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Results:
1-14
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Results: 14
Authors:
Holzinger, A
Roschinger, W
Lagler, F
Mayerhofer, PU
Lichtner, P
Kattenfeld, T
Thuy, L
Nyhan, WL
Koch, HG
Muntau, AC
Roscher, AA
Citation: A. Holzinger et al., Cloning of the human MCCA and MCCB genes and mutations therein reveal the molecular cause of 3-methylcrotonyl-CoA: carboxylase deficiency, HUM MOL GEN, 10(12), 2001, pp. 1299-1306
Authors:
Dudesek, A
Roschinger, W
Muntau, AC
Seidel, J
Leupold, D
Thony, B
Blau, N
Citation: A. Dudesek et al., Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency, EUR J PED, 160(5), 2001, pp. 267-276
Authors:
Beblo, S
Reinhardt, H
Muntau, AC
Mueller-Felber, W
Roscher, AA
Koletzko, B
Citation: S. Beblo et al., Fish oil supplementation improves visual evoked potentials in children with phenylketonuria, NEUROLOGY, 57(8), 2001, pp. 1488-1491
Authors:
Fingerhut, R
Roschinger, W
Muntau, AC
Dame, T
Kreischer, J
Arnecke, R
Superti-Furga, A
Troxler, H
Liebl, B
Olgemoller, B
Roscher, AA
Citation: R. Fingerhut et al., Hepatic carnitine palmitoyltransferase I deficiency: Acylcarnitine profiles in blood spots are highly specific, CLIN CHEM, 47(10), 2001, pp. 1763-1768
Authors:
Muntau, AC
Mayerhofer, PU
Albet, S
Schmid, TE
Bugaut, M
Roscher, AA
Kammerer, S
Citation: Ac. Muntau et al., Genomic organization, expression analysis, and chromosomal localization ofthe mouse PEX3 gene encoding a peroxisomal assembly protein, BIOL CHEM, 381(4), 2000, pp. 337-342
Authors:
Roschinger, W
Muntau, AC
Rudolph, G
Roscher, AA
Kammerer, S
Citation: W. Roschinger et al., Carrier assessment in families with Lowe oculocerebrorenal syndrome: Novelmutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination, MOL GEN MET, 69(3), 2000, pp. 213-222
Authors:
Muntau, AC
Roschinger, W
Merkenschlager, A
van der Knaap, MS
Jakobs, C
Duran, M
Hoffmann, GF
Roscher, AA
Citation: Ac. Muntau et al., Combined D-2-and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: A third biochemical variant of 2-hydroxyglutaric aciduria?, NEUROPEDIAT, 31(3), 2000, pp. 137-140
Authors:
Roschinger, W
Muntau, AC
Kammer, B
Citation: W. Roschinger et al., Images of the month - Oculocerebrorenal syndrome (Lowe), MONATS KIND, 148(6), 2000, pp. 618-619
Authors:
Muntau, AC
Beblo, S
Koletzko, B
Citation: Ac. Muntau et al., Phenylketonuria and hyperphenylalaninemia, MONATS KIND, 148(2), 2000, pp. 179-193
Authors:
Roschinger, W
Muntau, AC
Duran, M
Dorland, L
IJlst, L
Wanders, RJA
Roscher, AA
Citation: W. Roschinger et al., Carnitine-acylcarnitine translocase deficiency: metabolic consequences of an impaired mitochondrial carnitine cycle, CLIN CHIM A, 298(1-2), 2000, pp. 55-68
Authors:
Gloeckner, CJ
Mayerhofer, PU
Landgraf, P
Muntau, AC
Holzinger, A
Gerber, JK
Kammerer, S
Adamski, J
Roscher, AA
Citation: Cj. Gloeckner et al., Human adrenoleukodystrophy protein and related peroxisomal ABC transporters interact with the peroxisomal assembly protein PEX19p, BIOC BIOP R, 271(1), 2000, pp. 144-150
Authors:
Muntau, AC
Holzinger, A
Mayerhofer, PU
Gartner, J
Roscher, AA
Kammerer, S
Citation: Ac. Muntau et al., The human PEX3 gene encoding a peroxisomal assembly protein: Genomic organization, positional mapping, and mutation analysis in candidate phenotypes, BIOC BIOP R, 268(3), 2000, pp. 704-710
Authors:
Muntau, AC
Mayerhofer, PU
Paton, BC
Kammerer, S
Roscher, AA
Citation: Ac. Muntau et al., Defective peroxisome membrane synthesis due to mutations in human PEX3 causes Zellweger syndrome, complementation group G, AM J HU GEN, 67(4), 2000, pp. 967-975
Authors:
van der Knaap, MS
Jakobs, C
Hoffmann, GF
Duran, M
Muntau, AC
Schweitzer, S
Kelley, RI
Parrot-Roulaud, F
Amiel, J
De Lonlay, P
Rabier, D
Eeg-Olofsson, O
Citation: Ms. Van Der Knaap et al., D-2-hydroxyglutaric aciduria: Further clinical delineation, J INH MET D, 22(4), 1999, pp. 404-413
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