-
1
-
-
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
-
2
-
-
0019953516
-
Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers: II. Morphology and pathogenesis
-
Bohm N, Uy J, Kiessling M, et al (1982) Multiple acyl-CoA dehydrogenation deficiency (glutaric aciduria type II), congenital polycystic kidneys, and symmetric warty dysplasia of the cerebral cortex in two newborn brothers: II. Morphology and pathogenesis. Eur J Pediatr 139: 60-65.
-
(1982)
Eur J Pediatr
, vol.139
, pp. 60-65
-
-
Bohm, N.1
Uy, J.2
Kiessling, M.3
-
3
-
-
17644435180
-
Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life
-
Boles RG, Buck EA, Blitzer MG, et al (1998) Retrospective biochemical screening of fatty acid oxidation disorders in postmortem livers of 418 cases of sudden death in the first year of life. J Pediatr 132: 924-933.
-
(1998)
J Pediatr
, vol.132
, pp. 924-933
-
-
Boles, R.G.1
Buck, E.A.2
Blitzer, M.G.3
-
4
-
-
0025694816
-
The fasting test in paediatrics: Application to the diagnosis of pathological hypo- And hyperketotic states
-
Bonnefont JP, Specola NB, Vassault A, et al (1990) The fasting test in paediatrics: application to the diagnosis of pathological hypo- and 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
-
5
-
-
0019499706
-
Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency
-
Bougnères PF, Saudubray JM, Marsac C, Bernard O, Odièvre M, Girard J (1981) Fasting hypoglycemia resulting from hepatic carnitine palmitoyl transferase deficiency. J Pediatr 98: 742-746.
-
(1981)
J Pediatr
, vol.98
, pp. 742-746
-
-
Bougnères, P.F.1
Saudubray, J.M.2
Marsac, C.3
Bernard, O.4
Odièvre, M.5
Girard, J.6
-
6
-
-
0028931461
-
Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes
-
Brivet M, Slama A, Saudubray JM, Legrand A, Lemonnier A (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
Legrand, A.4
Lemonnier, A.5
-
7
-
-
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 DS, 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.S.3
-
8
-
-
0032969196
-
Defects in activation and transport of fatty acids
-
Brivet M, Boutron A, Slama A, et al (1999) Defects in activation and transport of fatty acids. J Inher Metab Dis 22: 428-441.
-
(1999)
J Inher Metab Dis
, vol.22
, pp. 428-441
-
-
Brivet, M.1
Boutron, A.2
Slama, A.3
-
9
-
-
0028078632
-
A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts
-
Burlina AB, Dionisi-Vici C, Bennett MJ, et al (1994) A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts. J Pediatr 124: 79-86.
-
(1994)
J Pediatr
, vol.124
, pp. 79-86
-
-
Burlina, A.B.1
Dionisi-Vici, C.2
Bennett, M.J.3
-
11
-
-
0023700730
-
Glutaric acidemia Type II
-
Colevas AD, Edwards JL, Hruban RH, Mitchell GA, Valle D, Hutchins GM (1988) Glutaric acidemia Type II. 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
Mitchell, G.A.4
Valle, D.5
Hutchins, G.M.6
-
12
-
-
0024551414
-
Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation
-
Corr PB, Creer MH, Yamada KA, Saffitz JE, Sobel BE (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
Saffitz, J.E.4
Sobel, B.E.5
-
13
-
-
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, Cepanec C, Leroux JP, Saudubray JM (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
Cepanec, C.4
Leroux, J.P.5
Saudubray, J.M.6
-
14
-
-
0015800677
-
Muscle carnitine palmitoyl transferase deficiency and myoglobinuria
-
Dimauro S, Dimauro PMM (1973) Muscle carnitine palmitoyl transferase deficiency and myoglobinuria. Science 182: 929-931.
-
(1973)
Science
, vol.182
, pp. 929-931
-
-
Dimauro, S.1
Dimauro, P.M.M.2
-
15
-
-
0025828169
-
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Clinical and therapeutic considerations
-
Dionisi-Vici C, Burlina AB, Bertini E, et al (1991) Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: clinical and therapeutic considerations. J Pediatr 118: 744-746.
-
(1991)
J Pediatr
, vol.118
, pp. 744-746
-
-
Dionisi-Vici, C.1
Burlina, A.B.2
Bertini, E.3
-
16
-
-
0029847961
-
Hypoparathyroidism in mitochondrial trifunctional protein deficiency
-
Dionisi-Vici C, Garavaglia B, Burlina AB, et al (1996) Hypoparathyroidism in mitochondrial trifunctional protein deficiency. J Pediatr 129: 159-162.
-
(1996)
J Pediatr
, vol.129
, pp. 159-162
-
-
Dionisi-Vici, C.1
Garavaglia, B.2
Burlina, A.B.3
-
17
-
-
0015912030
-
Carnitine deficiency of human skeletal muscle associated with lipid storage myopathy : A new syndrome
-
Engel AG, Angelini C (1973) Carnitine deficiency of human skeletal muscle associated with lipid storage myopathy : a new syndrome. Science 179: 899-901.
-
(1973)
Science
, vol.179
, pp. 899-901
-
-
Engel, A.G.1
Angelini, C.2
-
18
-
-
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
-
19
-
-
0013640063
-
Diagnostic procedures: Function tests and postmortem protocol
-
Fernandes J, Saudubray JM, Van den Berghe G, eds. Berlin: Springer-Verlag
-
Fernandes J, Saudubray JM (1995) Diagnostic procedures: function tests and postmortem protocol. In Fernandes J, Saudubray JM, Van den Berghe G, eds. Inborn Metabolic Diseases: Diagnosis and Treatment, 2nd edn. Berlin: Springer-Verlag, 41-46.
-
(1995)
Inborn Metabolic Diseases: Diagnosis and Treatment, 2nd Edn.
, pp. 41-46
-
-
Fernandes, J.1
Saudubray, J.M.2
-
20
-
-
0021335643
-
The honeybee syndrome: Implications of teratogenicity of mannose in rat-embryo culture
-
Freinkel N, Lewis NJ, Azakawa S, Roth SI, German I (1984) The honeybee syndrome: implications of teratogenicity of mannose in rat-embryo culture. N Engl J Med 310: 223-230.
-
(1984)
N Engl J Med
, vol.310
, pp. 223-230
-
-
Freinkel, N.1
Lewis, N.J.2
Azakawa, S.3
Roth, S.I.4
German, I.5
-
21
-
-
0343471867
-
Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria
-
Garcia-Silva MT, Ribes A, Campos Y, Garavaglia B, Arenas J (1997) Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. Pediatr Neurol 17: 165-170.
-
(1997)
Pediatr Neurol
, vol.17
, pp. 165-170
-
-
Garcia-Silva, M.T.1
Ribes, A.2
Campos, Y.3
Garavaglia, B.4
Arenas, J.5
-
22
-
-
0021829147
-
Riboflavin-responsive ethylmalonyl-adipic aciduria
-
Green A, Marshall TG, Bennett MJ, Gray RGF, Pollit RJ (1985) Riboflavin-responsive ethylmalonyl-adipic aciduria. J Inher Metab Dis 8: 67-70.
-
(1985)
J Inher Metab Dis
, vol.8
, pp. 67-70
-
-
Green, A.1
Marshall, T.G.2
Bennett, M.J.3
Gray, R.G.F.4
Pollit, R.J.5
-
23
-
-
0345515648
-
Complete deficiency of CPT I in an infant born to a mother with acute fatty liver of pregnancy
-
Poster, Vienna, May 21-25, 1997. (Abstract)
-
Greenberg CR, Wanders RJA, Roe CR, Grewar D, Seargeant LE (1997) Complete deficiency of CPT I in an infant born to a mother with acute fatty liver of pregnancy. Poster, 7th International Congress of Inborn Errors of Metabolism, Vienna, May 21-25, 1997. (Abstract).
-
(1997)
7th International Congress of Inborn Errors of Metabolism
-
-
Greenberg, C.R.1
Wanders, R.J.A.2
Roe, C.R.3
Grewar, D.4
Seargeant, L.E.5
-
24
-
-
0026718314
-
Fatty acid oxidation disorders: A new class of metabolic diseases
-
Hale D, Bennett MJ (1992) Fatty acid oxidation disorders: a new class of metabolic diseases. J Pediatr 121: 1-11.
-
(1992)
J Pediatr
, vol.121
, pp. 1-11
-
-
Hale, D.1
Bennett, M.J.2
-
25
-
-
0025115137
-
The L-3-hydroxyacyl-CoA dehydrogenase deficiency
-
Tanaka K, Coates PM, eds. New-York: Alan R. Liss
-
Hale DE, Thorpe C, Braat K, et al (1990a) The L-3-hydroxyacyl-CoA dehydrogenase deficiency. In Tanaka K, Coates PM, eds. Fatty Acid Oxidation: Clinical, Biochemical and Molecular aspects. New-York: Alan R. Liss, 503-510.
-
(1990)
Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects
, pp. 503-510
-
-
Hale, D.E.1
Thorpe, C.2
Braat, K.3
-
26
-
-
0025115137
-
The L-3-hydroxyacyl-CoA dehydrogenase deficiency
-
Hale DE, Thorpe C, Braat K, et al (1990b) The L-3-hydroxyacyl-CoA dehydrogenase deficiency. Prog Clin Biol 321: 503-510.
-
(1990)
Prog Clin Biol
, vol.321
, pp. 503-510
-
-
Hale, D.E.1
Thorpe, C.2
Braat, K.3
-
27
-
-
25944434368
-
Effects of docosahexaenoic acid (DHA) supplementation upon retinal function in children with long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
-
abstract
-
Harding CO, Gillingham MB, Van Calcar SC, Wolff JA, Verhoeve JN, Mills MD (1998) Effects of docosahexaenoic acid (DHA) supplementation upon retinal function in children with long chain 3-hydroxyacyl-CoA dehydrogenase deficiency. J Inher Metab Dis 21(supplement 2): O6 (abstract).
-
(1998)
J Inher Metab Dis
, vol.21
, Issue.2 SUPPL.
-
-
Harding, C.O.1
Gillingham, M.B.2
Van Calcar, S.C.3
Wolff, J.A.4
Verhoeve, J.N.5
Mills, M.D.6
-
28
-
-
0023233996
-
Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic acidemia, or systemic carnitine deficiency
-
Harpey JP, Charpentier C, Coude M, Divry P, Paturneau-Jouas M (1987) Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic acidemia, or systemic carnitine deficiency. J Pediatr 110: 881-884.
-
(1987)
J Pediatr
, vol.110
, pp. 881-884
-
-
Harpey, J.P.1
Charpentier, C.2
Coude, M.3
Divry, P.4
Paturneau-Jouas, M.5
-
29
-
-
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
-
30
-
-
0009690189
-
An expanding spectrum of metabolic disorders can cause acute fatty liver of pregnancy (AFLP), hemolysis, elevated liver enzymes and low platelets syndrome (HELLP), and hyperemesis gravidarum
-
abstract
-
Innes AM, Seargeant LE, Balachandra K, et al (1997) An expanding spectrum of metabolic disorders can cause acute fatty liver of pregnancy (AFLP), hemolysis, elevated liver enzymes and low platelets syndrome (HELLP), and hyperemesis gravidarum. Am J Hum Genet A252 (abstract).
-
(1997)
Am J Hum Genet
, vol.A252
-
-
Innes, A.M.1
Seargeant, L.E.2
Balachandra, K.3
-
31
-
-
0025129387
-
Tandem mass spectrometry: A new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism
-
Millington DS, Kodo N, Norwood DL, Roe CR (1990) Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inher Metab Dis 13: 321-324.
-
(1990)
J Inher Metab Dis
, vol.13
, pp. 321-324
-
-
Millington, D.S.1
Kodo, N.2
Norwood, D.L.3
Roe, C.R.4
-
32
-
-
0026621735
-
The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders
-
Coates PM, Tanaka K, eds. New York: Wiley-Liss
-
Millington DS, Terada N, Chace DH, et al (1992) The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders. In Coates PM, Tanaka K, eds. New Developments in Fatty Acid Oxidation. Progress in Clinical and Biological Research. New York: Wiley-Liss, 339-354.
-
(1992)
New Developments in Fatty Acid Oxidation. Progress in Clinical and Biological Research
, pp. 339-354
-
-
Millington, D.S.1
Terada, N.2
Chace, D.H.3
-
33
-
-
0030850541
-
Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence
-
Miyajima H, Orii KE, Shindo Y, et al (1997) Mitochondrial trifunctional protein deficiency associated with recurrent myoglobinuria in adolescence. Neurology 49: 833-837.
-
(1997)
Neurology
, vol.49
, pp. 833-837
-
-
Miyajima, H.1
Orii, K.E.2
Shindo, Y.3
-
34
-
-
0028950214
-
Evidence for intermediate channeling of mitochondrial β-oxidation
-
Nada M, Rhead W, Sprecher H, et al (1995) Evidence for intermediate channeling of 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
-
35
-
-
0025856468
-
Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: Use of stress and fat-loading tests
-
Parmi R, Garavaglia B, Saudubray JM, et al (1991) Clinical diagnosis of long-chain acyl-coenzyme A-dehydrogenase deficiency: use of stress and fat-loading tests. J Pediatr 119: 77-80.
-
(1991)
J Pediatr
, vol.119
, pp. 77-80
-
-
Parmi, R.1
Garavaglia, B.2
Saudubray, J.M.3
-
36
-
-
0024312617
-
Disorders of mitochondrial beta-oxidation; prenatal and early post-natal diagnosis and their relevance to Reye's syndrome and sudden infant death
-
Pollitt RJ (1989) Disorders of mitochondrial beta-oxidation; prenatal and early post-natal diagnosis and their relevance to Reye's syndrome and sudden infant death. J Inher Metab Dis 12(supplement 1): 215-230.
-
(1989)
J Inher Metab Dis
, vol.12
, Issue.1 SUPPL.
, pp. 215-230
-
-
Pollitt, R.J.1
-
37
-
-
0023778211
-
14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation?
-
14 hydroxydicarboxylic aciduria. A new defect in fatty acid oxidation? J Inher Metab Dis 11(supplement 2): 183-185.
-
(1988)
J Inher Metab Dis
, vol.11
, Issue.2 SUPPL.
, pp. 183-185
-
-
Poll-The, B.T.1
Bonnefont, J.P.2
Ogier, H.3
-
38
-
-
0029090038
-
Diagnosis of inborn errors of metabolism in sudden death cases by acylcarnitine analysis of postmortem bile
-
Rashed MS, Ozand PT, Bennett MJ, Barnard JJ, Govindaraju DR, Rinaldo P (1995) Diagnosis of inborn errors of metabolism in sudden death cases by acylcarnitine analysis of postmortem bile. Clin Chem 41: 1109-1114.
-
(1995)
Clin Chem
, vol.41
, pp. 1109-1114
-
-
Rashed, M.S.1
Ozand, P.T.2
Bennett, M.J.3
Barnard, J.J.4
Govindaraju, D.R.5
Rinaldo, P.6
-
39
-
-
0025177610
-
Screening for inborn errors of fatty acid oxidation in cultured fibroblasts: An overview
-
Tanaka K, Coates PM, eds. New York: Alan R. Liss
-
Rhead WJ (1990) Screening for inborn errors of fatty acid oxidation in cultured fibroblasts: an overview. In Tanaka K, Coates PM, eds. Fatty Acid Oxidation: Clinical, Biochemical and Molecular aspects. New York: Alan R. Liss, 365-382.
-
(1990)
Fatty Acid Oxidation: Clinical, Biochemical and Molecular Aspects
, pp. 365-382
-
-
Rhead, W.J.1
-
41
-
-
0026620040
-
Multiple acyl-coenzyme A dehydrogenation disorders (MAD) responsive to riboflavin: Biochemical studies in fibroblasts
-
Coates PM, Tanaka K, eds. New York: Wiley-Liss
-
Roettger V, Marshall T, Amendt B, Rhead WJ (1992) Multiple acyl-coenzyme A dehydrogenation disorders (MAD) responsive to riboflavin: biochemical studies in fibroblasts. In Coates PM, Tanaka K, eds. New Developments in Fatty Acid Oxidation. Progress in Clinical and Biological Research. New York: Wiley-Liss, 317-326.
-
(1992)
New Developments in Fatty Acid Oxidation. Progress in Clinical and Biological Research
, pp. 317-326
-
-
Roettger, V.1
Marshall, T.2
Amendt, B.3
Rhead, W.J.4
-
42
-
-
0025242644
-
Deficiency of long-chain 3-hydroxyacylCoA dehydrogenase: A cause of lethal myopathy and cardiomyopathy in early childhood
-
Rocchiccioli P, Wanders RJA, Aubourg P, et al (1990) Deficiency of long-chain 3-hydroxyacylCoA dehydrogenase: a cause of lethal myopathy and cardiomyopathy in early childhood. Pediatr Res 28: 657-662.
-
(1990)
Pediatr Res
, vol.28
, pp. 657-662
-
-
Rocchiccioli, P.1
Wanders, R.J.A.2
Aubourg, P.3
-
43
-
-
0022919033
-
A simple screening test for medium chain acylCoA dehydrogenase deficiency
-
Rumsby G, Seakins JWT, Leonard JV (1986) A simple screening test for medium chain acylCoA dehydrogenase deficiency. Lancet 2: 467.
-
(1986)
Lancet
, vol.2
, pp. 467
-
-
Rumsby, G.1
Seakins, J.W.T.2
Leonard, J.V.3
-
44
-
-
0000547499
-
Clinical phenotypes: Diagnosis/algorithms
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds., New York: McGraw-Hill
-
Saudubray JM, Charpentier C (1995) Clinical phenotypes: diagnosis/algorithms. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn, New York: McGraw-Hill, 327-400.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edn
, pp. 327-400
-
-
Saudubray, J.M.1
Charpentier, C.2
-
45
-
-
0019992258
-
Oxidation of fatty acids in cultured fibroblasts : A model system for the detection and study of defects in oxidation
-
Saudubray JM, Coudé FX, Demaugre F, Johnson C, Gibson KM, Nyhan WC (1982) Oxidation of fatty acids in cultured fibroblasts : a model system for the detection and study of defects in oxidation. Pediatr Res 16: 877-881.
-
(1982)
Pediatr Res
, vol.16
, pp. 877-881
-
-
Saudubray, J.M.1
Coudé, F.X.2
Demaugre, F.3
Johnson, C.4
Gibson, K.M.5
Nyhan, W.C.6
-
46
-
-
0024371031
-
Clinical approach to inherited metabolic diseases in the neonatal period: A 20-year survey
-
Saudubray JM, Ogier H, Bonnefont JP, et al (1989) Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey. J Inher Metab Dis 12(supplement 1): 25-41.
-
(1989)
J Inher Metab Dis
, vol.12
, Issue.1 SUPPL.
, pp. 25-41
-
-
Saudubray, J.M.1
Ogier, H.2
Bonnefont, J.P.3
-
47
-
-
0026677725
-
Detection and quantitation of acyl-carnitines in plasma and blood spots from patients with inborn errors of fatty acid oxida-tion
-
Coates PM, Tanaka K, eds. New York: Wiley-Liss
-
Schmidt-Sommerfeld E, Penn D, Duran M, et al (1992) Detection and quantitation of acyl-carnitines in plasma and blood spots from patients with inborn errors of fatty acid oxida-tion. In Coates PM, Tanaka K, eds. New Developments in Fatty Acid Oxidation. Progress in Clinical and Biological Research. New York: Wiley-Liss, 355-362.
-
(1992)
New Developments in Fatty Acid Oxidation. Progress in Clinical and Biological Research
, pp. 355-362
-
-
Schmidt-Sommerfeld, E.1
Penn, D.2
Duran, M.3
-
48
-
-
0031798837
-
Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset
-
Smelt AHM, Poorthuis JHM, Onkenhout W, et al (1998) Very long chain acyl-coenzyme A dehydrogenase deficiency with adult onset. Ann Neurol 43: 540-544.
-
(1998)
Ann Neurol
, vol.43
, pp. 540-544
-
-
Smelt, A.H.M.1
Poorthuis, J.H.M.2
Onkenhout, W.3
-
49
-
-
0030759186
-
Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency
-
Sperl W, Geiger R, Lehnert W, Rhead W (1997) Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Eur J Pediatr 156: 800-802.
-
(1997)
Eur J Pediatr
, vol.156
, pp. 800-802
-
-
Sperl, W.1
Geiger, R.2
Lehnert, W.3
Rhead, W.4
-
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-1 deficiency
-
Stanley CA, Sunaryo F, Hale DE, Bonnefont JP, Demaugre F, Saudubray JM (1992) Elevated plasma carnitine in the hepatic form of carnitine palmitoyltransferase-1 deficiency. J Inher Metab Dis 15: 785-789.
-
(1992)
J Inher Metab Dis
, vol.15
, pp. 785-789
-
-
Stanley, C.A.1
Sunaryo, F.2
Hale, D.E.3
Bonnefont, J.P.4
Demaugre, F.5
Saudubray, J.M.6
-
52
-
-
0024473260
-
Normal muscle CPT I and CPT II activities in hepatic-presentation patients with CPT I deficiency in fibroblasts. Tissue specific isoforms of CPT I?
-
Tein I, Demaugre F, Bonnefont JP, Saudubray JM (1989) Normal muscle CPT I and CPT II activities in hepatic-presentation patients with CPT I deficiency in fibroblasts. Tissue specific isoforms of CPT I? 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
Saudubray, J.M.4
-
53
-
-
0026076169
-
Short-chain L-3-hydroxyacyl-Coa dehydrogenase deficiency in muscle: A new cause for recurrent myoglobinuria and encephalopathy
-
Tein I, DeVivo DC, Hale DE, et al (1991) Short-chain L-3-hydroxyacyl-CoA dehydrogenase deficiency in muscle: a new cause for recurrent myoglobinuria and encephalopathy. Ann Neurol 30: 415-419.
-
(1991)
Ann Neurol
, vol.30
, pp. 415-419
-
-
Tein, I.1
DeVivo, D.C.2
Hale, D.E.3
-
54
-
-
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, Pihko H (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
Pihko, H.4
-
55
-
-
0027359236
-
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Diagnosis by acylcarnitine analysis in blood
-
Van Hove JLK, Zhang W, Kahler SG, et al (1993) Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. Am J Hum Genet 52: 958-966.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 958-966
-
-
Van Hove, J.1
Zhang, W.2
Kahler, S.G.3
-
56
-
-
0023184852
-
The inborn errors of mitochondrial fatty acid oxidation
-
Vianey-Saban C, Divry P, Gregersen N, Mathieu M (1987) The inborn errors of mitochondrial fatty acid oxidation. J Inher Metab Dis 10(supplement 1): 159-198.
-
(1987)
J Inher Metab Dis
, vol.10
, Issue.1 SUPPL.
, pp. 159-198
-
-
Vianey-Saban, C.1
Divry, P.2
Gregersen, N.3
Mathieu, M.4
-
57
-
-
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, et al (1998) Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. Clin Chim Acta 269: 43-62.
-
(1998)
Clin Chim Acta
, vol.269
, pp. 43-62
-
-
Vianey-Saban, C.1
Divry, P.2
Brivet, M.3
-
58
-
-
0024344543
-
Glutaric aciduria type II: Review of the phenotype and report of an unusual glomerulopathy
-
Wilson GN, De Chadarévian JP, Kaplan P, Loehr JP, Frerman FE, Goodman SI (1989) Glutaric aciduria type II: review of the phenotype and report of an unusual glomerulopathy. Am J Med Genet 32: 395-401.
-
(1989)
Am J Med Genet
, vol.32
, pp. 395-401
-
-
Wilson, G.N.1
De Chadarévian, J.P.2
Kaplan, P.3
Loehr, J.P.4
Frerman, F.E.5
Goodman, S.I.6
-
59
-
-
0001123688
-
Carnitine palmitoyl transferase-type 2 deficiency: Two new cases and successful prenatal diagnosis
-
abstract
-
Witt DR, Theobald M, Santa-maria M, et al (1991) Carnitine palmitoyl transferase-type 2 deficiency: two new cases and successful prenatal diagnosis. Am J Hum Genet 49(supplement 4): 535 (abstract).
-
(1991)
Am J Hum Genet
, vol.49
, Issue.4 SUPPL.
, pp. 535
-
-
Witt, D.R.1
Theobald, M.2
Santa-maria, M.3
|