-
1
-
-
0028564681
-
3-Methylglutaconic aciduria: Ten new cases with a possible new phenotype
-
(suppl) Al Aqeel A Rashed M Ozand PT 3-Methylglutaconic aciduria: Ten new cases with a possible new phenotype Brain Dev 16 1994 23 32
-
(1994)
Brain Dev
, vol.16
, pp. 23-32
-
-
Al Aqeel, A1
Rashed, M2
Ozand, PT3
-
2
-
-
0023724288
-
3-Methyl-glutaconic aciduria: A phenotype in which the activity of 3-methylglutaconyl-coenzyme A hydratase is normal
-
Gibson KM Nyhan WL Sweetman L 3-Methyl-glutaconic aciduria: A phenotype in which the activity of 3-methylglutaconyl-coenzyme A hydratase is normal Eur J Pediatr 148 1988 76 82
-
(1988)
Eur J Pediatr
, vol.148
, pp. 76-82
-
-
Gibson, KM1
Nyhan, WL2
Sweetman, L3
-
3
-
-
0027316215
-
Multiple syndromes of 3-methylglutaconic aciduria
-
Gibson KM Elpeleg ON Jakobs C Multiple syndromes of 3-methylglutaconic aciduria Pediatr Neurol 9 1993 120 123
-
(1993)
Pediatr Neurol
, vol.9
, pp. 120-123
-
-
Gibson, KM1
Elpeleg, ON2
Jakobs, C3
-
4
-
-
0028557903
-
CT and MR of the brain in the diagnosis of organicacidemias
-
(suppl) Brismar J Ozand PT CT and MR of the brain in the diagnosis of organicacidemias Brain Dev 16 1994 104 124
-
(1994)
Brain Dev
, vol.16
, pp. 104-124
-
-
Brismar, J1
Ozand, PT2
-
5
-
-
2442728373
-
Purification and characterization of branched chain α-ketoacid dehydrogenase complex of bovine kidney
-
Pettit FH Yeaman SJ Reed LJ Purification and characterization of branched chain α-ketoacid dehydrogenase complex of bovine kidney Proc Natl Acad Sci USA 75 1978 4881 4885
-
(1978)
, pp. 4881-4885
-
-
Pettit, FH1
Yeaman, SJ2
Reed, LJ3
-
6
-
-
0020022069
-
Congenital lactic acidosis, α-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single defect: Dihydrolipoyl deydrogenase deficiency
-
Munnich A Saudubray JM Taylor J Congenital lactic acidosis, α-ketoglutaric aciduria and variant form of maple syrup urine disease due to a single defect: Dihydrolipoyl deydrogenase deficiency Acta Paediatr Scand 71 1982 167 171
-
(1982)
Acta Paediatr Scand
, vol.71
, pp. 167-171
-
-
Munnich, A1
Saudubray, JM2
Taylor, J3
-
7
-
-
0015221492
-
Thiamine-responsive maple-syrup-urine disease
-
Scriver CR Mackenzie S Clow CL Thiamine-responsive maple-syrup-urine disease Lancet 1 1971 310 312
-
(1971)
Lancet
, vol.1
, pp. 310-312
-
-
Scriver, CR1
Mackenzie, S2
Clow, CL3
-
8
-
-
0015254018
-
Ketotic hypoglycaemia associated with transient branched-chain aminoacidemia
-
Hambraeus L Westphal O Hagberg B Ketotic hypoglycaemia associated with transient branched-chain aminoacidemia Acta Paediatr Scand 61 1972 81 89
-
(1972)
Acta Paediatr Scand
, vol.61
, pp. 81-89
-
-
Hambraeus, L1
Westphal, O2
Hagberg, B3
-
9
-
-
0018139693
-
Glucose and alanine metabolism in children with maple syrup urine disease
-
Haymond MW Ben-Galim E Strobel KE Glucose and alanine metabolism in children with maple syrup urine disease J Clin Invest 62 1978 398 405
-
(1978)
J Clin Invest
, vol.62
, pp. 398-405
-
-
Haymond, MW1
Ben-Galim, E2
Strobel, KE3
-
10
-
-
0028556241
-
Comparative frequency of hypoglycemia in selected organic acidemias, branched chain amino acidemia and disorders of fructose metabolism
-
(suppl) Worthen HG Al Ashwal A Ozand PT Comparative frequency of hypoglycemia in selected organic acidemias, branched chain amino acidemia and disorders of fructose metabolism Brain Dev 16 1994 81 85
-
(1994)
Brain Dev
, vol.16
, pp. 81-85
-
-
Worthen, HG1
Al Ashwal, A2
Ozand, PT3
-
11
-
-
0025910020
-
Cerebral edema causing death in children with maple syrup urine disease
-
Riviello JJ Jr Rezvani I Digeorge AM Cerebral edema causing death in children with maple syrup urine disease J Pediatr 119 1991 42 45
-
(1991)
J Pediatr
, vol.119
, pp. 42-45
-
-
Riviello, JJ1
Rezvani, I2
Digeorge, AM3
-
12
-
-
0025081401
-
Maple syrup urine disease: Findings on CT and MR scans of the brain in 10 infants
-
Brismar J Aqeel A Brismar G Maple syrup urine disease: Findings on CT and MR scans of the brain in 10 infants Am J Neuroradiol 11 1990 1219 1228
-
(1990)
Am J Neuroradiol
, vol.11
, pp. 1219-1228
-
-
Brismar, J1
Aqeel, A2
Brismar, G3
-
13
-
-
0026589951
-
Unique EEG pattern (comb-like rhythm) in neonatal maple syrup urine disease
-
Tharp BR Unique EEG pattern (comb-like rhythm) in neonatal maple syrup urine disease Pediatr Neurol 8 1992 65 68
-
(1992)
Pediatr Neurol
, vol.8
, pp. 65-68
-
-
Tharp, BR1
-
14
-
-
0029121111
-
Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry
-
Rashed MS Ozand PT Bucknall MP Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry Pediatr Res 38 1995 324 331
-
(1995)
Pediatr Res
, vol.38
, pp. 324-331
-
-
Rashed, MS1
Ozand, PT2
Bucknall, MP3
-
15
-
-
0022358997
-
First-trimester diagnosis of maple syrup urine disease on intact chorionic villi
-
(letter) Kleijer WJ Horsman D Mancini GM First-trimester diagnosis of maple syrup urine disease on intact chorionic villi N Engl J Med 313 1985 1608
-
(1985)
N Engl J Med
, vol.313
, pp. 1608
-
-
Kleijer, WJ1
Horsman, D2
Mancini, GM3
-
16
-
-
0025847951
-
Intellectual outcome in children with maple syrup urine disease
-
Kaplan P Mazur A Field M Intellectual outcome in children with maple syrup urine disease J Pediatr 119 1991 46 50
-
(1991)
J Pediatr
, vol.119
, pp. 46-50
-
-
Kaplan, P1
Mazur, A2
Field, M3
-
17
-
-
0014693222
-
Peritoneal dialysis in maple syrup urine disease
-
Sallan SE Cottom D Peritoneal dialysis in maple syrup urine disease Lancet 2 1969 1423 1424
-
(1969)
Lancet
, vol.2
, pp. 1423-1424
-
-
Sallan, SE1
Cottom, D2
-
18
-
-
0025117713
-
Neonatal hemodialysis: Effective therapy for encephalopathy of inborn errors of metabolism
-
Rutledge SL Havens PL Haymond MW Neonatal hemodialysis: Effective therapy for encephalopathy of inborn errors of metabolism J Pediatr 116 1990 125 128
-
(1990)
J Pediatr
, vol.116
, pp. 125-128
-
-
Rutledge, SL1
Havens, PL2
Haymond, MW3
-
19
-
-
0020373407
-
Maple syrup urine disease-therapeutic use of insulin in catabolic states
-
Wendel U Langenbeck U Lombeck I Maple syrup urine disease-therapeutic use of insulin in catabolic states Eur J Pediatr 139 1982 172 175
-
(1982)
Eur J Pediatr
, vol.139
, pp. 172-175
-
-
Wendel, U1
Langenbeck, U2
Lombeck, I3
-
20
-
-
84995046159
-
Treatment outcome of maple syrup urine disease
-
Snyderman SE Treatment outcome of maple syrup urine disease Acta Paediatr Jpn 30 1988 417 424
-
(1988)
Acta Paediatr Jpn
, vol.30
, pp. 417-424
-
-
Snyderman, SE1
-
21
-
-
85120108100
-
Normalization of plasma branched-chain aminoacids (BCAAs) after liver transplantation in maple syrup urine disease (MSUD)
-
Abstract P-129 Rabier D Narcy C Revillion HP Normalization of plasma branched-chain aminoacids (BCAAs) after liver transplantation in maple syrup urine disease (MSUD) 29th SSIEM Annual Symposium London September 10–13th 1991
-
(1991)
-
-
Rabier, D1
Narcy, C2
Revillion, HP3
-
22
-
-
0025852273
-
3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia
-
Ozand PT Al Aqeel A Gascon G 3-hydroxy-3-methylglutaryl-coenzyme A (HMG-CoA) lyase deficiency in Saudi Arabia J Inherit Metab Dis 14 1991 174 188
-
(1991)
J Inherit Metab Dis
, vol.14
, pp. 174-188
-
-
Ozand, PT1
Al Aqeel, A2
Gascon, G3
-
23
-
-
0030751763
-
Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles
-
Rashed MS Bucknall MP Little D Screening blood spots for inborn errors of metabolism by electrospray tandem mass spectrometry with a microplate batch process and a computer algorithm for automated flagging of abnormal profiles Clin Chem 43 1997 1129 1141
-
(1997)
Clin Chem
, vol.43
, pp. 1129-1141
-
-
Rashed, MS1
Bucknall, MP2
Little, D3
-
24
-
-
0028592520
-
Unusual presentations of propionic acidemia
-
(suppl) Ozand PT Rashed M Gascon GG Unusual presentations of propionic acidemia Brain Dev 16 1994 46 57
-
(1994)
Brain Dev
, vol.16
, pp. 46-57
-
-
Ozand, PT1
Rashed, M2
Gascon, GG3
-
25
-
-
0028366123
-
Propionic acidaemia: Clinical, biochemical and therapeutic aspects
-
(suppl) Lehnert W Sperl W Suormola T Propionic acidaemia: Clinical, biochemical and therapeutic aspects Eur J Pediatr 153 1994 S68 S80
-
(1994)
Eur J Pediatr
, vol.153
, pp. S68-S80
-
-
Lehnert, W1
Sperl, W2
Suormola, T3
-
26
-
-
0025181056
-
The use of metronidazole in management of methylmalonic and propionic acidemia
-
Thompson GN Chalmers RA Walter JH The use of metronidazole in management of methylmalonic and propionic acidemia Eur J Pediatr 149 1990 792 796
-
(1990)
Eur J Pediatr
, vol.149
, pp. 792-796
-
-
Thompson, GN1
Chalmers, RA2
Walter, JH3
-
27
-
-
0024246645
-
Acute extrapyramidal syndrome In methylmalonic acidemia: “Metabolic stroke” involving the globus pallidus
-
Heidenreich R Natowicz M Hainline BE Acute extrapyramidal syndrome In methylmalonic acidemia: “Metabolic stroke” involving the globus pallidus J Pediatr 113 1988 1022 1027
-
(1988)
J Pediatr
, vol.113
, pp. 1022-1027
-
-
Heidenreich, R1
Natowicz, M2
Hainline, BE3
-
28
-
-
0027464944
-
Tubulointerstitial nephritis in methylmalonic acidemia
-
Rutledge SL Geraghty M Mroczek E Tubulointerstitial nephritis in methylmalonic acidemia Pediatr Nephrol 7 1993 81 82
-
(1993)
Pediatr Nephrol
, vol.7
, pp. 81-82
-
-
Rutledge, SL1
Geraghty, M2
Mroczek, E3
-
29
-
-
0027080532
-
Cure of hepatic-based inborn errors of metabolism by liver transplantation
-
Ringe B Rodeck B Fangmann J Cure of hepatic-based inborn errors of metabolism by liver transplantation Transplant Proc 24 1992 2684 2686
-
(1992)
, pp. 2684-2686
-
-
Ringe, B1
Rodeck, B2
Fangmann, J3
-
30
-
-
0020539836
-
The natural history of the inherited methylmalonic acidemias
-
Matsui SM Mahoney MJ Rosenberg LE The natural history of the inherited methylmalonic acidemias N Engl J Med 308 1983 857 861
-
(1983)
N Engl J Med
, vol.308
, pp. 857-861
-
-
Matsui, SM1
Mahoney, MJ2
Rosenberg, LE3
-
31
-
-
0030032008
-
Clinical outcome and long-term management of 17 patients with propionic acidemia
-
Van der Meer Sb Poggi F Spada M Clinical outcome and long-term management of 17 patients with propionic acidemia Eur J Pediatr 155 1996 205 210
-
(1996)
Eur J Pediatr
, vol.155
, pp. 205-210
-
-
Van der Meer, Sb1
Poggi, F2
Spada, M3
-
32
-
-
0023184852
-
The inborn errors of mitochondrial fatty acid oxidation
-
Vianey-Liaud C Divry P Gregersen N The inborn errors of mitochondrial fatty acid oxidation J Inherit Metab Dis 10 suppl 1 1987 159 200
-
(1987)
J Inherit Metab Dis
, vol.10
, Issue.suppl 1
, pp. 159-200
-
-
Vianey-Liaud, C1
Divry, P2
Gregersen, N3
-
33
-
-
0026023968
-
3-hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacylcoenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment
-
Duran M Wanders RJ de Jager JP 3-hydroxydicarboxylic aciduria due to long-chain 3-hydroxyacylcoenzyme A dehydrogenase deficiency associated with sudden neonatal death: protective effect of medium-chain triglyceride treatment Eur J Pediatr 150 1991 190 195
-
(1991)
Eur J Pediatr
, vol.150
, pp. 190-195
-
-
Duran, M1
Wanders, RJ2
de Jager, JP3
-
34
-
-
0020363432
-
In vitro fibroblast studies in a patient with C6–C10 dicarboxylic aciduria: Evidence for a defect in general acyl-CoA dehydrogenase
-
Kolvraa S Gregersen N Christensen E In vitro fibroblast studies in a patient with C6–C10 dicarboxylic aciduria: Evidence for a defect in general acyl-CoA dehydrogenase Clin Chim Acta 126 1982 53 67
-
(1982)
Clin Chim Acta
, vol.126
, pp. 53-67
-
-
Kolvraa, S1
Gregersen, N2
Christensen, E3
-
35
-
-
0017066379
-
Suberylglycine excretion in urine from a patient with dicarboxylic aciduria
-
Gregersen N Lauritzen R Rasmussen K Suberylglycine excretion in urine from a patient with dicarboxylic aciduria Clin Chim Acta 70 1976 417 425
-
(1976)
Clin Chim Acta
, vol.70
, pp. 417-425
-
-
Gregersen, N1
Lauritzen, R2
Rasmussen, K3
-
36
-
-
0028919340
-
Isoalloxazine ring of FAD is required for the formation of the core in the Hsp60-assisted folding of medium chain acyl-CoA dehydrogenase subunit into the assembly competent conformation in mitochondria
-
Saijo T Tanaka K Isoalloxazine ring of FAD is required for the formation of the core in the Hsp60-assisted folding of medium chain acyl-CoA dehydrogenase subunit into the assembly competent conformation in mitochondria J Biol Chem 270 1995 1899 1907
-
(1995)
J Biol Chem
, vol.270
, pp. 1899-1907
-
-
Saijo, T1
Tanaka, K2
-
37
-
-
0031982409
-
Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency
-
Bross P Andresen BS Gregersen N Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency Progr Nuc Ac Res Mol Biol 58 1998 301 337
-
(1998)
Progr Nuc Ac Res Mol Biol
, vol.58
, pp. 301-337
-
-
Bross, P1
Andresen, BS2
Gregersen, N3
-
38
-
-
8244246432
-
Biochemical characterization of purified human recombinant Lys304-Glu medium-chain acyl-CoA dehydrogenase containing the common disease-causing mutation and comparison with the normal enzyme
-
Kieweg V Krautle FG Nandy A Biochemical characterization of purified human recombinant Lys304-Glu medium-chain acyl-CoA dehydrogenase containing the common disease-causing mutation and comparison with the normal enzyme Eur J Biochem 246 1997 548 556
-
(1997)
Eur J Biochem
, vol.246
, pp. 548-556
-
-
Kieweg, V1
Krautle, FG2
Nandy, A3
-
39
-
-
0029185766
-
Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency
-
(suppl) Andresen BS Bross P Jensen TG Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency Scan J Clin Lab Invest 220 1995 9 25
-
(1995)
Scan J Clin Lab Invest
, vol.220
, pp. 9-25
-
-
Andresen, BS1
Bross, P2
Jensen, TG3
-
40
-
-
0026517016
-
Medium-chain acyl-CoA dehydrogenase deficiency: Molecular aspects (review)
-
Matsubara U Narisawa K Tada K Medium-chain acyl-CoA dehydrogenase deficiency: Molecular aspects (review) Eur J Pediatr 151 1992 154 159
-
(1992)
Eur J Pediatr
, vol.151
, pp. 154-159
-
-
Matsubara, U1
Narisawa, K2
Tada, K3
-
41
-
-
0028899006
-
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: Neonatal screening shows high incidence and unexpected mutation frequencies
-
Ziadeh R Hoffman EP Finegold DN Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: Neonatal screening shows high incidence and unexpected mutation frequencies Pediatr Res 37 1995 675 678
-
(1995)
Pediatr Res
, vol.37
, pp. 675-678
-
-
Ziadeh, R1
Hoffman, EP2
Finegold, DN3
-
42
-
-
0027432653
-
Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) occur in Alu repeats
-
Zhang Z Kolvraa S Zhou Y Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) occur in Alu repeats Am J Hum Gen 52 1993 1111 1121
-
(1993)
Am J Hum Gen
, vol.52
, pp. 1111-1121
-
-
Zhang, Z1
Kolvraa, S2
Zhou, Y3
-
43
-
-
0026322069
-
Molecular survey of a prevalent mutation, (985) A-to-G transition, and identification of five infrequent mutations in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency
-
Yokota I Coates PM Hale DE Molecular survey of a prevalent mutation, (985) A-to-G transition, and identification of five infrequent mutations in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency Am J Hum Gen 49 1991 1280 1291
-
(1991)
Am J Hum Gen
, vol.49
, pp. 1280-1291
-
-
Yokota, I1
Coates, PM2
Hale, DE3
-
45
-
-
0021053314
-
Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels
-
Stanley CA Hale DE Coates PM Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels Pediatr Res 17 1983 877 884
-
(1983)
Pediatr Res
, vol.17
, pp. 877-884
-
-
Stanley, CA1
Hale, DE2
Coates, PM3
-
46
-
-
0023850314
-
Acyl-coenzyme A dehydrogenase deficiency in heart tissue from infants who died unexpectedly with fatty change in liver
-
Allison F Bennett MJ Vriend S Acyl-coenzyme A dehydrogenase deficiency in heart tissue from infants who died unexpectedly with fatty change in liver Br Med J Clin Res Ed 296 1988 11 12
-
(1988)
Br Med J Clin Res Ed
, vol.296
, pp. 11-12
-
-
Allison, F1
Bennett, MJ2
Vriend, S3
-
47
-
-
0022638172
-
Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes
-
Roe CR Millington DS Maltby DA Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes J Pediatr 108 1986 13 18
-
(1986)
J Pediatr
, vol.108
, pp. 13-18
-
-
Roe, CR1
Millington, DS2
Maltby, DA3
-
48
-
-
0022991503
-
Sudden child death and ‘healthy’ affected embers with medium-chain acyl-coenzyme A dehydrogenase deficiency
-
Duran M Hofkamp M Rhead WJ Sudden child death and ‘healthy’ affected embers with medium-chain acyl-coenzyme A dehydrogenase deficiency Pediatrics 78 1986 1052 1057
-
(1986)
Pediatrics
, vol.78
, pp. 1052-1057
-
-
Duran, M1
Hofkamp, M2
Rhead, WJ3
-
49
-
-
0024498757
-
Octanoic acid inhibits astrocyte volume control: Implications for cerebral edema in Reye's syndrome
-
Olson JE Holtzman D Sankar R Octanoic acid inhibits astrocyte volume control: Implications for cerebral edema in Reye's syndrome J Neurochem 52 1989 1197 1202
-
(1989)
J Neurochem
, vol.52
, pp. 1197-1202
-
-
Olson, JE1
Holtzman, D2
Sankar, R3
-
50
-
-
0030966810
-
Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity
-
Njolstad PR Skjeldal OH Agsteribbe E Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity Pediatr Neurol 16 1997 160 162
-
(1997)
Pediatr Neurol
, vol.16
, pp. 160-162
-
-
Njolstad, PR1
Skjeldal, OH2
Agsteribbe, E3
-
51
-
-
0028265830
-
Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children
-
Iafolla AK Thompson RJ Rope CR Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children J Pediatr 124 1994 409 415
-
(1994)
J Pediatr
, vol.124
, pp. 409-415
-
-
Iafolla, AK1
Thompson, RJ2
Rope, CR3
-
52
-
-
0030062643
-
The A985 to G mutation of the medium-chain acyl-CoA dehydrogenase gene and sudden infant death syndrome in Normandy
-
Lecoq I Mallet E Bonte JB The A985 to G mutation of the medium-chain acyl-CoA dehydrogenase gene and sudden infant death syndrome in Normandy Acta Paediatr 85 1996 145 147
-
(1996)
Acta Paediatr
, vol.85
, pp. 145-147
-
-
Lecoq, I1
Mallet, E2
Bonte, JB3
-
53
-
-
0031904754
-
Prospective surveillance study of medium chain acyl-CoA deficiency in UK
-
Pollitt RJ Leonard JV Prospective surveillance study of medium chain acyl-CoA deficiency in UK Arch Dis Child 79 1998 116 119
-
(1998)
Arch Dis Child
, vol.79
, pp. 116-119
-
-
Pollitt, RJ1
Leonard, JV2
-
54
-
-
0026560962
-
Frequency of medium-chain acyl-CoA dehydrogenase deficiency C-985 mutation in sudden infant death syndrome
-
Miller ME Brooks JG Forbes N Frequency of medium-chain acyl-CoA dehydrogenase deficiency C-985 mutation in sudden infant death syndrome Pediatr Res 31 1992 305 307
-
(1992)
Pediatr Res
, vol.31
, pp. 305-307
-
-
Miller, ME1
Brooks, JG2
Forbes, N3
-
55
-
-
0031903920
-
Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry
-
Clayton PT Doig M Chafari S Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry Arch Dis Child 79 1998 109 115
-
(1998)
Arch Dis Child
, vol.79
, pp. 109-115
-
-
Clayton, PT1
Doig, M2
Chafari, S3
-
56
-
-
0026683892
-
Prevalence of K329E mutation in the medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards
-
Matsubara Y Narisawa K Tada K Prevalence of K329E mutation in the medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards Prog Clin Biol Res 375 1992 453 462
-
(1992)
Prog Clin Biol Res
, vol.375
, pp. 453-462
-
-
Matsubara, Y1
Narisawa, K2
Tada, K3
-
57
-
-
0031056949
-
Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system
-
Seddon HR Gray G Pollitt RJ Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system Clin Chem 43 1997 436 442
-
(1997)
Clin Chem
, vol.43
, pp. 436-442
-
-
Seddon, HR1
Gray, G2
Pollitt, RJ3
-
58
-
-
0025302523
-
Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings
-
Catzeflis C Bachmann C Hale DE Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings Eur J Pediatr 149 1990 577 581
-
(1990)
Eur J Pediatr
, vol.149
, pp. 577-581
-
-
Catzeflis, C1
Bachmann, C2
Hale, DE3
-
59
-
-
0024336465
-
Medium-chain acyl-CoA dehydrogenase deficiency: Metabolic effects and therapeutic efficacy of long-term-L-carnitine supplementation
-
Treem WR Stanley CA Goodman SI Medium-chain acyl-CoA dehydrogenase deficiency: Metabolic effects and therapeutic efficacy of long-term-L-carnitine supplementation J Inherit Metab Dis 12 1989 112 119
-
(1989)
J Inherit Metab Dis
, vol.12
, pp. 112-119
-
-
Treem, WR1
Stanley, CA2
Goodman, SI3
-
60
-
-
0021873302
-
Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia
-
Hale DE Batshaw ML Coates PM Long-chain acyl coenzyme A dehydrogenase deficiency: an inherited cause of nonketotic hypoglycemia Pediatr Res 19 1985 666 671
-
(1985)
Pediatr Res
, vol.19
, pp. 666-671
-
-
Hale, DE1
Batshaw, ML2
Coates, PM3
-
61
-
-
0020540868
-
Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium diet
-
Glasgow AM Engel AG Bier DM Hypoglycemia, hepatic dysfunction, muscle weakness, cardiomyopathy, free carnitine deficiency and long-chain acylcarnitine excess responsive to medium diet Pediatr Res 17 1983 319 326
-
(1983)
Pediatr Res
, vol.17
, pp. 319-326
-
-
Glasgow, AM1
Engel, AG2
Bier, DM3
-
62
-
-
0032509853
-
Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: Clinical characteristics and diagnostic considerations in 30 patients
-
Vianey-Saban C Divry P Brivet M Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: Clinical characteristics and diagnostic considerations in 30 patients Clin Chim Acta 269 1998 43 62
-
(1998)
Clin Chim Acta
, vol.269
, pp. 43-62
-
-
Vianey-Saban, C1
Divry, P2
Brivet, M3
-
63
-
-
0026096951
-
Hypoglycemia, hypotonia, and cardiomyopathy: The evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency
-
Treem WR Stanley CA Hale DE Hypoglycemia, hypotonia, and cardiomyopathy: The evolving clinical picture of long-chain acyl-CoA dehydrogenase deficiency Pediatrics 87 1991 328 333
-
(1991)
Pediatrics
, vol.87
, pp. 328-333
-
-
Treem, WR1
Stanley, CA2
Hale, DE3
-
64
-
-
0029078041
-
Purification of human very-long-chain acyl-coenzyme, A dehydrogenase and characterization of its deficiency in seven patients
-
Aoyama T Souri M Ushikubo S Purification of human very-long-chain acyl-coenzyme, A dehydrogenase and characterization of its deficiency in seven patients J Clin Invest 95 1995 2465 2473
-
(1995)
J Clin Invest
, vol.95
, pp. 2465-2473
-
-
Aoyama, T1
Souri, M2
Ushikubo, S3
-
65
-
-
0029942525
-
Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course
-
Merinero B Perez-Cerda C Garcia MJ Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course J Inherit Metab Dis 19 1996 173 176
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 173-176
-
-
Merinero, B1
Perez-Cerda, C2
Garcia, MJ3
-
66
-
-
0031847939
-
The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency
-
Costa CG Dorland L de Almeida IT The effect of fasting, long-chain triglyceride load and carnitine load on plasma long-chain acylcarnitine levels in mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency J Inherit Metab Dis 21 1998 391 399
-
(1998)
J Inherit Metab Dis
, vol.21
, pp. 391-399
-
-
Costa, CG1
Dorland, L2
de Almeida, IT3
-
67
-
-
13044277575
-
Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation
-
Kurtz DM Rinaldo P Rhead WJ Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation Proc Natl Acad Sci USA 95 1998 15592 15597
-
(1998)
, pp. 15592-15597
-
-
Kurtz, DM1
Rinaldo, P2
Rhead, WJ3
-
68
-
-
0027207327
-
Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency
-
Yamaguchi S Indo Y Coates PM Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency Pediatr Res 34 1993 111 113
-
(1993)
Pediatr Res
, vol.34
, pp. 111-113
-
-
Yamaguchi, S1
Indo, Y2
Coates, PM3
-
69
-
-
0026001394
-
Induction of myocardial hypertrophy after coronary ligation in rats decreases ventricular dilatation and improves systolic function
-
Litwin SE Raya TE Anderson PG Induction of myocardial hypertrophy after coronary ligation in rats decreases ventricular dilatation and improves systolic function Circulation 84 1991 1819 1827
-
(1991)
Circulation
, vol.84
, pp. 1819-1827
-
-
Litwin, SE1
Raya, TE2
Anderson, PG3
-
70
-
-
0024551414
-
Prophylaxis of carly ventricular fibrillation by inhibition of acylcarni-tine accumulation
-
Corr PB Creer MH Yamada KA Prophylaxis of carly ventricular fibrillation by inhibition of acylcarni-tine accumulation J Clin Invest 83 1989 927 936
-
(1989)
J Clin Invest
, vol.83
, pp. 927-936
-
-
Corr, PB1
Creer, MH2
Yamada, KA3
-
71
-
-
0033069578
-
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency
-
Andresen BS Olpin S Poorthuis BJ Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency Am J Hum Gen 64 1999 479 494
-
(1999)
Am J Hum Gen
, vol.64
, pp. 479-494
-
-
Andresen, BS1
Olpin, S2
Poorthuis, BJ3
-
72
-
-
0030919172
-
Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency
-
Straussberg R Harel L Varsano I Recurrent myoglobinuria as a presenting manifestation of very long chain acyl coenzyme A dehydrogenase deficiency Pediatrics 99 1997 894 896
-
(1997)
Pediatrics
, vol.99
, pp. 894-896
-
-
Straussberg, R1
Harel, L2
Varsano, I3
-
73
-
-
0030175496
-
Very long chain acyl-CoA dehydrogenase deficiency: Successful treatment of acute cardiomyopathy
-
Brown-Harrison MC Nada MA Sprecher H Very long chain acyl-CoA dehydrogenase deficiency: Successful treatment of acute cardiomyopathy Biochem Mol Med 58 1996 59 65
-
(1996)
Biochem Mol Med
, vol.58
, pp. 59-65
-
-
Brown-Harrison, MC1
Nada, MA2
Sprecher, H3
-
74
-
-
0031904074
-
Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency
-
Cox GF Souri M Aoyama T Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency J Pediatr 133 1998 247 253
-
(1998)
J Pediatr
, vol.133
, pp. 247-253
-
-
Cox, GF1
Souri, M2
Aoyama, T3
-
75
-
-
0029020112
-
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype
-
Ijlst L Uskikubo S Kamijo T Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: high frequency of the G1528C mutation with no apparent correlation with the clinical phenotype J Inherit Metab Dis 18 1995 241 244
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 241-244
-
-
Ijlst, L1
Uskikubo, S2
Kamijo, T3
-
76
-
-
0029063809
-
Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
-
Hagenfeldt L Venizelos N Von Dobeln U Clinical and biochemical presentation of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency J Inherit Metab Dis 18 1995 245 248
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 245-248
-
-
Hagenfeldt, L1
Venizelos, N2
Von Dobeln, U3
-
77
-
-
0030775662
-
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients
-
Tyni T Palotie A Viinikka L Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients J Pediatr 130 1997 67 76
-
(1997)
J Pediatr
, vol.130
, pp. 67-76
-
-
Tyni, T1
Palotie, A2
Viinikka, L3
-
78
-
-
0025886291
-
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients
-
Wanders RJ Ijlst L Duran M Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: different clinical expression in three unrelated patients J Inherit Metab Dis 14 1991 325 328
-
(1991)
J Inherit Metab Dis
, vol.14
, pp. 325-328
-
-
Wanders, RJ1
Ijlst, L2
Duran, M3
-
79
-
-
0025242644
-
Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: A cause of lethal myopathy and cardiomyopathy in early childhood
-
Rocchicioli F Wanders RJ Aubourg P Deficiency of long-chain 3-hydroxyacyl-CoA dehydrogenase: A cause of lethal myopathy and cardiomyopathy in early childhood Pediatr Res 28 1990 657 662
-
(1990)
Pediatr Res
, vol.28
, pp. 657-662
-
-
Rocchicioli, F1
Wanders, RJ2
Aubourg, P3
-
80
-
-
0026023968
-
3-Hydroxydi-caboxylic aciduria due to long-chain 3-hydroxy-acylcoenzyme A dehydrogenase deficiency associated with sudden neonatal death: Protective effect of medium-chain triglyceride treatment
-
Duran N Wanders RJ de Jager JP 3-Hydroxydi-caboxylic aciduria due to long-chain 3-hydroxy-acylcoenzyme A dehydrogenase deficiency associated with sudden neonatal death: Protective effect of medium-chain triglyceride treatment Eur J Pediatr 150 1991 190 195
-
(1991)
Eur J Pediatr
, vol.150
, pp. 190-195
-
-
Duran, N1
Wanders, RJ2
de Jager, JP3
-
81
-
-
0031808147
-
Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation
-
Tyni T Pihko H Kivela T Ophthalmic pathology in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency caused by the G1528C mutation Curr Eye Res 17 1998 551 559
-
(1998)
Curr Eye Res
, vol.17
, pp. 551-559
-
-
Tyni, T1
Pihko, H2
Kivela, T3
-
82
-
-
0029803779
-
Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
-
Treem WR Shoup ME Hale DE Acute fatty liver of pregnancy, hemolysis, elevated liver enzymes, and low platelets syndrome, and long chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Am J Gastroenterol 91 1996 2293 2300
-
(1996)
Am J Gastroenterol
, vol.91
, pp. 2293-2300
-
-
Treem, WR1
Shoup, ME2
Hale, DE3
-
83
-
-
0031981027
-
Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency
-
Tyni T Ekholm E Pihko H Pregnancy complications are frequent in long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency Am J obst Gynecol 178 1998 603 608
-
(1998)
Am J obst Gynecol
, vol.178
, pp. 603-608
-
-
Tyni, T1
Ekholm, E2
Pihko, H3
-
84
-
-
0025138203
-
Clinical and biochemical presentations in 20 cases of hydroxydicarboxylic Aciduria
-
Politt RJ Clinical and biochemical presentations in 20 cases of hydroxydicarboxylic Aciduria Tanaka K Coates PM Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects 1990 Allan R. Liss New York, NY 495 502
-
(1990)
, pp. 495-502
-
-
Politt, RJ1
-
85
-
-
0027310849
-
First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk
-
Perez-Cerda C Merinero B Jimenez A First report of prenatal diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in a pregnancy at risk Prenat Diag 13 1993 529 533
-
(1993)
Prenat Diag
, vol.13
, pp. 529-533
-
-
Perez-Cerda, C1
Merinero, B2
Jimenez, A3
-
86
-
-
0033018283
-
Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency neuropathy: Response to cod liver oil
-
Tein I Vajsar J MacMillan L Long-chain L-3-hydroxyacyl-coenzyme A dehydrogenase deficiency neuropathy: Response to cod liver oil Neurol 52 1999 640 643
-
(1999)
Neurol
, vol.52
, pp. 640-643
-
-
Tein, I1
Vajsar, J2
MacMillan, L3
-
87
-
-
0025138202
-
Clinical and biochemical aspects of glutaric acidemia type II
-
Goodman SI Loehr JP Frerman FE Clinical and biochemical aspects of glutaric acidemia type II Prog Clin Biol Res 321 1990 465 476
-
(1990)
Prog Clin Biol Res
, vol.321
, pp. 465-476
-
-
Goodman, SI1
Loehr, JP2
Frerman, FE3
-
88
-
-
0023025328
-
Biosynthesis of electron transfer flavoprotein in a cell-Free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II
-
Ikeda Y Keese SM Tanaka K Biosynthesis of electron transfer flavoprotein in a cell-Free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II J Clin Invest 78 1986 997 1002
-
(1986)
J Clin Invest
, vol.78
, pp. 997-1002
-
-
Ikeda, Y1
Keese, SM2
Tanaka, K3
-
89
-
-
0022347073
-
Electron-transfer flavoprotein-ubiquinone oxidoreductase from pig liver: Purification and molecular, redox, and catalytic properties
-
Beckmann JD Frerman FE Electron-transfer flavoprotein-ubiquinone oxidoreductase from pig liver: Purification and molecular, redox, and catalytic properties Biochemistry 24 1985 3913 3921
-
(1985)
Biochemistry
, vol.24
, pp. 3913-3921
-
-
Beckmann, JD1
Frerman, FE2
-
90
-
-
0020678009
-
Glutaric acidemia type II: A form with deleterious intrauterine effects
-
Goodman SI Reale M Berlow S Glutaric acidemia type II: A form with deleterious intrauterine effects J Pediatr 102 1983 411 413
-
(1983)
J Pediatr
, vol.102
, pp. 411-413
-
-
Goodman, SI1
Reale, M2
Berlow, S3
-
91
-
-
0019984852
-
Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings
-
Lehnert W Wendel U Lindenmaier S Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two brothers. I. Clinical, metabolical, and biochemical findings Eur J Pediatr 139 1982 56 59
-
(1982)
Eur J Pediatr
, vol.139
, pp. 56-59
-
-
Lehnert, W1
Wendel, U2
Lindenmaier, S3
-
92
-
-
0021135951
-
Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency)
-
Goodman SI Frerman FE Glutaric acidaemia type II (multiple acyl-CoA dehydrogenation deficiency) J Inherit Metab Dis 7 suppl 1 1984 33 37
-
(1984)
J Inherit Metab Dis
, vol.7
, Issue.suppl 1
, pp. 33-37
-
-
Goodman, SI1
Frerman, FE2
-
93
-
-
0016898095
-
Glutaric aciduria type II: Report on a previously undescribed metabolic disorder
-
Przyrembel H Wendel U Becker K Glutaric aciduria type II: Report on a previously undescribed metabolic disorder Clin Chim Acta 66 1976 227 239
-
(1976)
Clin Chim Acta
, vol.66
, pp. 227-239
-
-
Przyrembel, H1
Wendel, U2
Becker, K3
-
94
-
-
0020528080
-
Multiple acyl-CoA dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide
-
Niederwieser A Steinmann B Exner U Multiple acyl-CoA dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide Helv Paediatr Acta 38 1983 9 26
-
(1983)
Helv Paediatr Acta
, vol.38
, pp. 9-26
-
-
Niederwieser, A1
Steinmann, B2
Exner, U3
-
95
-
-
0027948406
-
Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency
-
Antozzi C Garavaglia B Mora M Late-onset riboflavin-responsive myopathy with combined multiple acyl coenzyme A dehydrogenase and respiratory chain deficiency Neurol 44 1994 2153 2158
-
(1994)
Neurol
, vol.44
, pp. 2153-2158
-
-
Antozzi, C1
Garavaglia, B2
Mora, M3
-
96
-
-
0028110252
-
A riboflavin-responsive lipid storage myopathy due to multiple acyl-CoA dehydrogenase deficiency: An adult case
-
Araki E Kobayashi T Kohtake N A riboflavin-responsive lipid storage myopathy due to multiple acyl-CoA dehydrogenase deficiency: An adult case J Neurol Sci 126 1994 202 205
-
(1994)
J Neurol Sci
, vol.126
, pp. 202-205
-
-
Araki, E1
Kobayashi, T2
Kohtake, N3
-
97
-
-
0026528269
-
Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: An adult case
-
Mongini T Doriguzzi C Palmucci I Lipid storage myopathy in multiple acyl-CoA dehydrogenase deficiency: An adult case Eur Neurol 32 1992 170 176
-
(1992)
Eur Neurol
, vol.32
, pp. 170-176
-
-
Mongini, T1
Doriguzzi, C2
Palmucci, I3
-
98
-
-
0026687554
-
Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver
-
Scholte HR Ross JD Blow W Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver J Inherit Metab Dis 15 1992 347 352
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 347-352
-
-
Scholte, HR1
Ross, JD2
Blow, W3
-
99
-
-
0038275335
-
Deficiency of electron transfer flavoprotein or electron transfer flavoprotein: Ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts
-
Frerman FE Goodman SI Deficiency of electron transfer flavoprotein or electron transfer flavoprotein: Ubiquinone oxidoreductase in glutaric acidemia type II fibroblasts Proc Natl Acad Sci USA 82 1985 4517 4520
-
(1985)
, pp. 4517-4520
-
-
Frerman, FE1
Goodman, SI2
-
100
-
-
0022606722
-
Riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Assessment of 3 years of riboflavin treatment
-
Gregersen N Christensen MF Christensen E Riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Assessment of 3 years of riboflavin treatment Acta Paediatr Scand 75 1986 676 681
-
(1986)
Acta Paediatr Scand
, vol.75
, pp. 676-681
-
-
Gregersen, N1
Christensen, MF2
Christensen, E3
-
101
-
-
0022639765
-
Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset
-
de Visser M Scholte HR Schutgens RB Riboflavin-responsive lipid-storage myopathy and glutaric aciduria type II of early adult onset Neurol 36 1986 367 372
-
(1986)
Neurol
, vol.36
, pp. 367-372
-
-
de Visser, M1
Scholte, HR2
Schutgens, RB3
-
102
-
-
0025879634
-
Possible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria)
-
Green A Preece MA de Sousa C Possible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria) J Inherit Metab Dis 14 1991 691 697
-
(1991)
J Inherit Metab Dis
, vol.14
, pp. 691-697
-
-
Green, A1
Preece, MA2
de Sousa, C3
-
103
-
-
0030041154
-
Mitochondrial short-chain 1-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A new defect of fatty acid oxidation
-
Bennett MJ Weinberger MJ Kobori JA Mitochondrial short-chain 1-3-hydroxyacyl-coenzyme A dehydrogenase deficiency: A new defect of fatty acid oxidation Pediatr Res 39 1996 185 188
-
(1996)
Pediatr Res
, vol.39
, pp. 185-188
-
-
Bennett, MJ1
Weinberger, MJ2
Kobori, JA3
-
104
-
-
0029020109
-
A patient with lethal cardiomyopathy and carnitine-acylcarnitine translocase deficiency
-
Niezen-Koning KE van Spronsen FJ Ijlst L A patient with lethal cardiomyopathy and carnitine-acylcarnitine translocase deficiency J Inherit Metab Dis 18 1995 230 232
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 230-232
-
-
Niezen-Koning, KE1
van Spronsen, FJ2
Ijlst, L3
-
105
-
-
0031940967
-
A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype
-
Morris AA Olpin SE Brivet M A patient with carnitine-acylcarnitine translocase deficiency with a mild phenotype J Pediatr 132 1998 514 516
-
(1998)
J Pediatr
, vol.132
, pp. 514-516
-
-
Morris, AA1
Olpin, SE2
Brivet, M3
-
106
-
-
0030688009
-
Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death
-
Chalmers RA Stanley CA English N Mitochondrial carnitine-acylcarnitine translocase deficiency presenting as sudden neonatal death J Pediatr 131 1997 220 225
-
(1997)
J Pediatr
, vol.131
, pp. 220-225
-
-
Chalmers, RA1
Stanley, CA2
English, N3
-
107
-
-
0029985828
-
Retrospective diagnosis of carnitine-acylcarnitine transferase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents
-
Brivet M Slama A Millington DS Retrospective diagnosis of carnitine-acylcarnitine transferase deficiency by acylcarnitine analysis in the proband Guthrie card and enzymatic studies in the parents J Inherit Metab Dis 19 1996 181 184
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 181-184
-
-
Brivet, M1
Slama, A2
Millington, DS3
-
108
-
-
0026703357
-
Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane
-
Stanley CA Hale DE Berry GT Brief report: a deficiency of carnitine-acylcarnitine translocase in the inner mitochondrial membrane N Engl J Med 327 1992 19 23
-
(1992)
N Engl J Med
, vol.327
, pp. 19-23
-
-
Stanley, CA1
Hale, DE2
Berry, GT3
-
109
-
-
0010433737
-
Carnitine plamityltransferase (CPT) deficiency: A review
-
Dimauro S Trevisan C Carnitine plamityltransferase (CPT) deficiency: A review Schotland DL Disorders of the Motor Unit 1982 John Wiley & Sons New York, NY 657 666
-
(1982)
, pp. 657-666
-
-
Dimauro, S1
Trevisan, C2
-
110
-
-
0023720123
-
Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: Two distinct entities
-
Demaugre F Bonnefont JP Mitchell G Hepatic and muscular presentations of carnitine palmitoyl transferase deficiency: Two distinct entities Pediatr Res 24 1988 308 311
-
(1988)
Pediatr Res
, vol.24
, pp. 308-311
-
-
Demaugre, F1
Bonnefont, JP2
Mitchell, G3
-
111
-
-
0026596855
-
Development and characterization of a polyclonal antibody against rat liver mitochondrial overt carnitinepalmitoyl transferase (CPT I). Distinction of CPT I from CPT II and isoforms of CPT I in different tissues
-
Kolodziej MP Crilly PJ Cortrophine CG Development and characterization of a polyclonal antibody against rat liver mitochondrial overt carnitinepalmitoyl transferase (CPT I). Distinction of CPT I from CPT II and isoforms of CPT I in different tissues Biochem J 282 1992 415 421
-
(1992)
Biochem J
, vol.282
, pp. 415-421
-
-
Kolodziej, MP1
Crilly, PJ2
Cortrophine, CG3
-
112
-
-
0024316151
-
Deficiency of carnitine palmitoyl transferase I
-
Bonnefont JP Haas R Wolff J Deficiency of carnitine palmitoyl transferase I J Child Neurol 4 1989 198 203
-
(1989)
J Child Neurol
, vol.4
, pp. 198-203
-
-
Bonnefont, JP1
Haas, R2
Wolff, J3
-
113
-
-
0026736847
-
Elevated plasma carnitine in the hepatic form of carnitine palmitoyl transferase-1 deficiency
-
Stanley CA Sunaryo F Hale DE Elevated plasma carnitine in the hepatic form of carnitine palmitoyl transferase-1 deficiency J Inherit Metab Dis 15 1992 785 789
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 785-789
-
-
Stanley, CA1
Sunaryo, F2
Hale, DE3
-
114
-
-
0026744360
-
Atypical features of the hepatic form of carnitine palmitoyl transferase deficiency in a Hutterite family
-
Haworth J Demaugre F Boothe FA Atypical features of the hepatic form of carnitine palmitoyl transferase deficiency in a Hutterite family J Pediatr 121 1992 553 557
-
(1992)
J Pediatr
, vol.121
, pp. 553-557
-
-
Haworth, J1
Demaugre, F2
Boothe, FA3
-
115
-
-
0026514784
-
Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification
-
Mitsubuchi H Matsuda I Nobukuni Y Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification J Inherit Metab Dis 15 1992 181 187
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 181-187
-
-
Mitsubuchi, H1
Matsuda, I2
Nobukuni, Y3
-
116
-
-
0025911244
-
Maple syrup urine disease. Complete defect of the E1 βsubunit of the branched chain α-keto acid dehydrogenase complex due to a deletion of an 11 bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease
-
Nobukuni Y Mitsubuchi H Akaboshi I Maple syrup urine disease. Complete defect of the E1 βsubunit of the branched chain α-keto acid dehydrogenase complex due to a deletion of an 11 bp repeat sequence which encodes a mitochondrial targeting leader peptide in a family with the disease J Clin Invest 87 1991 1862 1866
-
(1991)
J Clin Invest
, vol.87
, pp. 1862-1866
-
-
Nobukuni, Y1
Mitsubuchi, H2
Akaboshi, I3
-
117
-
-
0027198870
-
Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient
-
Liu TC Kim H Arizmendi C Identification of two missense mutations in a dihydrolipoamide dehydrogenase-deficient patient Proc Natl Acad Sci USA 90 1993 5186 5190
-
(1993)
, pp. 5186-5190
-
-
Liu, TC1
Kim, H2
Arizmendi, C3
-
118
-
-
17344366692
-
HMG CoA lyase deficiency: Identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q
-
Mitchell GA Ozand PT Robert MF HMG CoA lyase deficiency: Identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q Am J Hum Genet 62 1998 295 300
-
(1998)
Am J Hum Genet
, vol.62
, pp. 295-300
-
-
Mitchell, GA1
Ozand, PT2
Robert, MF3
-
119
-
-
0024308336
-
Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients
-
Ohura T Kraus JP Rosenberg LE Unequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients Am J Hum Genet 45 1989 33 40
-
(1989)
Am J Hum Genet
, vol.45
, pp. 33-40
-
-
Ohura, T1
Kraus, JP2
Rosenberg, LE3
-
120
-
-
0031956593
-
Seven novel mutations in must methylmalonic aciduria
-
Adjalla CE Hosack AR Gilfix BM Seven novel mutations in must methylmalonic aciduria Hum Mutat 11 1998 270 274
-
(1998)
Hum Mutat
, vol.11
, pp. 270-274
-
-
Adjalla, CE1
Hosack, AR2
Gilfix, BM3
-
121
-
-
0029919211
-
The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency
-
Andresen BS Vianey-Saban C Bross The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency J Inherit Metab Dis 19 1996 169 172
-
(1996)
J Inherit Metab Dis
, vol.19
, pp. 169-172
-
-
Andresen, BS1
Vianey-Saban, C2
Bross3
-
122
-
-
0025938637
-
Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II—and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient
-
Indo Y Glassberg R Yokota I Molecular characterization of variant alpha-subunit of electron transfer flavoprotein in three patients with glutaric acidemia type II—and identification of glycine substitution for valine-157 in the sequence of the precursor, producing an unstable mature protein in a patient Am J Hum Gen 49 1991 575 580
-
(1991)
Am J Hum Gen
, vol.49
, pp. 575-580
-
-
Indo, Y1
Glassberg, R2
Yokota, I3
-
123
-
-
0026454729
-
Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients
-
Freneaux E Sheffield VC Molin L Glutaric acidemia type II. Heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha subunit of electron transfer flavoprotein in eight patients J Clin Invest 90 1992 1679 1686
-
(1992)
J Clin Invest
, vol.90
, pp. 1679-1686
-
-
Freneaux, E1
Sheffield, VC2
Molin, L3
-
124
-
-
17344366560
-
Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient
-
Huizing M Iacobazzi V Ijlst L Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient Am J Hum Gen 61 1997 1239 1245
-
(1997)
Am J Hum Gen
, vol.61
, pp. 1239-1245
-
-
Huizing, M1
Iacobazzi, V2
Ijlst, L3
-
125
-
-
0032145885
-
Molecular basis of hepatic carnitine palmitoyltransferase I deficiency
-
Ijlst L Mandel H Oostheim W Molecular basis of hepatic carnitine palmitoyltransferase I deficiency J Clin Invest 102 1998 527 531
-
(1998)
J Clin Invest
, vol.102
, pp. 527-531
-
-
Ijlst, L1
Mandel, H2
Oostheim, W3
-
126
-
-
85120128165
-
Evaluation of a newborn with a potential metabolic defect
-
Ozand PT Evaluation of a newborn with a potential metabolic defect Cowett R Principles of Perinatal-Neonatal Metabolism 1998 Springer-Verlag New York, NY 1201 1242
-
(1998)
, pp. 1201-1242
-
-
Ozand, PT1
-
127
-
-
0032924833
-
Application of electrospray tandem mass spectrometry to neonatal screening
-
Rashed MS Rahbeeni Z Ozand PT Application of electrospray tandem mass spectrometry to neonatal screening Sem Perinatol 23 1999 183 193
-
(1999)
Sem Perinatol
, vol.23
, pp. 183-193
-
-
Rashed, MS1
Rahbeeni, Z2
Ozand, PT3
|