-
1
-
-
0003601533
-
Carnitine palmitoyl transferase I deficiency (CPT I), three affected siblings in one family
-
Al Aqeel A, Rashed M (1998) Carnitine palmitoyl transferase I deficiency (CPT I), three affected siblings in one family (Abstract). J Inher Metab Dis 21 (supplement 2): 61.
-
(1998)
J Inher Metab Dis
, vol.21
, Issue.2 SUPPL.
, pp. 61
-
-
Al Aqeel, A.1
Rashed, M.2
-
2
-
-
0028003777
-
Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency
-
Bergman AJ, Donckerwolcke RA, Duran M, et al (1994) Rate-dependent distal renal tubular acidosis and carnitine palmitoyltransferase I deficiency. Pediatr Res 36: 582-588.
-
(1994)
Pediatr Res
, vol.36
, pp. 582-588
-
-
Bergman, A.J.1
Donckerwolcke, R.A.2
Duran, M.3
-
4
-
-
0029865178
-
Molecular analysis of carnitine palmitoyl-transferase II deficiency with hepatocardiomuscular expression
-
Bonnefont JP, Taroni F, Cavadini P, et al (1996) Molecular analysis of carnitine palmitoyl-transferase II deficiency with hepatocardiomuscular expression. Am J Hum Genet 58: 971-978.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 971-978
-
-
Bonnefont, J.P.1
Taroni, F.2
Cavadini, P.3
-
5
-
-
0019499706
-
Fasting hypoglycermia resulting from hepatic carnitine palmitoyltransferase deficiency
-
Bougneres PF, Saudubray JM, Marsac C, et al (1981) Fasting hypoglycermia resulting from hepatic carnitine palmitoyltransferase deficiency. J Pediatr 98: 742-746.
-
(1981)
J Pediatr
, vol.98
, pp. 742-746
-
-
Bougneres, P.F.1
Saudubray, J.M.2
Marsac, C.3
-
6
-
-
0028904122
-
Human liver mitochondrial carnitine palmitoyltransferase I: Characterization of its cDNA and chromosomal localization and partial analysis of the gene
-
Britton CH, Schultz RA, Zhang B, et al (1995) Human liver mitochondrial carnitine palmitoyltransferase I: characterization of its cDNA and chromosomal localization and partial analysis of the gene. Proc Natl Acad Sci USA 92: 1984-1988.
-
(1995)
Proc Natl Acad Sci USA
, vol.92
, pp. 1984-1988
-
-
Britton, C.H.1
Schultz, R.A.2
Zhang, B.3
-
7
-
-
0031568912
-
Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPTIA and CPT1B)
-
Britton CH, Mackey DW, Esser V, et al (1997) Fine chromosome mapping of the genes for human liver and muscle carnitine palmitoyltransferase I (CPTIA and CPT1B). Genomics 40:209-211.
-
(1997)
Genomics
, vol.40
, pp. 209-211
-
-
Britton, C.H.1
Mackey, D.W.2
Esser, V.3
-
8
-
-
0028931461
-
Rapid diagnosis of long-chain and medium chain fatty acid oxidation disorders using lymphocytes
-
Brivet M, Slama A, Saudubray JM, et al (1995) Rapid diagnosis of long-chain and medium chain fatty acid oxidation disorders using lymphocytes. Ann Clin Biochem 32: 154-159.
-
(1995)
Ann Clin Biochem
, vol.32
, pp. 154-159
-
-
Brivet, M.1
Slama, A.2
Saudubray, J.M.3
-
9
-
-
0029985828
-
Retrospective diagnosis of carnitine acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents
-
Brivet M, Slama A, Millington D, et al (1996) Retrospective diagnosis of carnitine acylcarnitine translocase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents. J Inher Metab Dis 19: 181-184.
-
(1996)
J Inher Metab Dis
, vol.19
, pp. 181-184
-
-
Brivet, M.1
Slama, A.2
Millington, D.3
-
10
-
-
0030688009
-
Mitochondrial carnitine acylcarnitine translocase deficiency presenting as sudden neonatal death
-
Chalmers RA, Stanley CA, English N, et al (1997) Mitochondrial carnitine acylcarnitine translocase deficiency presenting as sudden neonatal death. J Pediatr 131: 220-225.
-
(1997)
J Pediatr
, vol.131
, pp. 220-225
-
-
Chalmers, R.A.1
Stanley, C.A.2
English, N.3
-
11
-
-
0019202482
-
Systemic carnitine deficiency - A treatable inherited lipid-storage disease presenting as Reye's syndrome
-
Chapoy PR, Angelini C, Brown WJ et al (1980) Systemic carnitine deficiency - a treatable inherited lipid-storage disease presenting as Reye's syndrome. N Engl J Med 303: 1389-1394.
-
(1980)
N Engl J Med
, vol.303
, pp. 1389-1394
-
-
Chapoy, P.R.1
Angelini, C.2
Brown, W.J.3
-
12
-
-
0029956829
-
First prenatal diagnosis of the carnitine transporter defect
-
Christodoulou J, Teo SH, Hammond J, et al (1996) First prenatal diagnosis of the carnitine transporter defect. Am J Med Genet 66: 21-24.
-
(1996)
Am J Med Genet
, vol.66
, pp. 21-24
-
-
Christodoulou, J.1
Teo, S.H.2
Hammond, J.3
-
13
-
-
0033040747
-
Identification of the molecular defect in a severe case of carnitine acylcarnitine carrier deficiency
-
Costa C, Costa JM Nuoffer JM, et al (1999) Identification of the molecular defect in a severe case of carnitine acylcarnitine carrier deficiency. J Inher Metab Dis 22: 267-270.
-
(1999)
J Inher Metab Dis
, vol.22
, pp. 267-270
-
-
Costa, C.1
Costa, J.M.2
Nuoffer, J.M.3
-
14
-
-
0023720123
-
Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: Two distinct entities
-
Demaugre F, Bonnefont JP, Mitchell G, et al (1988) Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: two distinct entities. Pediatr Res 24: 308-311.
-
(1988)
Pediatr Res
, vol.24
, pp. 308-311
-
-
Demaugre, F.1
Bonnefont, J.P.2
Mitchell, G.3
-
15
-
-
0025906746
-
Infantile form of carnitine palmitoyl transferase 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 palmitoyl transferase 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
-
16
-
-
0015800677
-
Muscle carnitine palmitoyl transferase deficiency and myoglobinuria
-
DiMauro S, Melis-Dimauro PM (1973) Muscle carnitine palmitoyl transferase deficiency and myoglobinuria. Science 182: 929-931.
-
(1973)
Science
, vol.182
, pp. 929-931
-
-
DiMauro, S.1
Melis-Dimauro, P.M.2
-
17
-
-
0028156786
-
Profound carnitine palmitoyl transferase II deficiency
-
Elpeleg ON, Gutman A (1994) Profound carnitine palmitoyl transferase II deficiency (Letter) J Pediatr 124: 160.
-
(1994)
J Pediatr
, vol.124
, pp. 160
-
-
Elpeleg, O.N.1
Gutman, A.2
-
18
-
-
0023718446
-
Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts
-
Eriksson BO, Linstedt S, Nordin I (1988) Hereditary defect in carnitine membrane transport is expressed in skin fibroblasts. Eur J Pediatr 147: 662-663.
-
(1988)
Eur J Pediatr
, vol.147
, pp. 662-663
-
-
Eriksson, B.O.1
Linstedt, S.2
Nordin, I.3
-
19
-
-
0027418315
-
Cloning, sequencing and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase I
-
Esser V, Britton CH, Weiss BC, et al (1993) Cloning, sequencing and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase I. J Biol Chem 268: 5817-5822.
-
(1993)
J Biol Chem
, vol.268
, pp. 5817-5822
-
-
Esser, V.1
Britton, C.H.2
Weiss, B.C.3
-
20
-
-
0026008564
-
cDNA cloning, sequence analysis and chromosomal localization of the gene for human carnitine palmitoyltransferase
-
Finocchiaro G, Taroni F, Rocchi M, et al (1991) cDNA cloning, sequence analysis and chromosomal localization of the gene for human carnitine palmitoyltransferase. Proc Natl Acad Sci USA 88: 661-665.
-
(1991)
Proc Natl Acad Sci USA
, vol.88
, pp. 661-665
-
-
Finocchiaro, G.1
Taroni, F.2
Rocchi, M.3
-
21
-
-
0032565650
-
Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency
-
Fontaine M, Briand G, Largillière C, et al (1998) Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency. Clin Chim Acta 273: 161-170.
-
(1998)
Clin Chim Acta
, vol.273
, pp. 161-170
-
-
Fontaine, M.1
Briand, G.2
Largillière, C.3
-
22
-
-
0028007110
-
Assignment of the human carnitine palmitoyltransferase II gene (CPT I) to chromosome 1p32
-
Gellera C, Verderio E, Floridia G, et al (1994) Assignment of the human carnitine palmitoyltransferase II gene (CPT I) to chromosome 1p32. Genomics 24: 195-197.
-
(1994)
Genomics
, vol.24
, pp. 195-197
-
-
Gellera, C.1
Verderio, E.2
Floridia, G.3
-
23
-
-
0028325389
-
Primary defect of juvenile visceral steatosis (JVS) mouse with systemic carnitine deficiency is probably in renal carnitine transport system
-
Horiuchi M, Kobayashi K, Yamaguchi S, et al (1994) Primary defect of juvenile visceral steatosis (JVS) mouse with systemic carnitine deficiency is probably in renal carnitine transport system. Biochim Biophys Acta 1226: 25-30.
-
(1994)
Biochim Biophys Acta
, vol.1226
, pp. 25-30
-
-
Horiuchi, M.1
Kobayashi, K.2
Yamaguchi, S.3
-
24
-
-
0026410146
-
Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II
-
Hug G, Bove KE, Soukup S (1991) Lethal neonatal multiorgan deficiency of carnitine palmitoyltransferase II. N Engl J Med 325: 1862-1864.
-
(1991)
N Engl J Med
, vol.325
, pp. 1862-1864
-
-
Hug, G.1
Bove, K.E.2
Soukup, S.3
-
25
-
-
17344366560
-
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient
-
Huizing M, Iacobazzi V, Ijlst L, et al (1997) Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. Am J Hum Genet 61: 1239-1245.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1239-1245
-
-
Huizing, M.1
Iacobazzi, V.2
Ijlst, L.3
-
26
-
-
7344249597
-
Carnitine-acylcarnitine carrier deficiency: Identification of the molecular defect in a patient
-
Huizing M, Wendel U, Ruitenbeek W, et al (1998) Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient. J Inher Metab Dis 21: 262-267.
-
(1998)
J Inher Metab Dis
, vol.21
, pp. 262-267
-
-
Huizing, M.1
Wendel, U.2
Ruitenbeek, W.3
-
27
-
-
0032145885
-
Molecular basis of hepatic carnitine palmitoyltransferase I deficiency
-
Ijlst L, Mandel H, Oostheim W, et al (1998) Molecular basis of hepatic carnitine palmitoyltransferase I deficiency. J Clin Invest 102: 1-5.
-
(1998)
J Clin Invest
, vol.102
, pp. 1-5
-
-
Ijlst, L.1
Mandel, H.2
Oostheim, W.3
-
28
-
-
0031044917
-
The mitochondrial carnitine carrier protein cDNA cloning, primary structure and comparison with other mitochondrial transport proteins
-
Indiveri C, Iacobazzi V, Giangregorio N, et al (1997) The mitochondrial carnitine carrier protein cDNA cloning, primary structure and comparison with other mitochondrial transport proteins. Biochem J 321: 713-719.
-
(1997)
Biochem J
, vol.321
, pp. 713-719
-
-
Indiveri, C.1
Iacobazzi, V.2
Giangregorio, N.3
-
29
-
-
0032544981
-
Carnitine uptake defect: Frameshift mutations in the human plasmalemmal carnitine transporter gene
-
Lamhonwah AH, Tein I (1998) Carnitine uptake defect: frameshift mutations in the human plasmalemmal carnitine transporter gene. Biochem Biophys Res Commun 252: 396-401.
-
(1998)
Biochem Biophys Res Commun
, vol.252
, pp. 396-401
-
-
Lamhonwah, A.H.1
Tein, I.2
-
30
-
-
0031043030
-
The mitochondrial carnitine palmitoyltransferase system: From concept to molecular analysis
-
McGarry JD, Brown NF (1997) The mitochondrial carnitine palmitoyltransferase system: from concept to molecular analysis. Eur J Biochem 244: 1-14.
-
(1997)
Eur J Biochem
, vol.244
, pp. 1-14
-
-
McGarry, J.D.1
Brown, N.F.2
-
31
-
-
0017875758
-
Carnitine palmitoyltransferase I. the site of inhibition of hepatic fatty acid oxidation by malonylCoA
-
McGarry JD, Leatherman GF, Foster DW (1978) Carnitine palmitoyltransferase I. The site of inhibition of hepatic fatty acid oxidation by malonylCoA. J Biol them 253: 4128-4136.
-
(1978)
J Biol Them
, vol.253
, pp. 4128-4136
-
-
McGarry, J.D.1
Leatherman, G.F.2
Foster, D.W.3
-
32
-
-
0020624753
-
Observations on the affinity for carnitine and malonylCoA sensitivity of carnitine palmitoyl transferase I in animals and human tissues
-
McGarry JD, Mills SE, Long CS et al (1983) Observations on the affinity for carnitine and malonylCoA sensitivity of carnitine palmitoyl transferase I in animals and human tissues. Biochem J 214: 21-28.
-
(1983)
Biochem J
, vol.214
, pp. 21-28
-
-
McGarry, J.D.1
Mills, S.E.2
Long, C.S.3
-
33
-
-
0026621735
-
The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders
-
Millington DS, Terada N, Chace DH et al (1992) The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders. Prog Clin Biol Res 375: 339-354.
-
(1992)
Prog Clin Biol Res
, vol.375
, pp. 339-354
-
-
Millington, D.S.1
Terada, N.2
Chace, D.H.3
-
34
-
-
0031940967
-
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype
-
Morris AAM, 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.M.1
Olpin, S.E.2
Brivet, M.3
-
35
-
-
0023657289
-
Some differencies in the properties of carnitine palmitoyl transferases activities of the outer and inner mitochondrial membranes
-
Murthy MSR, Pande SV (1987) Some differencies in the properties of carnitine palmitoyl transferases activities of the outer and inner mitochondrial membranes. Biochem J 248: 727-733.
-
(1987)
Biochem J
, vol.248
, pp. 727-733
-
-
Murthy, M.S.R.1
Pande, S.V.2
-
36
-
-
0028950214
-
Evidence for intermediate channeling in mitochondrial β-oxidation
-
Nada M, Rhead W, Sprecher H, et al (1995) Evidence for intermediate channeling in mitochondrial β-oxidation. J Biol Chem 270: 530-535.
-
(1995)
J Biol Chem
, vol.270
, pp. 530-535
-
-
Nada, M.1
Rhead, W.2
Sprecher, H.3
-
37
-
-
0029020109
-
A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency
-
Niezen-Koning KE, van Sproonsen FJ, Ijlst L, et al (1995) A patient with lethal cardiomyopathy and a carnitine-acylcarnitine translocase deficiency. J Inher Metab Dis 18: 230-232.
-
(1995)
J Inher Metab Dis
, vol.18
, pp. 230-232
-
-
Niezen-Koning, K.E.1
Van Sproonsen, F.J.2
Ijlst, L.3
-
38
-
-
0029080735
-
Lethal neonatal deficiency of carnitine palmitoyl transferase II associated with dysgenesis of the brain and kidneys
-
North K, Hoppel CL, De Girolami U, et al (1995) Lethal neonatal deficiency of carnitine palmitoyl transferase II associated with dysgenesis of the brain and kidneys. J Pediatr 127: 414-420.
-
(1995)
J Pediatr
, vol.127
, pp. 414-420
-
-
North, K.1
Hoppel, C.L.2
De Girolami, U.3
-
39
-
-
0028882774
-
Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase
-
Ogier de Baulny H, Slama A, Touati G, et al (1995) Neonatal hyperammonemia caused by a defect of carnitine-acylcarnitine translocase. J Pediatr 127: 723-728.
-
(1995)
J Pediatr
, vol.127
, pp. 723-728
-
-
Ogier De Baulny, H.1
Slama, A.2
Touati, G.3
-
40
-
-
0030776297
-
Carnitine-acylcarnitine translocase deficiency: A mild phenotype
-
Olpin SE, Bonham JR, Downing M, et al (1997) Carnitine-acylcarnitine translocase deficiency: a mild phenotype. J Inher Metab Dis 20: 714-715.
-
(1997)
J Inher Metab Dis
, vol.20
, pp. 714-715
-
-
Olpin, S.E.1
Bonham, J.R.2
Downing, M.3
-
41
-
-
0027513206
-
Carnitine acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block
-
Pande SV, Brivet M, Slama A, et al (1993) Carnitine acylcarnitine translocase deficiency with severe hypoglycemia and auriculo ventricular block. 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
-
42
-
-
0030772205
-
Deficient muscle carnitine transport in primary carnitine deficiency
-
Pons R, Carrozzo R, Tein I, et al (1997) Deficient muscle carnitine transport in primary carnitine deficiency. Pediatr Res 42: 583-587.
-
(1997)
Pediatr Res
, vol.42
, pp. 583-587
-
-
Pons, R.1
Carrozzo, R.2
Tein, I.3
-
43
-
-
0030712175
-
Sudden neonatal death in carnitine transporter deficiency
-
Rinaldo P, Stanley CA, Hsu Byl, et al (1997) Sudden neonatal death in carnitine transporter deficiency. J Pediatr 131: 304-305.
-
(1997)
J Pediatr
, vol.131
, pp. 304-305
-
-
Rinaldo, P.1
Stanley, C.A.2
Byl, H.3
-
44
-
-
0000576457
-
Mitochondrial fatty acid oxidation disorders
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Roe CR, Coates PM (1995) Mitochondrial fatty acid oxidation disorders. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1501-1535.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edn.
, pp. 1501-1535
-
-
Roe, C.R.1
Coates, P.M.2
-
45
-
-
0019992258
-
Oxidation of fatty acids in cultured fibroblasts : A model system for the detection of and study of defects in oxidation
-
Saudubray JM, Coude FX, Demaugre F, et al (1982) Oxidation of fatty acids in cultured fibroblasts : a model system for the detection of and study of defects in oxidation. Pediatr Res 16: 877-881.
-
(1982)
Pediatr Res
, vol.16
, pp. 877-881
-
-
Saudubray, J.M.1
Coude, F.X.2
Demaugre, F.3
-
46
-
-
0033004986
-
Recognition and management of fatty acid oxidation defects: A series of 107 patients
-
Saudubray JM, Martin D, De Lonlay et al (1999) Recognition and management of fatty acid oxidation defects: a series of 107 patients J Inher Metab Dis 22: 488-502.
-
(1999)
J Inher Metab Dis
, vol.22
, pp. 488-502
-
-
Saudubray, J.M.1
Martin, D.2
De Lonlay3
-
47
-
-
0031040157
-
Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: Implications for diagnosis and therapy
-
Schaefer J, Jackson S, Taroni F, et al (1997) Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy. J Neurol Neurosurg Psychiatry 62: 169-176.
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.62
, pp. 169-176
-
-
Schaefer, J.1
Jackson, S.2
Taroni, F.3
-
48
-
-
0032231462
-
Evidence for linkage of human primary systemic carnitine deficiency with D5S436: A novel gene locus on chromosome 63
-
Shoji Y, Koizumi A, Kayo T, et al (1998) Evidence for linkage of human primary systemic carnitine deficiency with D5S436: a novel gene locus on chromosome 63. Am J Hum Genet 63: 101-108.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 101-108
-
-
Shoji, Y.1
Koizumi, A.2
Kayo, T.3
-
49
-
-
0029785819
-
Complementation analysis of carnitine palmitoyl transferase I and II defects
-
Slama A, Brivet M, Boutron A, et al (1996) Complementation analysis of carnitine palmitoyl transferase I and II defects. Pediatr Res 40: 542-546.
-
(1996)
Pediatr Res
, vol.40
, pp. 542-546
-
-
Slama, A.1
Brivet, M.2
Boutron, A.3
-
50
-
-
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
-
51
-
-
0026736847
-
Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase I deficiency
-
Stanley CA, Sunyaro F, Hale DE, et al (1992a) Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase I deficiency. J Inher Metab Dis 15: 785-789.
-
(1992)
J Inher Metab Dis
, vol.15
, pp. 785-789
-
-
Stanley, C.A.1
Sunyaro, F.2
Hale, D.E.3
-
52
-
-
0026703357
-
Brief report: A deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane
-
Stanley CA, Hale DE, Berry GT, et al (1992b) Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane. N Eng J Med 327: 19-23.
-
(1992)
N Eng J Med
, vol.327
, pp. 19-23
-
-
Stanley, C.A.1
Hale, D.E.2
Berry, G.T.3
-
53
-
-
0026744712
-
Molecular characterization of inherited carnitine palmitoyltransferase II deficiency
-
Taroni F, Verderio E, Fiorucci S, et al (1992) Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. Proc Natl Acad Sci USA 89: 8429-8433.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 8429-8433
-
-
Taroni, F.1
Verderio, E.2
Fiorucci, S.3
-
54
-
-
0027302901
-
Identification of a common mutation in the carnitine palmitoyl transferase gene in familial recurrent myoglobinuria patients
-
Taroni F, Verderio E, Dworzak F, et al (1993) Identification of a common mutation in the carnitine palmitoyl transferase gene in familial recurrent myoglobinuria patients. Nature Genetics 4: 314-320.
-
(1993)
Nature Genetics
, vol.4
, pp. 314-320
-
-
Taroni, F.1
Verderio, E.2
Dworzak, F.3
-
55
-
-
0030606688
-
The human plasmalemmal carnitine transporter defect is expressed in cultured lymphoblasts: A new non-invasive method for diagnosis
-
Tein I, Xie ZW (1996) The human plasmalemmal carnitine transporter defect is expressed in cultured lymphoblasts: a new non-invasive method for diagnosis. Clin Chim Acta 252: 201-204.
-
(1996)
Clin Chim Acta
, vol.252
, pp. 201-204
-
-
Tein, I.1
Xie, Z.W.2
-
56
-
-
0024473260
-
Normal muscle CPT I and CPT II activities in hepatic presentation patients with CPT I deficiency in fibroblasts
-
Tein I Demaugre F, Bonnefont JP, et al (1989) Normal muscle CPT I and CPT II activities in hepatic presentation patients with CPT I deficiency in fibroblasts. J Neurol Sci 92: 229-245.
-
(1989)
J Neurol Sci
, vol.92
, pp. 229-245
-
-
Tein, I.1
Demaugre, F.2
Bonnefont, J.P.3
-
57
-
-
0025026022
-
Impaired skin fibroblasts carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy
-
Tein I, De Vivo DC, Bierman F, et al (1990) Impaired skin fibroblasts carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. Pediatr Res 28: 247-255.
-
(1990)
Pediatr Res
, vol.28
, pp. 247-255
-
-
Tein, I.1
De Vivo, D.C.2
Bierman, F.3
-
58
-
-
25744474171
-
The muscular form of carnitine palmitoyltransferase II (CPT II) exposes to severe cardiac dysfunction depending on the type of CPT II mutations
-
Thuillier L, Sevin C, Demaugre F, et al (1997) The muscular form of carnitine palmitoyltransferase II (CPT II) exposes to severe cardiac dysfunction depending on the type of CPT II mutations. (Abstract). Am J Hum Genet 61(supplement): A 263.
-
(1997)
Am J Hum Genet
, vol.61
, Issue.SUPPL.
-
-
Thuillier, L.1
Sevin, C.2
Demaugre, F.3
-
59
-
-
0024246260
-
Primary carnitine deficiency due to a failure of carnitine transport in muscle and fibroblasts
-
Treem WR, Stanley CA, Finegold DN, et al (1988) Primary carnitine deficiency due to a failure of carnitine transport in muscle and fibroblasts. N Eng J Med 319: 1331-1336.
-
(1988)
N Eng J Med
, vol.319
, pp. 1331-1336
-
-
Treem, W.R.1
Stanley, C.A.2
Finegold, D.N.3
-
60
-
-
0028859651
-
Carnitine palmitoyl transferase type II deficiency : Structure of the gene and characterization of two novel disease-causing mutations
-
Verderio E, Cavadini P, Montermini L, et al (1995) Carnitine palmitoyl transferase type II deficiency : structure of the gene and characterization of two novel disease-causing mutations. Hum Mol Genet 4: 19-29.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 19-29
-
-
Verderio, E.1
Cavadini, P.2
Montermini, L.3
-
61
-
-
0029080579
-
Infantile form of carnitine palmitoyltransferase type II deficiency in a girl with rapid fatal onset
-
Vianney-Saban C, Stremler N, Paul O, et al (1995) Infantile form of carnitine palmitoyltransferase type II deficiency in a girl with rapid fatal onset. J Inher Metab Dis 18: 362-363.
-
(1995)
J Inher Metab Dis
, vol.18
, pp. 362-363
-
-
Vianney-Saban, C.1
Stremler, N.2
Paul, O.3
-
62
-
-
0031424187
-
Assignment of the carnitine-acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization
-
Viggiano L, Iacobazzi V, Marzella R, et al (1997) Assignment of the carnitine-acylcarnitine translocase gene (CACT) to human chromosome band 3p21.31 by in situ hybridization. Cytogenet Cell Genet 79: 62-63.
-
(1997)
Cytogenet Cell Genet
, vol.79
, pp. 62-63
-
-
Viggiano, L.1
Iacobazzi, V.2
Marzella, R.3
-
63
-
-
7144227283
-
Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency functional analysis and association with polymorphic haplotypes and two clinical phenotypes
-
Wataya K, Akanuma J, Cavadini P, et al (1998) Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency functional analysis and association with polymorphic haplotypes and two clinical phenotypes. Hum Mutat 11: 377-386.
-
(1998)
Hum Mutat
, vol.11
, pp. 377-386
-
-
Wataya, K.1
Akanuma, J.2
Cavadini, P.3
-
64
-
-
0028238880
-
Rat heart expresses two forms of mitochondrial carnitine palmitoyltransferase I
-
Weis BC, Esser V, Foster DW, et al (1994) Rat heart expresses two forms of mitochondrial carnitine palmitoyltransferase I. J Biol Chem 269: 18712-18715.
-
(1994)
J Biol Chem
, vol.269
, pp. 18712-18715
-
-
Weis, B.C.1
Esser, V.2
Foster, D.W.3
-
65
-
-
0001123688
-
Carnitine palmitoyl transferase type II deficiency: Two new cases and successful prenatal diagnosis
-
Witt DR, Theobald M, Santa-Maria M, et al (1991) Carnitine palmitoyl transferase type II deficiency: two new cases and successful prenatal diagnosis (Abstract). Am J Hum Genet 49(supplement4): 109.
-
(1991)
Am J Hum Genet
, vol.49
, Issue.4 SUPPL.
, pp. 109
-
-
Witt, D.R.1
Theobald, M.2
Santa-Maria, M.3
-
66
-
-
0025376052
-
Cloning, sequencing and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase II
-
Woeltje KF, Esser V, Weis BC, et al (1990) Cloning, sequencing and expression of a cDNA encoding rat liver mitochondrial carnitine palmitoyltransferase II. J Biol Chem 265: 10720-10725.
-
(1990)
J Biol Chem
, vol.265
, pp. 10720-10725
-
-
Woeltje, K.F.1
Esser, V.2
Weis, B.C.3
-
67
-
-
0029954698
-
Two novel gene mutations (G174→Lys, Phe383 → Tyr) causing the hepatic form of carnitine palmitoyl transferase II deficiency
-
Yamamoto S, Abe H, Kohgo T, et al (1996) Two novel gene mutations (G174→Lys, Phe383 → Tyr) causing the hepatic form of carnitine palmitoyl transferase II deficiency. Hum Genet 98: 116-118.
-
(1996)
Hum Genet
, vol.98
, pp. 116-118
-
-
Yamamoto, S.1
Abe, H.2
Kohgo, T.3
-
68
-
-
0030798104
-
Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I
-
Yamazaki N, Yamanaka Y, Hashimoto Y, et al (1997) Structural features of the gene encoding human muscle type carnitine palmitoyltransferase I. FEBS Lett 409: 401-406.
-
(1997)
FEBS Lett
, vol.409
, pp. 401-406
-
-
Yamazaki, N.1
Yamanaka, Y.2
Hashimoto, Y.3
-
69
-
-
0002662164
-
Carnitine palmitoyl transferase deficiency
-
Engel AG, Franzini-Armstrong C, eds. New York: McGraw-Hill
-
Ziers S (1994) Carnitine palmitoyl transferase deficiency. In: Engel AG, Franzini-Armstrong C, eds. Myology 2nd edn, vol. 2. New York: McGraw-Hill, 1577-1586.
-
(1994)
Myology 2nd Edn
, vol.2
, pp. 1577-1586
-
-
Ziers, S.1
|