-
1
-
-
0031663753
-
Role of hepatic fatty acid:coenzyme A ligases in the metabolism of xenobiotic carboxylic acids
-
Knights K.M. Role of hepatic fatty acid:coenzyme A ligases in the metabolism of xenobiotic carboxylic acids. Clin. Exp. Pharmacol. Physiol. 25 10 (1998) 776-782
-
(1998)
Clin. Exp. Pharmacol. Physiol.
, vol.25
, Issue.10
, pp. 776-782
-
-
Knights, K.M.1
-
2
-
-
0017175498
-
Jamaican vomiting sickness. Biochemical investigation of two cases
-
Tanaka K., Kean E.A., and Johnson B. Jamaican vomiting sickness. Biochemical investigation of two cases. N. Engl. J. Med. 295 9 (1976) 461-467
-
(1976)
N. Engl. J. Med.
, vol.295
, Issue.9
, pp. 461-467
-
-
Tanaka, K.1
Kean, E.A.2
Johnson, B.3
-
3
-
-
0026065988
-
Metabolic consequence of methylenecyclopropylglycine poisoning in rats
-
Melde K., Jackson S., Bartlett K., Sherratt H., and Shisla S. Metabolic consequence of methylenecyclopropylglycine poisoning in rats. Biochem. J. 274 (1991) 395-400
-
(1991)
Biochem. J.
, vol.274
, pp. 395-400
-
-
Melde, K.1
Jackson, S.2
Bartlett, K.3
Sherratt, H.4
Shisla, S.5
-
4
-
-
19544372226
-
Coenzyme A: back in action
-
Leonardi R., Zhang Y.M., Rock C.O., and Jackowski S. Coenzyme A: back in action. Prog. Lipid Res. 44 2-3 (2005) 125-153
-
(2005)
Prog. Lipid Res.
, vol.44
, Issue.2-3
, pp. 125-153
-
-
Leonardi, R.1
Zhang, Y.M.2
Rock, C.O.3
Jackowski, S.4
-
5
-
-
0026265115
-
Pantothenic acid in health and disease
-
Tahiliani A.G., and Beinlich C.J. Pantothenic acid in health and disease. Vitam. Horm. 46 (1991) 165-228
-
(1991)
Vitam. Horm.
, vol.46
, pp. 165-228
-
-
Tahiliani, A.G.1
Beinlich, C.J.2
-
6
-
-
0026538606
-
Amelioration of adverse effects of valproic acid on ketogenesis and liver coenzyme A metabolism by cotreatment with pantothenate and carnitine in developing mice: possible clinical significance
-
Thurston J.H., and Hauhart R.E. Amelioration of adverse effects of valproic acid on ketogenesis and liver coenzyme A metabolism by cotreatment with pantothenate and carnitine in developing mice: possible clinical significance. Pediatr. Res. 31 (1992) 419-423
-
(1992)
Pediatr. Res.
, vol.31
, pp. 419-423
-
-
Thurston, J.H.1
Hauhart, R.E.2
-
7
-
-
0033898479
-
Effect of pantothenic acid on hippurate formation in sodium benzoate-treated HepG2 cells
-
Palekar A. Effect of pantothenic acid on hippurate formation in sodium benzoate-treated HepG2 cells. Pediatr. Res. 48 3 (2000) 357-359
-
(2000)
Pediatr. Res.
, vol.48
, Issue.3
, pp. 357-359
-
-
Palekar, A.1
-
8
-
-
25444432519
-
Feedback regulation of murine pantothenate kinase 3 by coenzyme A and coenzyme A thioesters
-
Zhang Y.M., Rock C.O., and Jackowski S. Feedback regulation of murine pantothenate kinase 3 by coenzyme A and coenzyme A thioesters. J. Biol. Chem. 280 38 (2005) 32594-32601
-
(2005)
J. Biol. Chem.
, vol.280
, Issue.38
, pp. 32594-32601
-
-
Zhang, Y.M.1
Rock, C.O.2
Jackowski, S.3
-
9
-
-
1842504252
-
Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration
-
Johnson M.A., Kuo Y.M., Westaway S.K., et al. Mitochondrial localization of human PANK2 and hypotheses of secondary iron accumulation in pantothenate kinase-associated neurodegeneration. Ann. NY Acad. Sci. 1012 (2004) 282-298
-
(2004)
Ann. NY Acad. Sci.
, vol.1012
, pp. 282-298
-
-
Johnson, M.A.1
Kuo, Y.M.2
Westaway, S.K.3
-
10
-
-
0037413484
-
Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome
-
Hayflick S.J., Westaway S.K., Levinson B., et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N. Engl. J. Med. 348 1 (2003) 33-40
-
(2003)
N. Engl. J. Med.
, vol.348
, Issue.1
, pp. 33-40
-
-
Hayflick, S.J.1
Westaway, S.K.2
Levinson, B.3
-
11
-
-
12744280679
-
Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2
-
Kotzbauer P.T., Truax A.C., Trojanowski J.Q., and Lee V.M. Altered neuronal mitochondrial coenzyme A synthesis in neurodegeneration with brain iron accumulation caused by abnormal processing, stability, and catalytic activity of mutant pantothenate kinase 2. J. Neurosci. 25 3 (2005) 689-698
-
(2005)
J. Neurosci.
, vol.25
, Issue.3
, pp. 689-698
-
-
Kotzbauer, P.T.1
Truax, A.C.2
Trojanowski, J.Q.3
Lee, V.M.4
-
12
-
-
34249999964
-
Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration
-
Kuo Y.M., Hayflick S.J., and Gitschier J. Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration. J. Inherit. Metab. Dis. 30 3 (2007) 310-317
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, Issue.3
, pp. 310-317
-
-
Kuo, Y.M.1
Hayflick, S.J.2
Gitschier, J.3
-
13
-
-
0024457069
-
Dependence of mitochondrial coenzyme A uptake on the membrane electrical gradient
-
Tahiliani A.G. Dependence of mitochondrial coenzyme A uptake on the membrane electrical gradient. J. Biol. Chem. 264 31 (1989) 18426-18432
-
(1989)
J. Biol. Chem.
, vol.264
, Issue.31
, pp. 18426-18432
-
-
Tahiliani, A.G.1
-
14
-
-
0035144432
-
The yeast mitochondrial carrier Leu5p and its human homologue Graves' disease protein are required for accumulation of coenzyme A in the matrix
-
Prohl C., Pelzer W., Diekert K., et al. The yeast mitochondrial carrier Leu5p and its human homologue Graves' disease protein are required for accumulation of coenzyme A in the matrix. Mol. Cell. Biol. 21 4 (2001) 1089-1097
-
(2001)
Mol. Cell. Biol.
, vol.21
, Issue.4
, pp. 1089-1097
-
-
Prohl, C.1
Pelzer, W.2
Diekert, K.3
-
15
-
-
0017164526
-
Hepatic and cerebral coenzyme A contents after intravenous injection of coenzyme A in rats
-
Tholen H., and Mordhorst R. Hepatic and cerebral coenzyme A contents after intravenous injection of coenzyme A in rats. Experientia 32 7 (1976) 830-832
-
(1976)
Experientia
, vol.32
, Issue.7
, pp. 830-832
-
-
Tholen, H.1
Mordhorst, R.2
-
17
-
-
41949093420
-
-
http://nobelprize.org/nobel_prizes/medicine/laureates/1953/lipmann-lecture.pdf.
-
http://nobelprize.org/nobel_prizes/medicine/laureates/1953/lipmann-lecture.pdf.
-
-
-
-
18
-
-
11144220062
-
Revised nomenclature for the mammalian long-chain acyl-CoA synthetase gene family
-
Mashek D.G., Bornfeldt K.E., Coleman R.A., et al. Revised nomenclature for the mammalian long-chain acyl-CoA synthetase gene family. J. Lipid Res. 45 10 (2004) 1958-1961
-
(2004)
J. Lipid Res.
, vol.45
, Issue.10
, pp. 1958-1961
-
-
Mashek, D.G.1
Bornfeldt, K.E.2
Coleman, R.A.3
-
19
-
-
33846003510
-
Overexpression of rat long chain acyl-CoA synthetase 1 alters fatty acid metabolism in rat primary hepatocytes
-
Li L.O., Mashek D.G., An J., Doughman S.D., Newgard C.B., and Coleman R.A. Overexpression of rat long chain acyl-CoA synthetase 1 alters fatty acid metabolism in rat primary hepatocytes. J. Biol. Chem. 281 48 (2006) 37246-37255
-
(2006)
J. Biol. Chem.
, vol.281
, Issue.48
, pp. 37246-37255
-
-
Li, L.O.1
Mashek, D.G.2
An, J.3
Doughman, S.D.4
Newgard, C.B.5
Coleman, R.A.6
-
20
-
-
0034634680
-
Very long-chain acyl-CoA synthetases. Human "bubblegum" represents a new family of proteins capable of activating very long-chain fatty acids
-
Steinberg S.J., Morgenthaler J., Heinzer A.K., Smith K.D., and Watkins P.A. Very long-chain acyl-CoA synthetases. Human "bubblegum" represents a new family of proteins capable of activating very long-chain fatty acids. J. Biol. Chem. 275 45 (2000) 35162-35169
-
(2000)
J. Biol. Chem.
, vol.275
, Issue.45
, pp. 35162-35169
-
-
Steinberg, S.J.1
Morgenthaler, J.2
Heinzer, A.K.3
Smith, K.D.4
Watkins, P.A.5
-
21
-
-
11144236852
-
Mouse very long-chain acyl-CoA synthetase 3/fatty acid transport protein 3 catalyzes fatty acid activation but not fatty acid transport in MA-10 cells
-
Pei Z., Fraisl P., Berger J., Jia Z., Forss-Petter S., and Watkins P.A. Mouse very long-chain acyl-CoA synthetase 3/fatty acid transport protein 3 catalyzes fatty acid activation but not fatty acid transport in MA-10 cells. J. Biol. Chem. 279 52 (2004) 54454-54462
-
(2004)
J. Biol. Chem.
, vol.279
, Issue.52
, pp. 54454-54462
-
-
Pei, Z.1
Fraisl, P.2
Berger, J.3
Jia, Z.4
Forss-Petter, S.5
Watkins, P.A.6
-
22
-
-
0031583368
-
Purification and partial sequencing of the XL-I form of xenobiotic-metabolizing medium chain fatty acid:CoA ligase from bovine liver mitochondria, and its homology with the essential hypertension protein
-
Vessey D.A., and Kelley M. Purification and partial sequencing of the XL-I form of xenobiotic-metabolizing medium chain fatty acid:CoA ligase from bovine liver mitochondria, and its homology with the essential hypertension protein. Biochim. Biophys. Acta 1346 3 (1997) 231-236
-
(1997)
Biochim. Biophys. Acta
, vol.1346
, Issue.3
, pp. 231-236
-
-
Vessey, D.A.1
Kelley, M.2
-
23
-
-
0032806660
-
Characterization of the CoA ligases of human liver mitochondria catalyzing the activation of short- and medium-chain fatty acids and xenobiotic carboxylic acids
-
Vessey D.A., Kelley M., and Warren R.S. Characterization of the CoA ligases of human liver mitochondria catalyzing the activation of short- and medium-chain fatty acids and xenobiotic carboxylic acids. Biochim. Biophys. Acta 1428 2-3 (1999) 455-462
-
(1999)
Biochim. Biophys. Acta
, vol.1428
, Issue.2-3
, pp. 455-462
-
-
Vessey, D.A.1
Kelley, M.2
Warren, R.S.3
-
24
-
-
0037247845
-
Isolation, sequencing, and expression of a cDNA for the HXM-A form of xenobiotic/medium-chain fatty acid:CoA ligase from human liver mitochondria
-
Vessey D.A., Lau E., Kelley M., and Warren R.S. Isolation, sequencing, and expression of a cDNA for the HXM-A form of xenobiotic/medium-chain fatty acid:CoA ligase from human liver mitochondria. J. Biochem. Mol. Toxicol. 17 1 (2003) 1-6
-
(2003)
J. Biochem. Mol. Toxicol.
, vol.17
, Issue.1
, pp. 1-6
-
-
Vessey, D.A.1
Lau, E.2
Kelley, M.3
Warren, R.S.4
-
25
-
-
0035929654
-
Molecular identification and characterization of two medium-chain acyl-CoA synthetases, MACS1 and the Sa gene product
-
Fujino T., Takei Y.A., Sone H., et al. Molecular identification and characterization of two medium-chain acyl-CoA synthetases, MACS1 and the Sa gene product. J. Biol. Chem. 276 38 (2001) 35961-35966
-
(2001)
J. Biol. Chem.
, vol.276
, Issue.38
, pp. 35961-35966
-
-
Fujino, T.1
Takei, Y.A.2
Sone, H.3
-
26
-
-
33947241895
-
Chemical knockout of pantothenate kinase reveals the metabolic and genetic program responsible for hepatic coenzyme A homeostasis
-
Zhang Y.M., Chohnan S., Virga K.G., et al. Chemical knockout of pantothenate kinase reveals the metabolic and genetic program responsible for hepatic coenzyme A homeostasis. Chem. Biol. 14 3 (2007) 291-302
-
(2007)
Chem. Biol.
, vol.14
, Issue.3
, pp. 291-302
-
-
Zhang, Y.M.1
Chohnan, S.2
Virga, K.G.3
-
27
-
-
0025758907
-
A case of the Rett syndrome with acute encephalopathy induced during calcium hopantenate treatment
-
Sasaki T., Minagawa M., Yamamoto T., and Ichihashi H. A case of the Rett syndrome with acute encephalopathy induced during calcium hopantenate treatment. Brain Dev. 13 1 (1991) 52-55
-
(1991)
Brain Dev.
, vol.13
, Issue.1
, pp. 52-55
-
-
Sasaki, T.1
Minagawa, M.2
Yamamoto, T.3
Ichihashi, H.4
-
28
-
-
0025318678
-
Urinary organic acids in elderly Japanese patients with ketosis and encephalopathy who have taken panto-yl-gamma-aminobutyrate, calcium salt (calcium hopantenate, HOPA)
-
Nakanishi T., Funahashi S., Shimizu A., and Hayashi A. Urinary organic acids in elderly Japanese patients with ketosis and encephalopathy who have taken panto-yl-gamma-aminobutyrate, calcium salt (calcium hopantenate, HOPA). Clin. Chim. Acta 188 1 (1990) 85-90
-
(1990)
Clin. Chim. Acta
, vol.188
, Issue.1
, pp. 85-90
-
-
Nakanishi, T.1
Funahashi, S.2
Shimizu, A.3
Hayashi, A.4
-
29
-
-
0022839630
-
Acute encephalopathy with hyperammonemia and dicarboxylic aciduria during calcium hopantenate therapy: a patient report
-
Kimura A., Yoshida I., Ono E., et al. Acute encephalopathy with hyperammonemia and dicarboxylic aciduria during calcium hopantenate therapy: a patient report. Brain Dev. 8 6 (1986) 601-605
-
(1986)
Brain Dev.
, vol.8
, Issue.6
, pp. 601-605
-
-
Kimura, A.1
Yoshida, I.2
Ono, E.3
-
30
-
-
0026023966
-
Abnormal fatty acid metabolism in patients in hopantenate therapy during clinical episodes
-
Matsumoto M., Kuhara T., Inoue Y., Shinka T., and Matsumoto I. Abnormal fatty acid metabolism in patients in hopantenate therapy during clinical episodes. J. Chromatogr. 562 1-2 (1991) 139-145
-
(1991)
J. Chromatogr.
, vol.562
, Issue.1-2
, pp. 139-145
-
-
Matsumoto, M.1
Kuhara, T.2
Inoue, Y.3
Shinka, T.4
Matsumoto, I.5
-
31
-
-
0023942321
-
Reye-like syndrome following treatment with the pantothenic acid antagonist, calcium hopantenate
-
Noda S., Umezaki H., Yamamoto K., Araki T., Murakami T., and Ishii N. Reye-like syndrome following treatment with the pantothenic acid antagonist, calcium hopantenate. J. Neurol. Neurosurg. Psychiatry 51 4 (1988) 582-585
-
(1988)
J. Neurol. Neurosurg. Psychiatry
, vol.51
, Issue.4
, pp. 582-585
-
-
Noda, S.1
Umezaki, H.2
Yamamoto, K.3
Araki, T.4
Murakami, T.5
Ishii, N.6
-
32
-
-
0030897513
-
Role of long-chain fatty acyl-CoA esters in the regulation of metabolism and in cell signalling
-
Faergeman N.J., and Knudsen J. Role of long-chain fatty acyl-CoA esters in the regulation of metabolism and in cell signalling. Biochem. J. 323 Pt. 1 (1997) 1-12
-
(1997)
Biochem. J.
, vol.323
, Issue.PART 1
, pp. 1-12
-
-
Faergeman, N.J.1
Knudsen, J.2
-
33
-
-
0033960380
-
Role of acyl-CoA binding protein in acyl-CoA metabolism and acyl-CoA-mediated cell signaling
-
Knudsen J., Neergaard T.B., Gaigg B., Jensen M.V., and Hansen J.K. Role of acyl-CoA binding protein in acyl-CoA metabolism and acyl-CoA-mediated cell signaling. J. Nutr. 130 2S Suppl (2000) 294S-298S
-
(2000)
J. Nutr.
, vol.130
, Issue.2 S SUPPL
-
-
Knudsen, J.1
Neergaard, T.B.2
Gaigg, B.3
Jensen, M.V.4
Hansen, J.K.5
-
34
-
-
0029591341
-
Analysis of the ligand binding properties of recombinant bovine liver-type fatty acid binding protein
-
Rolf B., Oudenampsen-Kruger E., Borchers T., et al. Analysis of the ligand binding properties of recombinant bovine liver-type fatty acid binding protein. Biochim. Biophys. Acta 1259 3 (1995) 245-253
-
(1995)
Biochim. Biophys. Acta
, vol.1259
, Issue.3
, pp. 245-253
-
-
Rolf, B.1
Oudenampsen-Kruger, E.2
Borchers, T.3
-
35
-
-
0017879460
-
Inhibition of rat-liver acetyl-coenzyme-A carboxylase by palmitoyl-coenzyme A. Formation of equimolar enzyme-inhibitor complex
-
Ogiwara H., Tanabe T., Nikawa J., and Numa S. Inhibition of rat-liver acetyl-coenzyme-A carboxylase by palmitoyl-coenzyme A. Formation of equimolar enzyme-inhibitor complex. Eur. J. Biochem. 89 1 (1978) 33-41
-
(1978)
Eur. J. Biochem.
, vol.89
, Issue.1
, pp. 33-41
-
-
Ogiwara, H.1
Tanabe, T.2
Nikawa, J.3
Numa, S.4
-
36
-
-
0018791593
-
Inhibitory effects of long-chain acyl coenzyme A analogues on rat liver acetyl coenzyme A carboxylase
-
Nikawa J., Tanabe T., Ogiwara H., Shiba T., and Numa S. Inhibitory effects of long-chain acyl coenzyme A analogues on rat liver acetyl coenzyme A carboxylase. FEBS Lett. 102 2 (1979) 223-226
-
(1979)
FEBS Lett.
, vol.102
, Issue.2
, pp. 223-226
-
-
Nikawa, J.1
Tanabe, T.2
Ogiwara, H.3
Shiba, T.4
Numa, S.5
-
37
-
-
23044491553
-
Acyl-coenzyme A binding protein expression alters liver fatty acyl-coenzyme A metabolism
-
Huang H., Atshaves B.P., Frolov A., Kier A.B., and Schroeder F. Acyl-coenzyme A binding protein expression alters liver fatty acyl-coenzyme A metabolism. Biochemistry 44 30 (2005) 10282-10297
-
(2005)
Biochemistry
, vol.44
, Issue.30
, pp. 10282-10297
-
-
Huang, H.1
Atshaves, B.P.2
Frolov, A.3
Kier, A.B.4
Schroeder, F.5
-
38
-
-
0020483901
-
An improved method for isolation of mitochondria in high yields from normal, ischemic, and autolyzed rat hearts
-
Idell-Wenger J.A., Grotyohann L.W., and Neely J.R. An improved method for isolation of mitochondria in high yields from normal, ischemic, and autolyzed rat hearts. Anal. Biochem. 125 2 (1982) 269-276
-
(1982)
Anal. Biochem.
, vol.125
, Issue.2
, pp. 269-276
-
-
Idell-Wenger, J.A.1
Grotyohann, L.W.2
Neely, J.R.3
-
39
-
-
0017824474
-
Coenzyme A and carnitine distribution in normal and ischemic hearts
-
Idell-Wenger J.A., Grotyohann L.W., and Neely J.R. Coenzyme A and carnitine distribution in normal and ischemic hearts. J. Biol. Chem. 253 12 (1978) 4310-4318
-
(1978)
J. Biol. Chem.
, vol.253
, Issue.12
, pp. 4310-4318
-
-
Idell-Wenger, J.A.1
Grotyohann, L.W.2
Neely, J.R.3
-
40
-
-
0026592148
-
Rat hepatic coenzyme A is redistributed in response to mitochondrial acyl-coenzyme A accumulation
-
Brass E.P., and Ruff L.J. Rat hepatic coenzyme A is redistributed in response to mitochondrial acyl-coenzyme A accumulation. J. Nutr. 122 (1992) 2094-2100
-
(1992)
J. Nutr.
, vol.122
, pp. 2094-2100
-
-
Brass, E.P.1
Ruff, L.J.2
-
41
-
-
0013773444
-
Variations in tissue contents of coenzyme A thio esters and possible metabolic implications
-
Tubbs P.K., and Garland P.B. Variations in tissue contents of coenzyme A thio esters and possible metabolic implications. Biochem. J. 93 3 (1964) 550-557
-
(1964)
Biochem. J.
, vol.93
, Issue.3
, pp. 550-557
-
-
Tubbs, P.K.1
Garland, P.B.2
-
42
-
-
0019325901
-
Relationship between acid-soluble carnitine and coenzyme A pools in vivo
-
Brass E.P., and Hoppel C.L. Relationship between acid-soluble carnitine and coenzyme A pools in vivo. Biochem. J. 190 3 (1980) 495-504
-
(1980)
Biochem. J.
, vol.190
, Issue.3
, pp. 495-504
-
-
Brass, E.P.1
Hoppel, C.L.2
-
43
-
-
0028102328
-
Relationship between the coenzyme A and the carnitine pools in human skeletal muscle at rest and after exhaustive exercise under normoxic and acutely hypoxic conditions
-
Friolet R., Hoppeler H., and Krahenbuhl S. Relationship between the coenzyme A and the carnitine pools in human skeletal muscle at rest and after exhaustive exercise under normoxic and acutely hypoxic conditions. J. Clin. Invest. 94 4 (1994) 1490-1495
-
(1994)
J. Clin. Invest.
, vol.94
, Issue.4
, pp. 1490-1495
-
-
Friolet, R.1
Hoppeler, H.2
Krahenbuhl, S.3
-
44
-
-
0020352612
-
Regulation of the branched chain alpha-ketoacid pathway in liver
-
Corkey B.E., Martin-Requero A., Walajtys-Rode E., Williams R.J., and Williamson J.R. Regulation of the branched chain alpha-ketoacid pathway in liver. J. Biol. Chem. 257 16 (1982) 9668-9676
-
(1982)
J. Biol. Chem.
, vol.257
, Issue.16
, pp. 9668-9676
-
-
Corkey, B.E.1
Martin-Requero, A.2
Walajtys-Rode, E.3
Williams, R.J.4
Williamson, J.R.5
-
45
-
-
41949126035
-
Interactions between α-ketoisovalerate propionate and fatty acids on gluconeogenesis and ureogenesis in isolated hepatocytes
-
Walser M., and Williamson J.R. (Eds), Elsevier North Holland, Inc.
-
Williamson J.R., Martin-Requero A., Corkey B.E., Brandt M., and Rothman R. Interactions between α-ketoisovalerate propionate and fatty acids on gluconeogenesis and ureogenesis in isolated hepatocytes. In: Walser M., and Williamson J.R. (Eds). Metabolism and Clinical implications of Branched Chain Amino and Ketoacids (1981), Elsevier North Holland, Inc. 105-117
-
(1981)
Metabolism and Clinical implications of Branched Chain Amino and Ketoacids
, pp. 105-117
-
-
Williamson, J.R.1
Martin-Requero, A.2
Corkey, B.E.3
Brandt, M.4
Rothman, R.5
-
46
-
-
0032473950
-
Fatty acyl-CoA thioesters are ligands of hepatic nuclear factor-4alpha
-
Hertz R., Magenheim J., Berman I., and Bar-Tana J. Fatty acyl-CoA thioesters are ligands of hepatic nuclear factor-4alpha. Nature 392 6675 (1998) 512-516
-
(1998)
Nature
, vol.392
, Issue.6675
, pp. 512-516
-
-
Hertz, R.1
Magenheim, J.2
Berman, I.3
Bar-Tana, J.4
-
47
-
-
21644454402
-
Thioesterase activity and acyl-CoA/fatty acid cross-talk of hepatocyte nuclear factor-4{alpha}
-
Hertz R., Kalderon B., Byk T., et al. Thioesterase activity and acyl-CoA/fatty acid cross-talk of hepatocyte nuclear factor-4{alpha}. J. Biol. Chem. 280 26 (2005) 24451-24461
-
(2005)
J. Biol. Chem.
, vol.280
, Issue.26
, pp. 24451-24461
-
-
Hertz, R.1
Kalderon, B.2
Byk, T.3
-
48
-
-
33845571750
-
Role of malonyl-CoA in heart disease and the hypothalamic control of obesity
-
Folmes C.D., and Lopaschuk G.D. Role of malonyl-CoA in heart disease and the hypothalamic control of obesity. Cardiovasc. Res. 73 2 (2007) 278-287
-
(2007)
Cardiovasc. Res.
, vol.73
, Issue.2
, pp. 278-287
-
-
Folmes, C.D.1
Lopaschuk, G.D.2
-
49
-
-
11144305245
-
Malonyl-CoA and carnitine in regulation of fat oxidation in human skeletal muscle during exercise
-
Roepstorff C., Halberg N., Hillig T., et al. Malonyl-CoA and carnitine in regulation of fat oxidation in human skeletal muscle during exercise. Am. J. Physiol. Endocrinol. Metab. 288 1 (2005) E133-E142
-
(2005)
Am. J. Physiol. Endocrinol. Metab.
, vol.288
, Issue.1
-
-
Roepstorff, C.1
Halberg, N.2
Hillig, T.3
-
50
-
-
0018595957
-
Inhibition by propionyl-coenzyme A of N-acetylglutamate synthetase in rat liver mitochondria. A possible explanation for hyperammonemia in propionic and methylmalonic acidemia
-
Coude F.X., Sweetman L., and Nyhan W.L. Inhibition by 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 6 (1979) 1544-1551
-
(1979)
J. Clin. Invest.
, vol.64
, Issue.6
, pp. 1544-1551
-
-
Coude, F.X.1
Sweetman, L.2
Nyhan, W.L.3
-
51
-
-
0019441244
-
The specific inhibition of the pyruvate dehydrogenase complex from pig kidney by propionyl-CoA and isovaleryl-Co-A
-
Gregersen N. The specific inhibition of the pyruvate dehydrogenase complex from pig kidney by propionyl-CoA and isovaleryl-Co-A. Biochem. Med. 26 1 (1981) 20-27
-
(1981)
Biochem. Med.
, vol.26
, Issue.1
, pp. 20-27
-
-
Gregersen, N.1
-
52
-
-
0020086237
-
Glycine cleavage system in ketotic hyperglycinemia: a reduction of H-protein activity
-
Hayasaka K., Narisawa K., Satoh T., et al. Glycine cleavage system in ketotic hyperglycinemia: a reduction of H-protein activity. Pediatr. Res. 16 1 (1982) 5-7
-
(1982)
Pediatr. Res.
, vol.16
, Issue.1
, pp. 5-7
-
-
Hayasaka, K.1
Narisawa, K.2
Satoh, T.3
-
53
-
-
0018961027
-
Propionate inhibition of succinate:CoA ligase (GDP) and the citric acid cycle in mitochondria
-
Stumpf D.A., McAfee J., Parks J.K., and Eguren L. Propionate inhibition of succinate:CoA ligase (GDP) and the citric acid cycle in mitochondria. Pediatr. Res. 14 (1980) 1127-1131
-
(1980)
Pediatr. Res.
, vol.14
, pp. 1127-1131
-
-
Stumpf, D.A.1
McAfee, J.2
Parks, J.K.3
Eguren, L.4
-
54
-
-
0020612790
-
Inhibition of ureagenesis by valproate in rat hepatocytes. Role of N-acetylglutamate and acetyl-CoA
-
Coude F.X., Grimber G., Parvy P., Rabier D., and Petit F. Inhibition of ureagenesis by valproate in rat hepatocytes. Role of N-acetylglutamate and acetyl-CoA. Biochem. J. 216 1 (1983) 233-236
-
(1983)
Biochem. J.
, vol.216
, Issue.1
, pp. 233-236
-
-
Coude, F.X.1
Grimber, G.2
Parvy, P.3
Rabier, D.4
Petit, F.5
-
55
-
-
0021059203
-
Role of N-acetylglutamate and acetyl-CoA in the inhibition of ureagenesis by isovaleric acid in isolated rat hepatocytes
-
Coude F.X., Grimber G., Parvy P., and Rabier D. Role of N-acetylglutamate and acetyl-CoA in the inhibition of ureagenesis by isovaleric acid in isolated rat hepatocytes. Biochim. Biophys. Acta 761 1 (1983) 13-16
-
(1983)
Biochim. Biophys. Acta
, vol.761
, Issue.1
, pp. 13-16
-
-
Coude, F.X.1
Grimber, G.2
Parvy, P.3
Rabier, D.4
-
56
-
-
0020636326
-
Interactions between alpha-ketoisovalerate metabolism and the pathways of gluconeogenesis and urea synthesis in isolated hepatocytes
-
Martin-Requero A., Corkey B.E., Cerdan S., Walajtys-Rode E., Parrilla R.L., and Williamson J.R. Interactions between alpha-ketoisovalerate metabolism and the pathways of gluconeogenesis and urea synthesis in isolated hepatocytes. J. Biol. Chem. 258 6 (1983) 3673-3681
-
(1983)
J. Biol. Chem.
, vol.258
, Issue.6
, pp. 3673-3681
-
-
Martin-Requero, A.1
Corkey, B.E.2
Cerdan, S.3
Walajtys-Rode, E.4
Parrilla, R.L.5
Williamson, J.R.6
-
57
-
-
10644253401
-
The role of the carnitine system in human metabolism
-
Foster D.W. The role of the carnitine system in human metabolism. Ann. NY Acad. Sci. 1033 (2004) 1-16
-
(2004)
Ann. NY Acad. Sci.
, vol.1033
, pp. 1-16
-
-
Foster, D.W.1
-
58
-
-
0034842137
-
Carnitine transport by organic cation transporters and systemic carnitine deficiency
-
Lahjouji K., Mitchell G.A., and Qureshi I.A. Carnitine transport by organic cation transporters and systemic carnitine deficiency. Mol. Genet. Metab. 73 4 (2001) 287-297
-
(2001)
Mol. Genet. Metab.
, vol.73
, Issue.4
, pp. 287-297
-
-
Lahjouji, K.1
Mitchell, G.A.2
Qureshi, I.A.3
-
59
-
-
0027479739
-
Carnitine measurements in liver, muscle tissue, and blood in normal subjects
-
Harper P., Wadstrom C., and Cederblad G. Carnitine measurements in liver, muscle tissue, and blood in normal subjects. Clin. Chem. 39 4 (1993) 592-599
-
(1993)
Clin. Chem.
, vol.39
, Issue.4
, pp. 592-599
-
-
Harper, P.1
Wadstrom, C.2
Cederblad, G.3
-
60
-
-
0036890172
-
Pivalate-generating prodrugs and carnitine homeostasis in man
-
Brass E.P. Pivalate-generating prodrugs and carnitine homeostasis in man. Pharmacol. Rev. 54 4 (2002) 589-598
-
(2002)
Pharmacol. Rev.
, vol.54
, Issue.4
, pp. 589-598
-
-
Brass, E.P.1
-
61
-
-
4043096944
-
Redesign of carnitine acetyltransferase specificity by protein engineering
-
Cordente A.G., Lopez-Vinas E., Vazquez M.I., et al. Redesign of carnitine acetyltransferase specificity by protein engineering. J. Biol. Chem. 279 32 (2004) 33899-33908
-
(2004)
J. Biol. Chem.
, vol.279
, Issue.32
, pp. 33899-33908
-
-
Cordente, A.G.1
Lopez-Vinas, E.2
Vazquez, M.I.3
-
62
-
-
0021715660
-
L-Carnitine therapy in isovaleric acidemia
-
Roe C.R., Millington D.S., Maltby D.A., Kahler S.G., and Bohan T.P. L-Carnitine therapy in isovaleric acidemia. J. Clin. Invest. 74 6 (1984) 2290-2295
-
(1984)
J. Clin. Invest.
, vol.74
, Issue.6
, pp. 2290-2295
-
-
Roe, C.R.1
Millington, D.S.2
Maltby, D.A.3
Kahler, S.G.4
Bohan, T.P.5
-
63
-
-
0027979998
-
Intravenous l-carnitine and acetyl-l-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia
-
Van Hove J.L., Kahler S.G., Millington D.S., et al. Intravenous l-carnitine and acetyl-l-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia. Pediatr. Res. 35 1 (1994) 96-101
-
(1994)
Pediatr. Res.
, vol.35
, Issue.1
, pp. 96-101
-
-
Van Hove, J.L.1
Kahler, S.G.2
Millington, D.S.3
-
64
-
-
0021238320
-
L-Carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia
-
Roe C.R., Millington D.S., Maltby D.A., Bohan T.P., and Hoppel C.L. L-Carnitine enhances excretion of propionyl coenzyme A as propionylcarnitine in propionic acidemia. J. Clin. Invest. 73 6 (1984) 1785-1788
-
(1984)
J. Clin. Invest.
, vol.73
, Issue.6
, pp. 1785-1788
-
-
Roe, C.R.1
Millington, D.S.2
Maltby, D.A.3
Bohan, T.P.4
Hoppel, C.L.5
-
65
-
-
0023856860
-
Quantitation of the effect of l-carnitine on the levels of acid-soluble short-chain acyl-CoA and CoASH in rat heart and liver mitochondria
-
Lysiak W., Lilly K., DiLisa F., Toth P.P., and Bieber L.L. Quantitation of the effect of l-carnitine on the levels of acid-soluble short-chain acyl-CoA and CoASH in rat heart and liver mitochondria. J. Biol. Chem. 263 3 (1988) 1151-1156
-
(1988)
J. Biol. Chem.
, vol.263
, Issue.3
, pp. 1151-1156
-
-
Lysiak, W.1
Lilly, K.2
DiLisa, F.3
Toth, P.P.4
Bieber, L.L.5
-
66
-
-
0028658378
-
Purification to homogeneity of mitochondrial acyl CoA:glycine N-acyltransferase from human liver
-
Mawal Y.R., and Qureshi I.A. Purification to homogeneity of mitochondrial acyl CoA:glycine N-acyltransferase from human liver. Biochem. Biophys. Res. Commun. 205 2 (1994) 1373-1379
-
(1994)
Biochem. Biophys. Res. Commun.
, vol.205
, Issue.2
, pp. 1373-1379
-
-
Mawal, Y.R.1
Qureshi, I.A.2
-
67
-
-
0022476572
-
Acyl-CoA:glycine N-acyltransferase: organelle localization and affinity toward straight- and branched-chained acyl-CoA esters in rat liver
-
Kolvraa S., and Gregersen N. Acyl-CoA:glycine N-acyltransferase: organelle localization and affinity toward straight- and branched-chained acyl-CoA esters in rat liver. Biochem. Med. Metab. Biol. 36 1 (1986) 98-105
-
(1986)
Biochem. Med. Metab. Biol.
, vol.36
, Issue.1
, pp. 98-105
-
-
Kolvraa, S.1
Gregersen, N.2
-
68
-
-
0018787092
-
Benzoyl-coenzyme A:glycine N-acyltransferase and phenylacetyl-coenzyme A:glycine N-acyltransferase from bovine liver mitochondria. Purification and characterization
-
Nandi D.L., Lucas S.V., and Webster Jr. L.T. Benzoyl-coenzyme A:glycine N-acyltransferase and phenylacetyl-coenzyme A:glycine N-acyltransferase from bovine liver mitochondria. Purification and characterization. J. Biol. Chem. 254 15 (1979) 7230-7237
-
(1979)
J. Biol. Chem.
, vol.254
, Issue.15
, pp. 7230-7237
-
-
Nandi, D.L.1
Lucas, S.V.2
Webster Jr., L.T.3
-
69
-
-
0030657045
-
Developmental profile of mitochondrial glycine N-acyltransferase in human liver
-
Mawal Y., Paradis K., and Qureshi I.A. Developmental profile of mitochondrial glycine N-acyltransferase in human liver. J. Pediatr. 130 6 (1997) 1003-1007
-
(1997)
J. Pediatr.
, vol.130
, Issue.6
, pp. 1003-1007
-
-
Mawal, Y.1
Paradis, K.2
Qureshi, I.A.3
-
70
-
-
0020057470
-
Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion
-
Batshaw M.L., Brusilow S., Waber L., et al. Treatment of inborn errors of urea synthesis: activation of alternative pathways of waste nitrogen synthesis and excretion. N. Engl. J. Med. 306 23 (1982) 1387-1392
-
(1982)
N. Engl. J. Med.
, vol.306
, Issue.23
, pp. 1387-1392
-
-
Batshaw, M.L.1
Brusilow, S.2
Waber, L.3
-
71
-
-
0026029242
-
Phenylacetylglutamine may replace urea as a vehicle for waste nitrogen excretion
-
Brusilow S.W. Phenylacetylglutamine may replace urea as a vehicle for waste nitrogen excretion. Pediatr. Res. 29 2 (1991) 147-150
-
(1991)
Pediatr. Res.
, vol.29
, Issue.2
, pp. 147-150
-
-
Brusilow, S.W.1
-
72
-
-
0029974447
-
Chronic sodium benzoate therapy in children with inborn errors of urea synthesis: effect on carnitine metabolism and ammonia nitrogen removal
-
Feoli-Fonseca J.C., Lambert M., Mitchell G.A., et al. Chronic sodium benzoate therapy in children with inborn errors of urea synthesis: effect on carnitine metabolism and ammonia nitrogen removal. Biochem. Mol. Med. 57 1 (1996) 31-36
-
(1996)
Biochem. Mol. Med.
, vol.57
, Issue.1
, pp. 31-36
-
-
Feoli-Fonseca, J.C.1
Lambert, M.2
Mitchell, G.A.3
-
74
-
-
24344476275
-
A revised nomenclature for mammalian acyl-CoA thioesterases/hydrolases
-
Hunt M.C., Yamada J., Maltais L.J., Wright M.W., Podesta E.J., and Alexson S.E. A revised nomenclature for mammalian acyl-CoA thioesterases/hydrolases. J. Lipid Res. 46 9 (2005) 2029-2032
-
(2005)
J. Lipid Res.
, vol.46
, Issue.9
, pp. 2029-2032
-
-
Hunt, M.C.1
Yamada, J.2
Maltais, L.J.3
Wright, M.W.4
Podesta, E.J.5
Alexson, S.E.6
-
75
-
-
0036138306
-
The role acyl-CoA thioesterases play in mediating intracellular lipid metabolism
-
Hunt M.C., and Alexson S.E. The role acyl-CoA thioesterases play in mediating intracellular lipid metabolism. Prog. Lipid Res. 41 2 (2002) 99-130
-
(2002)
Prog. Lipid Res.
, vol.41
, Issue.2
, pp. 99-130
-
-
Hunt, M.C.1
Alexson, S.E.2
-
76
-
-
33748657539
-
Analysis of the mouse and human acyl-CoA thioesterase (ACOT) gene clusters shows that convergent, functional evolution results in a reduced number of human peroxisomal ACOTs
-
Hunt M.C., Rautanen A., Westin M.A., Svensson L.T., and Alexson S.E. Analysis of the mouse and human acyl-CoA thioesterase (ACOT) gene clusters shows that convergent, functional evolution results in a reduced number of human peroxisomal ACOTs. FASEB J. 20 11 (2006) 1855-1864
-
(2006)
FASEB J.
, vol.20
, Issue.11
, pp. 1855-1864
-
-
Hunt, M.C.1
Rautanen, A.2
Westin, M.A.3
Svensson, L.T.4
Alexson, S.E.5
-
77
-
-
0023790275
-
A novel type of short- and medium-chain acyl-CoA hydrolases in brown adipose tissue mitochondria
-
Alexson S.E.H., and Nedergaard J. A novel type of short- and medium-chain acyl-CoA hydrolases in brown adipose tissue mitochondria. J. Biol. Chem. 263 (1988) 13564-13571
-
(1988)
J. Biol. Chem.
, vol.263
, pp. 13564-13571
-
-
Alexson, S.E.H.1
Nedergaard, J.2
-
78
-
-
0030036294
-
Characterization and isolation of enzymes that hydrolyze short-chain acyl-CoA in rat-liver mitochondria
-
Svensson L.T., Kilpelainen S.H., Hiltunen J.K., and Alexson S.E. Characterization and isolation of enzymes that hydrolyze short-chain acyl-CoA in rat-liver mitochondria. Eur. J. Biochem. 239 2 (1996) 526-531
-
(1996)
Eur. J. Biochem.
, vol.239
, Issue.2
, pp. 526-531
-
-
Svensson, L.T.1
Kilpelainen, S.H.2
Hiltunen, J.K.3
Alexson, S.E.4
-
79
-
-
33646061646
-
Acetate generation in rat liver mitochondria; acetyl-CoA hydrolase activity is demonstrated by 3-ketoacyl-CoA thiolase
-
Yamashita H., Itsuki A., Kimoto M., Hiemori M., and Tsuji H. Acetate generation in rat liver mitochondria; acetyl-CoA hydrolase activity is demonstrated by 3-ketoacyl-CoA thiolase. Biochim. Biophys. Acta 1761 1 (2006) 17-23
-
(2006)
Biochim. Biophys. Acta
, vol.1761
, Issue.1
, pp. 17-23
-
-
Yamashita, H.1
Itsuki, A.2
Kimoto, M.3
Hiemori, M.4
Tsuji, H.5
-
80
-
-
4444311812
-
Carnitine acyltransferases and their influence on CoA pools in health and disease
-
Ramsay R.R., and Zammit V.A. Carnitine acyltransferases and their influence on CoA pools in health and disease. Mol. Aspects Med. 25 5-6 (2004) 475-493
-
(2004)
Mol. Aspects Med.
, vol.25
, Issue.5-6
, pp. 475-493
-
-
Ramsay, R.R.1
Zammit, V.A.2
-
81
-
-
0027468023
-
Methylmalonic acidemia with a severe chemical but benign clinical phenotype
-
Treacy E., Clow C., Mamer O.A., and Scriver C.R. Methylmalonic acidemia with a severe chemical but benign clinical phenotype. J. Pediatr. 122 3 (1993) 428-429
-
(1993)
J. Pediatr.
, vol.122
, Issue.3
, pp. 428-429
-
-
Treacy, E.1
Clow, C.2
Mamer, O.A.3
Scriver, C.R.4
-
82
-
-
0019961172
-
Beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations
-
Brown G.K., Hunt S.M., Scholem R., et al. Beta-hydroxyisobutyryl coenzyme A deacylase deficiency: a defect in valine metabolism associated with physical malformations. Pediatrics 70 4 (1982) 532-538
-
(1982)
Pediatrics
, vol.70
, Issue.4
, pp. 532-538
-
-
Brown, G.K.1
Hunt, S.M.2
Scholem, R.3
-
83
-
-
33845999966
-
Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration
-
Loupatty F.J., Clayton P.T., Ruiter J.P., et al. Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration. Am. J. Hum. Genet. 80 1 (2007) 195-199
-
(2007)
Am. J. Hum. Genet.
, vol.80
, Issue.1
, pp. 195-199
-
-
Loupatty, F.J.1
Clayton, P.T.2
Ruiter, J.P.3
-
84
-
-
0028335207
-
Purification and partial characterization of 3-hydroxyisobutyryl-coenzyme A hydrolase of rat liver
-
Shimomura Y., Murakami T., Fujitsuka N., et al. Purification and partial characterization of 3-hydroxyisobutyryl-coenzyme A hydrolase of rat liver. J. Biol. Chem. 269 19 (1994) 14248-14253
-
(1994)
J. Biol. Chem.
, vol.269
, Issue.19
, pp. 14248-14253
-
-
Shimomura, Y.1
Murakami, T.2
Fujitsuka, N.3
-
85
-
-
0021112564
-
Recognition, isolation, and characterization of rat liver D-methylmalonyl coenzyme A hydrolase
-
Kovachy R.J., Copley S.D., and Allen R.H. Recognition, isolation, and characterization of rat liver D-methylmalonyl coenzyme A hydrolase. J. Biol. Chem. 258 18 (1983) 11415-11421
-
(1983)
J. Biol. Chem.
, vol.258
, Issue.18
, pp. 11415-11421
-
-
Kovachy, R.J.1
Copley, S.D.2
Allen, R.H.3
-
86
-
-
0000547499
-
Clinical phenotypes: diagnosis/algorithms
-
Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill Inc., New York
-
Saudubray J.-M., and Charpentier C. Clinical phenotypes: diagnosis/algorithms. In: Scriver C.R., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2001), McGraw-Hill Inc., New York 1327-1406
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1327-1406
-
-
Saudubray, J.-M.1
Charpentier, C.2
-
87
-
-
0033497184
-
Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program
-
Sniderman L.C., Lambert M., Giguere R., et al. Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. J. Pediatr. 134 6 (1999) 675-680
-
(1999)
J. Pediatr.
, vol.134
, Issue.6
, pp. 675-680
-
-
Sniderman, L.C.1
Lambert, M.2
Giguere, R.3
-
88
-
-
10744220582
-
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening
-
Koeberl D.D., Young S.P., Gregersen N.S., et al. Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. Pediatr. Res. 54 2 (2003) 219-223
-
(2003)
Pediatr. Res.
, vol.54
, Issue.2
, pp. 219-223
-
-
Koeberl, D.D.1
Young, S.P.2
Gregersen, N.S.3
-
89
-
-
31644442104
-
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening
-
Dantas M.F., Suormala T., Randolph A., et al. 3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening. Hum. Mutat. 26 2 (2005) 164
-
(2005)
Hum. Mutat.
, vol.26
, Issue.2
, pp. 164
-
-
Dantas, M.F.1
Suormala, T.2
Randolph, A.3
-
90
-
-
12844261741
-
The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I
-
Tortorelli S., Hahn S.H., Cowan T.M., Brewster T.G., Rinaldo P., and Matern D. The urinary excretion of glutarylcarnitine is an informative tool in the biochemical diagnosis of glutaric acidemia type I. Mol. Genet. Metab. 84 2 (2005) 137-143
-
(2005)
Mol. Genet. Metab.
, vol.84
, Issue.2
, pp. 137-143
-
-
Tortorelli, S.1
Hahn, S.H.2
Cowan, T.M.3
Brewster, T.G.4
Rinaldo, P.5
Matern, D.6
-
91
-
-
0000362736
-
Hypertyrosinemia
-
Scriver C.S., Beaudet A.L., Sly W.S., and Valle D. (Eds), McGraw-Hill, New York
-
Mitchell G.A., Grompe M., Lambert M., and Tanguay R.M. Hypertyrosinemia. In: Scriver C.S., Beaudet A.L., Sly W.S., and Valle D. (Eds). The Metabolic and Molecular Bases of Inherited Disease (2001), McGraw-Hill, New York 1777-1806
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1777-1806
-
-
Mitchell, G.A.1
Grompe, M.2
Lambert, M.3
Tanguay, R.M.4
-
92
-
-
0004020471
-
-
Springer, Heidelberg
-
Fernandes J., Saudubray J.-M., Van Der Berghe G., and Walter J.H. Inborn Metabolic Diseases. 4 ed. (2006), Springer, Heidelberg
-
(2006)
Inborn Metabolic Diseases. 4 ed.
-
-
Fernandes, J.1
Saudubray, J.-M.2
Van Der Berghe, G.3
Walter, J.H.4
-
93
-
-
33751051820
-
The aetiology of neurological complications of organic acidaemias-a role for the blood-brain barrier
-
Kolker S., Sauer S.W., Surtees R.A., and Leonard J.V. The aetiology of neurological complications of organic acidaemias-a role for the blood-brain barrier. J. Inherit. Metab. Dis. 29 6 (2006) 701-704
-
(2006)
J. Inherit. Metab. Dis.
, vol.29
, Issue.6
, pp. 701-704
-
-
Kolker, S.1
Sauer, S.W.2
Surtees, R.A.3
Leonard, J.V.4
-
94
-
-
0018246928
-
Regulation of leucine and α-ketoisocaproate metabolism in skeletal muscle
-
Hutson S.M., Theodore C.C., and Harper A.E. Regulation of leucine and α-ketoisocaproate metabolism in skeletal muscle. J. Biol. Chem. 253 (1978) 8126-8133
-
(1978)
J. Biol. Chem.
, vol.253
, pp. 8126-8133
-
-
Hutson, S.M.1
Theodore, C.C.2
Harper, A.E.3
-
95
-
-
0036185881
-
Metabolic stroke in methylmalonic acidemia five years after liver transplantation
-
Chakrapani A., Sivakumar P., McKiernan P.J., and Leonard J.V. Metabolic stroke in methylmalonic acidemia five years after liver transplantation. J. Pediatr. 140 2 (2002) 261-263
-
(2002)
J. Pediatr.
, vol.140
, Issue.2
, pp. 261-263
-
-
Chakrapani, A.1
Sivakumar, P.2
McKiernan, P.J.3
Leonard, J.V.4
-
96
-
-
33750600921
-
Current role of liver transplantation for methylmalonic acidemia: a review of the literature
-
Kasahara M., Horikawa R., Tagawa M., et al. Current role of liver transplantation for methylmalonic acidemia: a review of the literature. Pediatr. Transplant 10 8 (2006) 943-947
-
(2006)
Pediatr. Transplant
, vol.10
, Issue.8
, pp. 943-947
-
-
Kasahara, M.1
Horikawa, R.2
Tagawa, M.3
-
97
-
-
0036305659
-
Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver
-
Nyhan W.L., Gargus J.J., Boyle K., Selby R., and Koch R. Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver. Eur. J. Pediatr. 161 7 (2002) 377-379
-
(2002)
Eur. J. Pediatr.
, vol.161
, Issue.7
, pp. 377-379
-
-
Nyhan, W.L.1
Gargus, J.J.2
Boyle, K.3
Selby, R.4
Koch, R.5
-
98
-
-
0032747744
-
Liver transplantation in propionic acidaemia
-
Saudubray J.M., Touati G., Delonlay P., et al. Liver transplantation in propionic acidaemia. Eur. J. Pediatr. 158 Suppl 2 (1999) S65-S69
-
(1999)
Eur. J. Pediatr.
, vol.158
, Issue.SUPPL. 2
-
-
Saudubray, J.M.1
Touati, G.2
Delonlay, P.3
-
99
-
-
34447109475
-
3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment
-
Zafeiriou D.I., Vargiami E., Mayapetek E., Augoustidou-Savvopoulou P., and Mitchell G.A. 3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment. Pediatr. Neurol. 37 1 (2007) 47-50
-
(2007)
Pediatr. Neurol.
, vol.37
, Issue.1
, pp. 47-50
-
-
Zafeiriou, D.I.1
Vargiami, E.2
Mayapetek, E.3
Augoustidou-Savvopoulou, P.4
Mitchell, G.A.5
-
100
-
-
79958079558
-
Cerebral organic acid disorders and other disorders of lysine catabolism
-
Fernandes J., Saudubray J.-M., Van Der Berghe G., and Walter J.H. (Eds), Springer, Heidelberg
-
Hoffmann G.F. Cerebral organic acid disorders and other disorders of lysine catabolism. In: Fernandes J., Saudubray J.-M., Van Der Berghe G., and Walter J.H. (Eds). Inborn Metabolic Diseases (2006), Springer, Heidelberg 293-306
-
(2006)
Inborn Metabolic Diseases
, pp. 293-306
-
-
Hoffmann, G.F.1
-
101
-
-
16844378167
-
l-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings
-
Seijo-Martinez M., Navarro C., Castro del R.M., et al. l-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings. Arch. Neurol. 62 4 (2005) 666-670
-
(2005)
Arch. Neurol.
, vol.62
, Issue.4
, pp. 666-670
-
-
Seijo-Martinez, M.1
Navarro, C.2
Castro del, R.M.3
-
102
-
-
38449091852
-
Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency
-
Lopez-Laso E., Garcia-Villoria J., Martin E., Duque P., Cano A., and Ribes A. Classic and late-onset neurological disease in two siblings with glutaryl-CoA dehydrogenase deficiency. J. Inherit. Metab. Dis. 30 6 (2007) 979
-
(2007)
J. Inherit. Metab. Dis.
, vol.30
, Issue.6
, pp. 979
-
-
Lopez-Laso, E.1
Garcia-Villoria, J.2
Martin, E.3
Duque, P.4
Cano, A.5
Ribes, A.6
-
103
-
-
0025181056
-
The use of metronidazole in management of methylmalonic and propionic acidaemias
-
Thompson G.N., Chalmers R.A., Walter J.H., et al. The use of metronidazole in management of methylmalonic and propionic acidaemias. Eur. J. Pediatr. 149 11 (1990) 792-796
-
(1990)
Eur. J. Pediatr.
, vol.149
, Issue.11
, pp. 792-796
-
-
Thompson, G.N.1
Chalmers, R.A.2
Walter, J.H.3
-
104
-
-
33747591403
-
Newborn screening: Toward a uniform screening panel and system
-
Watson M.S., Mann M.Y., Lloyd-Puryear M.A., Rinaldo P., and Howell R.R. Newborn screening: Toward a uniform screening panel and system. Executive summary. Genet. Med. 8 (2006) 1S-11S
-
(2006)
Executive summary. Genet. Med.
, vol.8
-
-
Watson, M.S.1
Mann, M.Y.2
Lloyd-Puryear, M.A.3
Rinaldo, P.4
Howell, R.R.5
|