-
1
-
-
0027316215
-
Multiple syndromes of 3-methylglutaconic aciduria
-
Gibson KM, Elpeleg ON, Jacobs C, et al. Multiple syndromes of 3-methylglutaconic aciduria. Pediatr Neurol. 1993;9:120-123.
-
(1993)
Pediatr Neurol
, vol.9
, pp. 120-123
-
-
Gibson, K.M.1
Elpeleg, O.N.2
Jacobs, C.3
-
2
-
-
0025911004
-
Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria
-
Gibson KM, Sherwood WG, Hoffmann GF, et al. Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. J Pediatr. 1991;118:885-890.
-
(1991)
J Pediatr
, vol.118
, pp. 885-890
-
-
Gibson, K.M.1
Sherwood, W.G.2
Hoffmann, G.F.3
-
3
-
-
0031720878
-
Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency
-
Gibson KM, Wappner RS, Jooste S, et al. Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency. J. Inher. Metab. Dis. 1998;21:631-638.
-
(1998)
J Inher Metab Dis
, vol.21
, pp. 631-638
-
-
Gibson, K.M.1
Wappner, R.S.2
Jooste, S.3
-
4
-
-
0036908780
-
3-methylgutaconic aciduria type I is caused by mutations in AUH
-
Ijlst L, Loupatty FJ, Ruiter JPN, et al. 3-methylgutaconic aciduria type I is caused by mutations in AUH. Am J Hum Genet. 2002;71:1463-1466.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 1463-1466
-
-
Ijlst, L.1
Loupatty, F.J.2
Ruiter, J.P.N.3
-
5
-
-
0037240025
-
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I
-
Ly TB, Peters V, Gibson KM, et al. Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat. 2003;2:401-407.
-
(2003)
Hum Mutat
, vol.2
, pp. 401-407
-
-
Ly, T.B.1
Peters, V.2
Gibson, K.M.3
-
6
-
-
0029963145
-
A novel X-linked gene, G4.5, is responsible for Barth syndrome
-
Bione S, D'Adamo P, Maestrini E, et al. A novel X-linked gene, G4.5, is responsible for Barth syndrome. Nat Genet. 1996;12:385-389.
-
(1996)
Nat Genet
, vol.12
, pp. 385-389
-
-
Bione, S.1
D'Adamo, P.2
Maestrini, E.3
-
7
-
-
0030728921
-
Mutation characterization and genotype-phenotype correlation in Barth syndrome
-
Johnston J, Kelley RI, Feigenbaum A, et al. Mutation characterization and genotype-phenotype correlation in Barth syndrome. Am J Hum Genet. 1997;61:1053-1058.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1053-1058
-
-
Johnston, J.1
Kelley, R.I.2
Feigenbaum, A.3
-
8
-
-
2142765298
-
X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): An update
-
Barth PG, Valianpour F, Bowen VM, et al. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A. 2004;126:349-354.
-
(2004)
Am J Med Genet A
, vol.126
, pp. 349-354
-
-
Barth, P.G.1
Valianpour, F.2
Bowen, V.M.3
-
9
-
-
0035205389
-
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): Identification of the OPA3 gene and its founder mutation in Iraqi Jews
-
Anikster Y, Kleta K, Shaag A, et al. Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. Am J Hum Genet. 2001;69:1218-1224.
-
(2001)
Am J Hum Genet
, vol.69
, pp. 1218-1224
-
-
Anikster, Y.1
Kleta, K.2
Shaag, A.3
-
10
-
-
18944391922
-
3-methylglutaconic aciduria: A common biochemical marker in various syndromes with diverse clinical features
-
Gunay-Aygun M.3-methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. Mol Genet Metab. 2005;84:1-3.
-
(2005)
Mol Genet Metab
, vol.84
, pp. 1-3
-
-
Gunay-Aygun, M.1
-
11
-
-
33644634873
-
Mutation of DNAJC19, a human homolog of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition
-
Aug 3; [E-pub ahead of print]
-
Davey KM, Parboosingh JS, McLeod DR, et al. Mutation of DNAJC19, a human homolog of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet. 2005 Aug 3; [E-pub ahead of print].
-
(2005)
J Med Genet
-
-
Davey, K.M.1
Parboosingh, J.S.2
McLeod, D.R.3
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