-
1
-
-
0032729717
-
Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children
-
Bonnet D, Martin D, Pascale De L et al. (1999) Arrhythmias and conduction defects as presenting symptoms of fatty acid oxidation disorders in children. Circulation 100:2248-2253
-
(1999)
Circulation
, vol.100
, pp. 2248-2253
-
-
Bonnet, D.1
Martin, D.2
Pascale De, L.3
-
2
-
-
35348860747
-
The fatty acid transport protein (FATP) family: Very long chain acyl-CoA synthetases or solute carriers?
-
Jia Z, Pei Z, Maiguel D et al. (2007) The fatty acid transport protein (FATP) family: very long chain acyl-CoA synthetases or solute carriers? J Mol Neurosci 33:25-31
-
(2007)
J Mol Neurosci
, vol.33
, pp. 25-31
-
-
Jia, Z.1
Pei, Z.2
Maiguel, D.3
-
3
-
-
3743108265
-
A defect in the transport of long-chain fatty acids associated with acute liver failure
-
Odaib AA, Shneider BL, Bennett MJ et al. (1998) A defect in the transport of long-chain fatty acids associated with acute liver failure. N Engl J Med 339:1752-1757
-
(1998)
N Engl J Med
, vol.339
, pp. 1752-1757
-
-
Odaib, A.A.1
Shneider, B.L.2
Bennett, M.J.3
-
4
-
-
0025995690
-
Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
-
Stanley CA, DeLeeuw S, Coates PM et al. (1991) Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake. Ann Neurol 30:709-716
-
(1991)
Ann Neurol
, vol.30
, pp. 709-716
-
-
Stanley, C.A.1
Deleeuw, S.2
Coates, P.M.3
-
5
-
-
33748710253
-
Carnitine transporter defect: Diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants
-
Vijay S, Patterson A, Olpin S et al. (2006) Carnitine transporter defect: diagnosis in asymptomatic adult women following analysis of acylcarnitines in their newborn infants. J Inherit Metab Dis 29:627-630
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 627-630
-
-
Vijay, S.1
Patterson, A.2
Olpin, S.3
-
6
-
-
0035107321
-
Features of carnitine palmitoyltransferase type I deficiency
-
Olpin SE, Allen J, Bonham JR et al. (2001) Features of carnitine palmitoyltransferase type I deficiency. J Inherit Metab Dis 24:35-42
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 35-42
-
-
Olpin, S.E.1
Allen, J.2
Bonham, J.R.3
-
7
-
-
0026689498
-
Brief report: Renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency
-
Falik-Borenstein ZC, Jordan SC, Saudubray JM et al. (1992) Brief report: renal tubular acidosis in carnitine palmitoyltransferase type 1 deficiency. N Engl J Med 327:24-27
-
(1992)
N Engl J Med
, vol.327
, pp. 24-27
-
-
Falik-Borenstein, Z.C.1
Jordan, S.C.2
Saudubray, J.M.3
-
8
-
-
61849127281
-
The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations
-
Greenberg CR, Dilling LA, Thompson GR et al. (2009) The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations. Mol Genet Metab 96:201-207
-
(2009)
Mol Genet Metab
, vol.96
, pp. 201-207
-
-
Greenberg, C.R.1
Dilling, L.A.2
Thompson, G.R.3
-
9
-
-
0026703357
-
Brief report: A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane
-
Stanley CA, Hale DE, Berry GT et al. (1992) Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N Engl J Med 327:19-23
-
(1992)
N Engl J Med
, vol.327
, pp. 19-23
-
-
Stanley, C.A.1
Hale, D.E.2
Berry, G.T.3
-
10
-
-
0027513206
-
Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts
-
Pande SV, Brivet M, Slama A et al. (1993) Carnitine-acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. Translocase assay in permeabilized fibroblasts. J Clin Invest 91:1247-1252
-
(1993)
J Clin Invest
, vol.91
, pp. 1247-1252
-
-
Pande, S.V.1
Brivet, M.2
Slama, A.3
-
11
-
-
0031940967
-
A patient with carnitine- acylcarnitine translocase deficiency with a mild phenotype
-
Morris AA, Olpin SE, Brivet M et al. (1998) A patient with carnitine- acylcarnitine translocase deficiency with a mild phenotype. J Pediatr 132:514-516
-
(1998)
J Pediatr
, vol.132
, pp. 514-516
-
-
Morris, A.A.1
Olpin, S.E.2
Brivet, M.3
-
12
-
-
0015800677
-
Muscle carnitine palmityltransferase deficiency and myoglobinuria
-
DiMauro S, DiMauro PM (1973) Muscle carnitine palmityltransferase deficiency and myoglobinuria. Science 182:929-931
-
(1973)
Science
, vol.182
, pp. 929-931
-
-
Dimauro, S.1
Dimauro, P.M.2
-
13
-
-
0029080735
-
Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys
-
North KN, Hoppel CL, De Girolami U et al. (1995) Lethal neonatal deficiency of carnitine palmitoyltransferase II associated with dysgenesis of the brain and kidneys. J Pediatr 127:414-420
-
(1995)
J Pediatr
, vol.127
, pp. 414-420
-
-
North, K.N.1
Hoppel, C.L.2
De Girolami, U.3
-
14
-
-
0025906746
-
Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies
-
Demaugre F, Bonnefont JP, Colonna M et al. (1991) Infantile form of carnitine palmitoyltransferase II deficiency with hepatomuscular symptoms and sudden death. Physiopathological approach to carnitine palmitoyltransferase II deficiencies. J Clin Invest 87:859-864
-
(1991)
J Clin Invest
, vol.87
, pp. 859-864
-
-
Demaugre, F.1
Bonnefont, J.P.2
Colonna, M.3
-
15
-
-
0033069578
-
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency
-
Andresen BS, Olpin S, Poorthuis BJ et al. (1999) Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 64:479-494
-
(1999)
Am J Hum Genet
, vol.64
, pp. 479-494
-
-
Andresen, B.S.1
Olpin, S.2
Poorthuis, B.J.3
-
16
-
-
0028221809
-
Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria
-
Ogilvie I, Pourfarzam M, Jackson S et al. (1994) Very long-chain acyl coenzyme A dehydrogenase deficiency presenting with exercise-induced myoglobinuria. Neurology 44:467-473
-
(1994)
Neurology
, vol.44
, pp. 467-473
-
-
Ogilvie, I.1
Pourfarzam, M.2
Jackson, S.3
-
17
-
-
0030175496
-
Very long chain acyl-CoA dehydrogenase deficiency: Successful treatment of acute cardiomyopathy
-
Brown-Harrison MC, Nada MA, Sprecher H et al. (1996) Very long chain acyl-CoA dehydrogenase deficiency: successful treatment of acute cardiomyopathy. Biochem Mol Med 58:59-65
-
(1996)
Biochem Mol Med
, vol.58
, pp. 59-65
-
-
Brown-Harrison, M.C.1
Nada, M.A.2
Sprecher, H.3
-
18
-
-
77956392718
-
Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: The value of second-tier enzyme testing
-
Spiekerkoetter U, Haussmann U, Mueller M et al. (2010) Tandem mass spectrometry screening for very long-chain acyl-CoA dehydrogenase deficiency: the value of second-tier enzyme testing. J Pediatr 157:668-673
-
(2010)
J Pediatr
, vol.157
, pp. 668-673
-
-
Spiekerkoetter, U.1
Haussmann, U.2
Mueller, M.3
-
19
-
-
0036140895
-
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Clinical presentation and follow-up of 50 patients
-
Den Boer ME, Wanders RJ, Morris AA et al. (2002) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical presentation and follow-up of 50 patients. Pediatrics 109:99-104
-
(2002)
Pediatrics
, vol.109
, pp. 99-104
-
-
Den Boer, M.E.1
Wanders, R.J.2
Morris, A.A.3
-
20
-
-
0030816840
-
Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation
-
Tyni T, Rapola J, Palotie A et al. (1997) Hypoparathyroidism in a patient with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency caused by the G1528C mutation. J Pediatr 131:766-768
-
(1997)
J Pediatr
, vol.131
, pp. 766-768
-
-
Tyni, T.1
Rapola, J.2
Palotie, A.3
-
21
-
-
0031956979
-
Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: A new type of hereditary metabolic chorioretinopathy
-
Tyni T, Kivela T, Lappi M et al. (1998) Ophthalmologic findings in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation: a new type of hereditary metabolic chorioretinopathy. Ophthalmology 105:810-824
-
(1998)
Ophthalmology
, vol.105
, pp. 810-824
-
-
Tyni, T.1
Kivela, T.2
Lappi, M.3
-
22
-
-
1642474359
-
General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover
-
Spiekerkoetter U, Khuchua Z, Yue Z et al. (2004) General mitochondrial trifunctional protein (TFP) deficiency as a result of either alpha- or beta-subunit mutations exhibits similar phenotypes because mutations in either subunit alter TFP complex expression and subunit turnover. Pediatr Res 55:190-196
-
(2004)
Pediatr Res
, vol.55
, pp. 190-196
-
-
Spiekerkoetter, U.1
Khuchua, Z.2
Yue, Z.3
-
23
-
-
0029907842
-
Trifunctional enzyme deficiency: Adult presentation of a usually fatal beta-oxidation defect
-
Schaefer J, Jackson S, Dick DJ et al. (1996) Trifunctional enzyme deficiency: adult presentation of a usually fatal beta-oxidation defect. Ann Neurol 40:597-602
-
(1996)
Ann Neurol
, vol.40
, pp. 597-602
-
-
Schaefer, J.1
Jackson, S.2
Dick, D.J.3
-
24
-
-
0027409820
-
Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency
-
Wilcken B, Leung KC, Hammond J et al. (1993) Pregnancy and fetal long-chain 3-hydroxyacyl coenzyme A dehydrogenase deficiency. Lancet 341:407-408
-
(1993)
Lancet
, vol.341
, pp. 407-408
-
-
Wilcken, B.1
Leung, K.C.2
Hammond, J.3
-
25
-
-
0035968582
-
Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency
-
Pourfarzam M, Morris A, Appleton M et al. (2001) Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. Lancet 358:1063-1064
-
(2001)
Lancet
, vol.358
, pp. 1063-1064
-
-
Pourfarzam, M.1
Morris, A.2
Appleton, M.3
-
26
-
-
0034985656
-
Mediumchain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency
-
Andresen BS, Dobrowolski SF, O’Reilly L et al. (2001) Mediumchain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency. Am J Hum Genet 68:1408-1418
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1408-1418
-
-
Andresen, B.S.1
Dobrowolski, S.F.2
O’Reilly, L.3
-
27
-
-
33845897373
-
Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: A cohort study
-
Wilcken B, Haas M, Joy P et al. (2007) Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study. Lancet 369:37-42
-
(2007)
Lancet
, vol.369
, pp. 37-42
-
-
Wilcken, B.1
Haas, M.2
Joy, P.3
-
28
-
-
0027440985
-
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency
-
Wilcken B, Carpenter KH, Hammond J (1993) Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. Arch Dis Child 69:292-294
-
(1993)
Arch Dis Child
, vol.69
, pp. 292-294
-
-
Wilcken, B.1
Carpenter, K.H.2
Hammond, J.3
-
29
-
-
33847796180
-
Late presentation of medium-chain acyl-CoA dehydrogenase deficiency
-
Mayell SJ, Edwards L, Reynolds FE et al. (2007) Late presentation of medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 30:104
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 104
-
-
Mayell, S.J.1
Edwards, L.2
Reynolds, F.E.3
-
30
-
-
0030779165
-
Medium chain 3-ketoacyl- coenzyme A thiolase deficiency: A new disorder of mitochondrial fatty acid beta-oxidation
-
Kamijo T, Indo Y, Souri M et al. (1997) Medium chain 3-ketoacyl- coenzyme A thiolase deficiency: a new disorder of mitochondrial fatty acid beta-oxidation. Pediatr Res 42:569-576
-
(1997)
Pediatr Res
, vol.42
, pp. 569-576
-
-
Kamijo, T.1
Indo, Y.2
Souri, M.3
-
31
-
-
33747597603
-
Clinical, biochemical, and genetic heterogeneity in short-chain acylcoenzyme A dehydrogenase deficiency
-
Maldegem v BT, Duran M, Wanders RJ et al. (2006) Clinical, biochemical, and genetic heterogeneity in short-chain acylcoenzyme A dehydrogenase deficiency. JAMA 296:943-952
-
(2006)
JAMA
, vol.296
, pp. 943-952
-
-
Maldegem V, B.T.1
Duran, M.2
Wanders, R.J.3
-
32
-
-
0034902277
-
Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion
-
Clayton PT, Eaton S, Aynsley-Green A et al. (2001) Hyperinsulinism in short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency reveals the importance of beta-oxidation in insulin secretion. J Clin Invest 108:457-465
-
(2001)
J Clin Invest
, vol.108
, pp. 457-465
-
-
Clayton, P.T.1
Eaton, S.2
Aynsley-Green, A.3
-
33
-
-
77957760755
-
Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase
-
Li C, Chen P, Palladino A et al. (2010) Mechanism of hyperinsulinism in short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency involves activation of glutamate dehydrogenase. J Biol Chem 285:31806-31818
-
(2010)
J Biol Chem
, vol.285
, pp. 31806-31818
-
-
Li, C.1
Chen, P.2
Palladino, A.3
-
34
-
-
33747006635
-
Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase
-
Bennett MJ, Russell LK, Tokunaga C et al. (2006) Reye-like syndrome resulting from novel missense mutations in mitochondrial medium- and short-chain l-3-hydroxy-acyl-CoA dehydrogenase. Mol Genet Metab 89:74-79
-
(2006)
Mol Genet Metab
, vol.89
, pp. 74-79
-
-
Bennett, M.J.1
Russell, L.K.2
Tokunaga, C.3
-
35
-
-
77956318447
-
Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I
-
Nouws J, Nijtmans L, Houten SM et al. (2010) Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. Cell Metab 12:283-294
-
(2010)
Cell Metab
, vol.12
, pp. 283-294
-
-
Nouws, J.1
Nijtmans, L.2
Houten, S.M.3
-
36
-
-
78649474742
-
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet 42:1131-1134 [36b] Sufrie KRS, Karunanidhi AK, Mohsen WM et al. (2011) Long Chain Acyl-CoA dehydrogenase deficiency: A new inborn of metabolism manifesting as congenital surfactant deficiency. S
-
Haack TB, Danhauser K, Haberberger B et al. (2010) Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Nat Genet 42:1131-1134 [36b] Sufrie KRS, Karunanidhi AK, Mohsen WM et al. (2011) Long Chain Acyl-CoA dehydrogenase deficiency: a new inborn of metabolism manifesting as congenital surfactant deficiency. S. Inherit Metab Dis 34 (Suppl 3) S149 (abstract)
-
(2010)
Inherit Metab Dis
, vol.34
-
-
Haack, T.B.1
Danhauser, K.2
Haberberger, B.3
-
37
-
-
0025277176
-
2,4-Dienoylcoenzyme A reductase deficiency: A possible new disorder of fatty acid oxidation
-
Roe CR, Millington DS, Norwood DL et al. (1990) 2,4-Dienoylcoenzyme A reductase deficiency: a possible new disorder of fatty acid oxidation. J Clin Invest 85:1703-1707
-
(1990)
J Clin Invest
, vol.85
, pp. 1703-1707
-
-
Roe, C.R.1
Millington, D.S.2
Norwood, D.L.3
-
38
-
-
0023700730
-
Glutaric acidemia type II.Comparison of pathologic features in two infants
-
Colevas AD, Edwards JL, Hruban RH et al. (1988) Glutaric acidemia type II.Comparison of pathologic features in two infants. Arch Pathol Lab Med 112:1133-1139
-
(1988)
Arch Pathol Lab Med
, vol.112
, pp. 1133-1139
-
-
Colevas, A.D.1
Edwards, J.L.2
Hruban, R.H.3
-
39
-
-
34547809952
-
ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
-
Olsen RK, Olpin SE, Andresen BS et al. (2007) ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain 130:2045-2054
-
(2007)
Brain
, vol.130
, pp. 2045-2054
-
-
Olsen, R.K.1
Olpin, S.E.2
Resen, B.S.3
-
40
-
-
0242348802
-
D, l-3-Hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD)
-
Hove v JL, Grunewald S, Jaeken J et al. (2003) d, l-3-Hydroxybutyrate treatment of multiple acyl-CoA dehydrogenase deficiency (MADD). Lancet 361:1433-1435
-
(2003)
Lancet
, vol.361
, pp. 1433-1435
-
-
Hove V, J.L.1
Grunewald, S.2
Jaeken, J.3
-
41
-
-
79955911658
-
Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: A new inborn error of metabolism with potential treatment
-
Bosch AM, Abeling NG, IJlst L et al. (2011) Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. J Inherit Metab Dis 34:165-171
-
(2011)
J Inherit Metab Dis
, vol.34
, pp. 165-171
-
-
Bosch, A.M.1
Abeling, N.G.2
Ijlst, L.3
-
42
-
-
78650443606
-
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B
-
Ho G, Yonezawa A, Masuda S et al. (2011) Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B. Hum Mutat 32:E1976-1984
-
(2011)
Hum Mutat
, vol.32
, pp. E1976-E1984
-
-
Ho, G.1
Yonezawa, A.2
Masuda, S.3
-
43
-
-
46249131371
-
Disturbed hepatic carbohydrate management during high metabolic demand in medium-chain acyl-CoA dehydrogenase (MCAD)-deficient mice
-
Herrema H, Derks TG, Dijk v TH et al. (2008) Disturbed hepatic carbohydrate management during high metabolic demand in medium-chain acyl-CoA dehydrogenase (MCAD)-deficient mice. Hepatology 47:1894-1904
-
(2008)
Hepatology
, vol.47
, pp. 1894-1904
-
-
Herrema, H.1
Derks, T.G.2
Dijk V, T.H.3
-
44
-
-
0035112892
-
Fasting medium chain acyl-coenzyme A dehydrogenase--deficient children can make ketones
-
Fletcher JM, Pitt JJ (2001) Fasting medium chain acyl-coenzyme A dehydrogenase--deficient children can make ketones. Metabolism 50:161-165
-
(2001)
Metabolism
, vol.50
, pp. 161-165
-
-
Fletcher, J.M.1
Pitt, J.J.2
-
45
-
-
0031752337
-
Lactic acidosis in long-chain fatty acid beta-oxidation disorders
-
Ventura FV, Ruiter JP, L IJ et al. (1998) Lactic acidosis in long-chain fatty acid beta-oxidation disorders. J Inherit Metab Dis 21:645-654
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 645-654
-
-
Ventura, F.V.1
Ruiter, J.P.2
Ij, L.3
-
46
-
-
0024551414
-
Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation
-
Corr PB, Creer MH, Yamada KA et al. (1989) Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation. J Clin Invest 83:927-936
-
(1989)
J Clin Invest
, vol.83
, pp. 927-936
-
-
Corr, P.B.1
Creer, M.H.2
Yamada, K.A.3
-
47
-
-
26244444855
-
Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency
-
Gillingham MB, Weleber RG, Neuringer M et al. (2005) Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency. Mol Genet Metab 86:124-133
-
(2005)
Mol Genet Metab
, vol.86
, pp. 124-133
-
-
Gillingham, M.B.1
Weleber, R.G.2
Neuringer, M.3
-
48
-
-
0033803952
-
Synergistic heterozygosity: Disease resulting from multiple partial defects in one or more metabolic pathways
-
Vockley J, Rinaldo P, Bennett MJ et al. (2000) Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways. Mol Genet Metab 71:10-18
-
(2000)
Mol Genet Metab
, vol.71
, pp. 10-18
-
-
Vockley, J.1
Rinaldo, P.2
Bennett, M.J.3
-
49
-
-
18044397840
-
Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation
-
Schuler AM, Gower BA, Matern D et al. (2005) Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation. Mol Genet Metab 85:7-11
-
(2005)
Mol Genet Metab
, vol.85
, pp. 7-11
-
-
Schuler, A.M.1
Gower, B.A.2
Matern, D.3
-
50
-
-
0027302901
-
Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients
-
Taroni F, Verderio E, Dworzak F et al. (1993) Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. Nat Genet 4:314-320
-
(1993)
Nat Genet
, vol.4
, pp. 314-320
-
-
Taroni, F.1
Verderio, E.2
Dworzak, F.3
-
51
-
-
0029835610
-
Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene
-
IJlst L, Ruiter JP, Hoovers JM et al. (1996) Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha subunit gene. J Clin Invest 98:1028-1033
-
(1996)
J Clin Invest
, vol.98
, pp. 1028-1033
-
-
Ijlst, L.1
Ruiter, J.P.2
Hoovers, J.M.3
-
52
-
-
0036215641
-
Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry
-
Gempel K, Kiechl S, Hofmann S et al. (2002) Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry. J Inherit Metab Dis 25:17-27
-
(2002)
J Inherit Metab Dis
, vol.25
, pp. 17-27
-
-
Gempel, K.1
Kiechl, S.2
Hofmann, S.3
-
53
-
-
77957221872
-
ESI-MS/MS measurement of free carnitine and its precursor gamma-butyrobetaine in plasma and dried blood spots from patients with organic acidurias and fatty acid oxidation disorders
-
Primassin S, Spiekerkoetter U (2010) ESI-MS/MS measurement of free carnitine and its precursor gamma-butyrobetaine in plasma and dried blood spots from patients with organic acidurias and fatty acid oxidation disorders. Mol Genet Metab 101:141-145
-
(2010)
Mol Genet Metab
, vol.101
, pp. 141-145
-
-
Primassin, S.1
Spiekerkoetter, U.2
-
54
-
-
0035052047
-
Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry
-
Wilcken B, Wiley V, Sim KG et al. (2001) Carnitine transporter defect diagnosed by newborn screening with electrospray tandem mass spectrometry. J Pediatr 138:581-584
-
(2001)
J Pediatr
, vol.138
, pp. 581-584
-
-
Wilcken, B.1
Wiley, V.2
Sim, K.G.3
-
55
-
-
0027276043
-
Renal handling of carnitine in secondary carnitine deficiency disorders
-
Stanley CA, Berry GT, Bennett MJ et al. (1993) Renal handling of carnitine in secondary carnitine deficiency disorders. Pediatr Res 34:89-97
-
(1993)
Pediatr Res
, vol.34
, pp. 89-97
-
-
Stanley, C.A.1
Berry, G.T.2
Bennett, M.J.3
-
56
-
-
0026736847
-
Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency
-
Stanley CA, Sunaryo F, Hale DE et al. (1992) Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency. J Inherit Metab Dis 15:785-789
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 785-789
-
-
Stanley, C.A.1
Sunaryo, F.2
Hale, D.E.3
-
57
-
-
0343114366
-
Quantitative analysis of urinary acylglycines for the diagnosis of beta-oxidation defects using GC-NCI-MS
-
Costa CG, Guerand WS, Struys EA et al. (2000) Quantitative analysis of urinary acylglycines for the diagnosis of beta-oxidation defects using GC-NCI-MS. J Pharm Biomed Anal 21:1215-1224
-
(2000)
J Pharm Biomed Anal
, vol.21
, pp. 1215-1224
-
-
Costa, C.G.1
Guerand, W.S.2
Struys, E.A.3
-
58
-
-
77957602067
-
The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results
-
Wanders RJ, Ruiter JP, Ijlst L et al. (2010) The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results. J Inherit Metab Dis 33:479-494
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 479-494
-
-
Wanders, R.J.1
Ruiter, J.P.2
Ijlst, L.3
-
59
-
-
0033037321
-
Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: An improved tool for the diagnosis of fatty acid oxidation defects
-
Ventura FV, Costa CG, Struys EA et al. (1999) Quantitative acylcarnitine profiling in fibroblasts using [U-13C] palmitic acid: an improved tool for the diagnosis of fatty acid oxidation defects. Clin Chim Acta 281:1-17
-
(1999)
Clin Chim Acta
, vol.281
, pp. 1-17
-
-
Ventura, F.V.1
Costa, C.G.2
Struys, E.A.3
-
60
-
-
0036125848
-
Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders
-
Sim KG, Carpenter K, Hammond J et al. (2002) Acylcarnitine profiles in fibroblasts from patients with respiratory chain defects can resemble those from patients with mitochondrial fatty acid beta-oxidation disorders. Metabolism 51:366-371
-
(2002)
Metabolism
, vol.51
, pp. 366-371
-
-
Sim, K.G.1
Carpenter, K.2
Hammond, J.3
-
61
-
-
0030808290
-
Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3H]oleic acid
-
Olpin SE, Manning NJ, Pollitt RJ et al. (1997) Improved detection of long-chain fatty acid oxidation defects in intact cells using [9,10-3H]oleic acid. J Inherit Metab Dis 20:415-419
-
(1997)
J Inherit Metab Dis
, vol.20
, pp. 415-419
-
-
Olpin, S.E.1
Manning, N.J.2
Pollitt, R.J.3
-
62
-
-
0029814438
-
Evaluation of fasts for investigating hypoglycaemia or suspected metabolic disease
-
Morris AA, Thekekara A, Wilks Z et al. (1996) Evaluation of fasts for investigating hypoglycaemia or suspected metabolic disease. Arch Dis Child 75:115-119
-
(1996)
Arch Dis Child
, vol.75
, pp. 115-119
-
-
Morris, A.A.1
Thekekara, A.2
Wilks, Z.3
-
63
-
-
0025694816
-
The fasting test in paediatrics: Application to the diagnosis of pathological hypoand hyperketotic states
-
Bonnefont JP, Specola NB, Vassault A et al. (1990) The fasting test in paediatrics: application to the diagnosis of pathological hypoand hyperketotic states. Eur J Pediatr 150:80-85
-
(1990)
Eur J Pediatr
, vol.150
, pp. 80-85
-
-
Bonnefont, J.P.1
Specola, N.B.2
Vassault, A.3
-
64
-
-
0026448020
-
Intercurrent illness in inborn errors of intermediary metabolism
-
Dixon MA, Leonard JV (1992) Intercurrent illness in inborn errors of intermediary metabolism. Arch Dis Child 67:1387-1391
-
(1992)
Arch Dis Child
, vol.67
, pp. 1387-1391
-
-
Dixon, M.A.1
Leonard, J.V.2
-
65
-
-
34548015223
-
Effects of a fat load and exercise on asymptomatic VLCAD deficiency
-
Spiekerkoetter U (2007) Effects of a fat load and exercise on asymptomatic VLCAD deficiency. J Inherit Metab Dis 30:405
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 405
-
-
Spiekerkoetter, U.1
-
66
-
-
69449103722
-
Treatment recommendations in long-chain fatty acid oxidation defects: Consensus from a workshop
-
Spiekerkoetter U, Lindner M, Santer R et al. (2009) Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis 32:498-505
-
(2009)
J Inherit Metab Dis
, vol.32
, pp. 498-505
-
-
Spiekerkoetter, U.1
Lindner, M.2
Santer, R.3
-
67
-
-
60649111860
-
A Delphi clinical practice protocol for the management of very long chain acyl- CoA dehydrogenase deficiency
-
Arnold GL, Hove v J, Freedenberg D et al. (2009) A Delphi clinical practice protocol for the management of very long chain acyl- CoA dehydrogenase deficiency. Mol Genet Metab 96:85-90
-
(2009)
Mol Genet Metab
, vol.96
, pp. 85-90
-
-
Arnold, G.L.1
Hove V, J.2
Freedenberg, D.3
-
68
-
-
0036071008
-
Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride
-
Roe CR, Sweetman L, Roe DS et al. (2002) Treatment of cardiomyopathy and rhabdomyolysis in long-chain fat oxidation disorders using an anaplerotic odd-chain triglyceride. J Clin Invest 110:259-269
-
(2002)
J Clin Invest
, vol.110
, pp. 259-269
-
-
Roe, C.R.1
Sweetman, L.2
Roe, D.S.3
-
69
-
-
50549093513
-
Carnitine palmitoyltransferase II deficiency: Successful anaplerotic diet therapy
-
Roe CR, Yang BZ, Brunengraber H et al. (2008) Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. Neurology 71:260-264
-
(2008)
Neurology
, vol.71
, pp. 260-264
-
-
Roe, C.R.1
Yang, B.Z.2
Brunengraber, H.3
-
70
-
-
0030995186
-
Carnitine effects on coenzyme A profiles in rat liver with hypoglycin inhibition of multiple dehydrogenases
-
Lieu YK, Hsu BY, Price WA et al. (1997) Carnitine effects on coenzyme A profiles in rat liver with hypoglycin inhibition of multiple dehydrogenases. Am J Physiol 272:E359-366
-
(1997)
Am J Physiol
, vol.272
, pp. E359-E366
-
-
Lieu, Y.K.1
Hsu, B.Y.2
Price, W.A.3
-
71
-
-
36748999442
-
Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: Toward a genotype-based therapy
-
Gobin-Limballe S, Djouadi F, Aubey F et al. (2007) Genetic basis for correction of very-long-chain acyl-coenzyme A dehydrogenase deficiency by bezafibrate in patient fibroblasts: toward a genotype-based therapy. Am J Hum Genet 81:1133-1143
-
(2007)
Am J Hum Genet
, vol.81
, pp. 1133-1143
-
-
Gobin-Limballe, S.1
Djouadi, F.2
Aubey, F.3
-
72
-
-
60849099038
-
Bezafibrate for an inborn mitochondrial beta-oxidation defect
-
Bonnefont JP, Bastin J, Behin A et al. (2009) Bezafibrate for an inborn mitochondrial beta-oxidation defect. N Engl J Med 360:838-840
-
(2009)
N Engl J Med
, vol.360
, pp. 838-840
-
-
Bonnefont, J.P.1
Bastin, J.2
Behin, A.3
-
73
-
-
77957587770
-
Fatty acid oxidation disorders: Outcome and long-term prognosis
-
Wilcken B (2010) Fatty acid oxidation disorders: outcome and long-term prognosis. J Inherit Metab Dis 33:501-506
-
(2010)
J Inherit Metab Dis
, vol.33
, pp. 501-506
-
-
Wilcken, B.1
-
74
-
-
0032494567
-
Leukotriene C4-synthesis deficiency: A new inborn error of metabolism linked to a fatal developmental syndrome
-
Mayatepek E, Flock B (1998) Leukotriene C4-synthesis deficiency: a new inborn error of metabolism linked to a fatal developmental syndrome. Lancet 352:1514-1517
-
(1998)
Lancet
, vol.352
, pp. 1514-1517
-
-
Mayatepek, E.1
Flock, B.2
-
75
-
-
0034957331
-
Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjogren-Larsson syndrome
-
Willemsen MA, L IJ, Steijlen PM et al. (2001) Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjogren-Larsson syndrome. Brain 124:1426-1437
-
(2001)
Brain
, vol.124
, pp. 1426-1437
-
-
Willemsen, M.A.1
Ij, L.2
Steijlen, P.M.3
-
76
-
-
0035862821
-
Defective metabolism of leukotriene B4 in the Sjogren-Larsson syndrome
-
Willemsen MA, Rotteveel JJ, de Jong JG et al. (2001) Defective metabolism of leukotriene B4 in the Sjogren-Larsson syndrome. J Neurol Sci 183:61-67
-
(2001)
J Neurol Sci
, vol.183
, pp. 61-67
-
-
Willemsen, M.A.1
Rotteveel, J.J.2
De Jong, J.G.3
-
77
-
-
58349097716
-
Enzymatic diagnosis of Sjogren-Larsson syndrome using electrospray ionization mass spectrometry
-
Sanders RJ, Ofman R, Dekker C et al. (2009) Enzymatic diagnosis of Sjogren-Larsson syndrome using electrospray ionization mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci 877:451-455
-
(2009)
J Chromatogr B Analyt Technol Biomed Life Sci
, vol.877
, pp. 451-455
-
-
Sanders, R.J.1
Ofman, R.2
Dekker, C.3
-
78
-
-
0035206419
-
Clinical and biochemical effects of zileuton in patients with the Sjogren-Larsson syndrome
-
Willemsen MA, Lutt MA, Steijlen PM et al. (2001) Clinical and biochemical effects of zileuton in patients with the Sjogren-Larsson syndrome. Eur J Pediatr 160:711-717
-
(2001)
Eur J Pediatr
, vol.160
, pp. 711-717
-
-
Willemsen, M.A.1
Lutt, M.A.2
Steijlen, P.M.3
|