
Kahler S.G., Sherwood W.G., Woolf D., Lawless S.T., Zaritsky A., Bonham J., et al. Pancreatitis in patients with organic acidemias. J Pediatr 124 (1994) 239-243
-
(1994)
J Pediatr
, vol.124
, pp. 239-243
-
-
Kahler, S.G.1
Sherwood, W.G.2
Woolf, D.3
Lawless, S.T.4
Zaritsky, A.5
Bonham, J.6
-
13
-
-
0027233542
-
Cardiomyopathy in propionic acidaemia
-
Massoud A.F., and Leonard J.V. Cardiomyopathy in propionic acidaemia. Eur J Pediatr 152 (1993) 441-445
-
(1993)
Eur J Pediatr
, vol.152
, pp. 441-445
-
-
Massoud, A.F.1
Leonard, J.V.2
-
14
-
-
0023839945
-
Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase
-
Chadefaux B., Augereau C., Rabier D., Rocchiccioli F., Boue J., Oury J.F., et al. Prenatal diagnosis of propionic acidemia in chorionic villi by direct assay of propionyl CoA carboxylase. Prenat Diagn 8 (1988) 161-164
-
(1988)
Prenat Diagn
, vol.8
, pp. 161-164
-
-
Chadefaux, B.1
Augereau, C.2
Rabier, D.3
Rocchiccioli, F.4
Boue, J.5
Oury, J.F.6
-
15
-
-
0025278994
-
Increased urinary metabolite excretion during fasting in disorders of propionate metabolism
-
Thompson G.N., and Chalmers R.A. Increased urinary metabolite excretion during fasting in disorders of propionate metabolism. Pediatr Res 27 (1990) 413-416
-
(1990)
Pediatr Res
, vol.27
, pp. 413-416
-
-
Thompson, G.N.1
Chalmers, R.A.2
-
16
-
-
0028366123
-
Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients
-
Lehnert W., Sperl W., Suormala T., and Baumgartner R. Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients. Eur J Pediatr 153 (1994) 68-80
-
(1994)
Eur J Pediatr
, vol.153
, pp. 68-80
-
-
Lehnert, W.1
Sperl, W.2
Suormala, T.3
Baumgartner, R.4
-
17
-
-
0003403775
-
-
Lippincott Williams & Wilkins, Philadelphia, PA
-
Rowland M., and Tozer T. Clinical pharmacokinetics, concepts and applications (1995), Lippincott Williams & Wilkins, Philadelphia, PA
-
(1995)
Clinical pharmacokinetics, concepts and applications
-
-
Rowland, M.1
Tozer, T.2
-
18
-
-
33846382672
-
Propionic acidemia: a rare cause of cardiomyopathy
-
Bhan A.K., and Brody C. Propionic acidemia: a rare cause of cardiomyopathy. Congest Heart Fail 7 (2001) 218-219
-
(2001)
Congest Heart Fail
, vol.7
, pp. 218-219
-
-
Bhan, A.K.1
Brody, C.2
-
19
-
-
0037745690
-
Potential relationship between genotype and clinical outcome in propionic acidaemia patients
-
Perez-Cerda C., Merinero B., Rodriguez-Pombo P., Perez B., Desviat L.R., Muro S., et al. Potential relationship between genotype and clinical outcome in propionic acidaemia patients. Eur J Hum Genet 8 (2000) 187-194
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 187-194
-
-
Perez-Cerda, C.1
Merinero, B.2
Rodriguez-Pombo, P.3
Perez, B.4
Desviat, L.R.5
Muro, S.6
-
20
-
-
0028829342
-
On the differences between urinary metabolite excretion and odd-numbered fatty acid production in propionic and methylmalonic acidaemias
-
Wendel U., Eissler A., Sperl W., and Schadewaldt P. On the differences between urinary metabolite excretion and odd-numbered fatty acid production in propionic and methylmalonic acidaemias. J Inherit Metab Dis 18 (1995) 584-591
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 584-591
-
-
Wendel, U.1
Eissler, A.2
Sperl, W.3
Schadewaldt, P.4
-
21
-
-
0035694455
-
Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase
-
Muro S., Perez B., Desviat L.R., Rodriguez-Pombo P., Perez-Cerda C., Clavero S., et al. Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. Mol Genet Metab 74 (2001) 476-483
-
(2001)
Mol Genet Metab
, vol.74
, pp. 476-483
-
-
Muro, S.1
Perez, B.2
Desviat, L.R.3
Rodriguez-Pombo, P.4
Perez-Cerda, C.5
Clavero, S.6
-
22
-
-
4744348392
-
Propionic acidemia: mutation update and functional and structural effects of the variant alleles
-
Desviat L.R., Perez B., Perez-Cerda C., Rodriguez-Pombo P., Clavero S., and Ugarte M. Propionic acidemia: mutation update and functional and structural effects of the variant alleles. Mol Genet Metab 83 (2004) 28-37
-
(2004)
Mol Genet Metab
, vol.83
, pp. 28-37
-
-
Desviat, L.R.1
Perez, B.2
Perez-Cerda, C.3
Rodriguez-Pombo, P.4
Clavero, S.5
Ugarte, M.6
-
23
-
-
12144289441
-
Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia
-
Yang X., Sakamoto O., Matsubara Y., Kure S., Suzuki Y., Aoki Y., et al. Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. Mol Genet Metab 81 (2004) 335-342
-
(2004)
Mol Genet Metab
, vol.81
, pp. 335-342
-
-
Yang, X.1
Sakamoto, O.2
Matsubara, Y.3
Kure, S.4
Suzuki, Y.5
Aoki, Y.6
-
24
-
-
3242799842
-
Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia
-
Michel S.J., Given II C.A., and Robertson Jr. W.C. Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia. Pediatr Radiol 34 (2004) 580-582
-
(2004)
Pediatr Radiol
, vol.34
, pp. 580-582
-
-
Michel, S.J.1
Given II, C.A.2
Robertson Jr., W.C.3
-
25
-
-
0016717991
-
Effect of 2-methylcitrate on citrate metabolism: implications for the management of patients with propionic acidemia and methylmalonic aciduria
-
Cheema-Dhadli S., Leznoff C.C., and Halperin M.L. Effect of 2-methylcitrate on citrate metabolism: implications for the management of patients with propionic acidemia and methylmalonic aciduria. Pediatr Res 9 (1975) 905-908
-
(1975)
Pediatr Res
, vol.9
, pp. 905-908
-
-
Cheema-Dhadli, S.1
Leznoff, C.C.2
Halperin, M.L.3
-
26
-
-
0031841091
-
Methylmalonate toxicity in primary neuronal cultures
-
McLaughlin B.A., Nelson D., Silver I.A., Erecinska M., and Chesselet M.F. Methylmalonate toxicity in primary neuronal cultures. Neuroscience 86 (1998) 279-290
-
(1998)
Neuroscience
, vol.86
, pp. 279-290
-
-
McLaughlin, B.A.1
Nelson, D.2
Silver, I.A.3
Erecinska, M.4
Chesselet, M.F.5
-
27
-
-
18344376530
-
Inhibition of the mitochondrial respiratory chain complex activities in rat cerebral cortex by methylmalonic acid
-
Brusque A.M., Borba Rosa R., Schuck P.F., Dalcin K.B., Ribeiro C.A., Silva C.G., et al. Inhibition of the mitochondrial respiratory chain complex activities in rat cerebral cortex by methylmalonic acid. Neurochem Int 40 (2002) 593-601
-
(2002)
Neurochem Int
, vol.40
, pp. 593-601
-
-
Brusque, A.M.1
Borba Rosa, R.2
Schuck, P.F.3
Dalcin, K.B.4
Ribeiro, C.A.5
Silva, C.G.6
-
28
-
-
0037177804
-
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity
-
Okun J.G., Horster F., Farkas L.M., Feyh P., Hinz A., Sauer S., et al. Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem 277 (2002) 14674-14680
-
(2002)
J Biol Chem
, vol.277
, pp. 14674-14680
-
-
Okun, J.G.1
Horster, F.2
Farkas, L.M.3
Feyh, P.4
Hinz, A.5
Sauer, S.6
-
29
-
-
3442889456
-
On the mechanism of action of the antifungal agent propionate
-
Brock M., and Buckel W. On the mechanism of action of the antifungal agent propionate. Eur J Biochem 271 (2004) 3227-3241
-
(2004)
Eur J Biochem
, vol.271
, pp. 3227-3241
-
-
Brock, M.1
Buckel, W.2
-
30
-
-
40849097529
-
Methylmalonate inhibits succinate-supported oxygen consumption by interfering with mitochondrial succinate uptake
-
Mirandola S.R., Melo D.R., Schuck P.F., Ferreira G.C., Wajner M., and Castilho R.F. Methylmalonate inhibits succinate-supported oxygen consumption by interfering with mitochondrial succinate uptake. J Inherit Metab Dis 31 (2008) 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
-
31
-
-
40749086850
-
Neurodegeneration and chronic renal failure in methylmalonic aciduria-a pathophysiological approach
-
Morath M.A., Okun J.G., Muller I.B., Sauer S.W., Horster F., Hoffmann G.F., et al. Neurodegeneration and chronic renal failure in methylmalonic aciduria-a pathophysiological approach. J Inherit Metab Dis 31 (2008) 35-43
-
(2008)
J Inherit Metab Dis
, vol.31
, pp. 35-43
-
-
Morath, M.A.1
Okun, J.G.2
Muller, I.B.3
Sauer, S.W.4
Horster, F.5
Hoffmann, G.F.6
-
32
-
-
0020712303
-
Tricarboxylic acid cycle metabolites during ischemia in isolated perfused rat heart
-
Peuhkurinen K.J., Takala T.E., Nuutinen E.M., and Hassinen I.E. Tricarboxylic acid cycle metabolites during ischemia in isolated perfused rat heart. Am J Physiol 244 (1983) H281-H288
-
(1983)
Am J Physiol
, vol.244
-
-
Peuhkurinen, K.J.1
Takala, T.E.2
Nuutinen, E.M.3
Hassinen, I.E.4
-
33
-
-
0026317455
-
Pyruvate carboxylation prevents the decline in contractile function of rat hearts oxidizing acetoacetate
-
Russell III R.R., and Taegtmeyer H. Pyruvate carboxylation prevents the decline in contractile function of rat hearts oxidizing acetoacetate. Am J Physiol 261 (1991) H1756-H1762
-
(1991)
Am J Physiol
, vol.261
-
-
Russell III, R.R.1
Taegtmeyer, H.2
-
34
-
-
0026065784
-
Changes in citric acid cycle flux and anaplerosis antedate the functional decline in isolated rat hearts utilizing acetoacetate
-
Russell III R.R., and Taegtmeyer H. Changes in citric acid cycle flux and anaplerosis antedate the functional decline in isolated rat hearts utilizing acetoacetate. J Clin Invest 87 (1991) 384-390
-
(1991)
J Clin Invest
, vol.87
, pp. 384-390
-
-
Russell III, R.R.1
Taegtmeyer, H.2
-
35
-
-
0028318106
-
Metabolic effects of propionate, hexanoate and propionylcarnitine in normoxia, ischaemia and reperfusion. Does an anaplerotic substrate protect the ischaemic myocardium?
-
Sundqvist K.E., Vuorinen K.H., Peuhkurinen K.J., and Hassinen I.E. Metabolic effects of propionate, hexanoate and propionylcarnitine in normoxia, ischaemia and reperfusion. Does an anaplerotic substrate protect the ischaemic myocardium?. Eur Heart J 15 (1994) 561-570
-
(1994)
Eur Heart J
, vol.15
, pp. 561-570
-
-
Sundqvist, K.E.1
Vuorinen, K.H.2
Peuhkurinen, K.J.3
Hassinen, I.E.4
-
36
-
-
0028857578
-
Propionyl-L-carnitine-mediated improvement in contractile function of rat hearts oxidizing acetoacetate
-
Russell III R.R., Mommessin J.I., and Taegtmeyer H. Propionyl-L-carnitine-mediated improvement in contractile function of rat hearts oxidizing acetoacetate. Am J Physiol 268 (1995) H441-H447
-
(1995)
Am J Physiol
, vol.268
-
-
Russell III, R.R.1
Mommessin, J.I.2
Taegtmeyer, H.3
-
37
-
-
0034036980
-
Anaplerosis of the citric acid cycle: role in energy metabolism of heart and skeletal muscle
-
Gibala M.J., Young M.E., and Taegtmeyer H. Anaplerosis of the citric acid cycle: role in energy metabolism of heart and skeletal muscle. Acta Physiol Scand 168 (2000) 657-665
-
(2000)
Acta Physiol Scand
, vol.168
, pp. 657-665
-
-
Gibala, M.J.1
Young, M.E.2
Taegtmeyer, H.3
-
38
-
-
0142089740
-
Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food
-
Yannicelli S., Acosta P.B., Velazquez A., Bock H.G., Marriage B., Kurczynski T.W., et al. Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food. Mol Genet Metab 80 (2003) 181-188
-
(2003)
Mol Genet Metab
, vol.80
, pp. 181-188
-
-
Yannicelli, S.1
Acosta, P.B.2
Velazquez, A.3
Bock, H.G.4
Marriage, B.5
Kurczynski, T.W.6
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