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Results: 1-21 |
Results: 21
Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation
Authors: Muhl, ML Moslinger, D Item, CB Stockler-Ipsiroglu, S
Citation: Ml. Muhl et al., Molecular characterisation of 34 patients with biotinidase deficiency ascertained by newborn screening and family investigation, EUR J HUM G, 9(4), 2001, pp. 237-243
Multiorgan donation from a donor with unrecognized ornithine transcarbamylase deficiency
Authors: Plochl, W Plochl, E Pokorny, H Kozek-Langenecker, S Zacherl, J Stockler-Ipsiroglu, S Wermuth, B Spiss, CK Muhlbacher, F
Citation: W. Plochl et al., Multiorgan donation from a donor with unrecognized ornithine transcarbamylase deficiency, TRANSPLAN I, 14(3), 2001, pp. 196-201
Mutations in the complex INDUFS2 gene of patients with cardiomyopathy and encephalomyopathy
Authors: Loeffen, J Elpeleg, O Smeitink, J Smeets, R Stockler-Ipsiroglu, S Mandel, H Sengers, R Trijbels, F van den Heuvel, L
Citation: J. Loeffen et al., Mutations in the complex INDUFS2 gene of patients with cardiomyopathy and encephalomyopathy, ANN NEUROL, 49(2), 2001, pp. 195-201
Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria
Authors: Moslinger, D Stockler-Ipsiroglu, S Scheibenreiter, S Tiefenthaler, M Muhl, A Seidl, R Strobl, W Plecko, B Suormala, T Baumgartner, ER
Citation: D. Moslinger et al., Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria, EUR J PED, 160(5), 2001, pp. 277-282
On being a child and having children with the changing times
Authors: Ipsiroglu, O Stockler-Ipsiroglu, S Plecko, B Arbeiter, K Dunitz-Scheer, M Heitger, A Huber, WD Jurgenssen, OA Kaltenbrunner, K Koller, D Maurer, W Muller, T Paky, F Pollak, A Salzer, H Skladal, D Stromberger, C Trop, M Forster-Waldl, E Weikmann, E
Citation: O. Ipsiroglu et al., On being a child and having children with the changing times, MONATS KIND, 149(6), 2001, pp. 594-594
Macrocephaly as a feature of inborn errors of metabolism
Authors: Plecko, B Stockler-Ipsiroglu, S
Citation: B. Plecko et S. Stockler-ipsiroglu, Macrocephaly as a feature of inborn errors of metabolism, MONATS KIND, 149(2), 2001, pp. 137-146
Changes of tissue creatine concentrations upon oral supplementation of creatine-monohydrate in various animal species
Authors: Ipsiroglu, OS Stromberger, C Ilas, J Hoger, H Muhl, A Stockler-Ipsiroglu, S
Citation: Os. Ipsiroglu et al., Changes of tissue creatine concentrations upon oral supplementation of creatine-monohydrate in various animal species, LIFE SCI, 69(15), 2001, pp. 1805-1815
Analysis of guanidinoacetate and creatine by isotope dilution electrospraytandem mass spectrometry
Authors: Bodamer, OA Bloesch, SM Gregg, AR Stockler-Ipsiroglu, S O'Brien, WE
Citation: Oa. Bodamer et al., Analysis of guanidinoacetate and creatine by isotope dilution electrospraytandem mass spectrometry, CLIN CHIM A, 308(1-2), 2001, pp. 173-178
Arginine : glycine amidinotransferase deficiency: The third inborn error of creatine metabolism in humans
Authors: Item, CB Stockler-Ipsiroglu, S Stromberger, C Muhl, A Alessandri, MG Bianchi, MC Tosetti, M Fornai, F Cioni, G
Citation: Cb. Item et al., Arginine : glycine amidinotransferase deficiency: The third inborn error of creatine metabolism in humans, AM J HU GEN, 69(5), 2001, pp. 1127-1133
Dietary treatment in maternal phenylketonuria
Authors: Moslinger, D Scheibenreiter, S Spoula, E Stockler-Ipsiroglu, S
Citation: D. Moslinger et al., Dietary treatment in maternal phenylketonuria, Z GEBU NEON, 204(5), 2000, pp. 181-186
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patientswith pyridoxine-dependent epilepsy
Authors: Plecko, B Stockler-Ipsiroglu, S Paschke, E Erwa, W Struys, EA Jakobs, C
Citation: B. Plecko et al., Pipecolic acid elevation in plasma and cerebrospinal fluid of two patientswith pyridoxine-dependent epilepsy, ANN NEUROL, 48(1), 2000, pp. 121-125
Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect
Authors: van der Knaap, MS Verhoeven, NM Maaswinkel-Mooij, P Pouwels, PJW Onkenhout, W Peeters, EAJ Stockler-Ipsiroglu, S Jakobs, C
Citation: Ms. Van Der Knaap et al., Mental retardation and behavioral problems as presenting signs of a creatine synthesis defect, ANN NEUROL, 47(4), 2000, pp. 540-543
Mutation analysis in glycogen storage disease type 1 non-a
Authors: Janecke, AR Lindner, M Erdel, M Mayatepek, E Moslinger, D Podskarbi, T Fresser, F Stockler-Ipsiroglu, S Hoffmann, GF Utermann, G
Citation: Ar. Janecke et al., Mutation analysis in glycogen storage disease type 1 non-a, HUM GENET, 107(3), 2000, pp. 285-289
Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22 : 1)-rich triglycerides
Authors: Barmaki Pour, R Stockler-Ipsiroglu, S Hunneman, DH Gahr, M Korenke, GC Pabst, W Hanefeld, F Peters, A
Citation: R. Barmaki Pour et al., Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22 : 1)-rich triglycerides, J INH MET D, 23(2), 2000, pp. 113-119
Serum homocyst(e)ine levels in women with preeclampsia
Authors: Mayerhofer, K Hefler, L Zeisler, H Tempfer, C Bodner, K Stockler-Ipsiroglu, S Muhl, A Kaider, A Schatten, C Leodolter, S Husslein, P Kainz, C
Citation: K. Mayerhofer et al., Serum homocyst(e)ine levels in women with preeclampsia, WIEN KLIN W, 112(6), 2000, pp. 271-275
Tyrosinemia type I - clinical and biochemical symptoms of three infants
Authors: Crone, J Huber, WD Moslinger, D Felberbauer, F Utermann, K Gratzl, R Stockler-Ipsiroglu, S
Citation: J. Crone et al., Tyrosinemia type I - clinical and biochemical symptoms of three infants, MONATS KIND, 148(11), 2000, pp. 1001-1005
Energy metabolism in graded perinatal asphyxia of the rat
Authors: Seidl, R Stockler-Ipsiroglu, S Rolinski, B Kohlhauser, C Herkner, KR Lubec, B Lubec, G
Citation: R. Seidl et al., Energy metabolism in graded perinatal asphyxia of the rat, LIFE SCI, 67(4), 2000, pp. 421-435
Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism
Authors: Ilas, J Muhl, A Stockler-Ipsiroglu, S
Citation: J. Ilas et al., Guanidinoacetate methyltransferase (GAMT) deficiency: non-invasive enzymatic diagnosis of a newly recognized inborn error of metabolism, CLIN CHIM A, 290(2), 2000, pp. 179-188
Mutant NDUFV1subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
Authors: Schuelke, M Smeitink, J Mariman, E Loeffen, J Plecko, B Trijbels, F Stockler-Ipsiroglu, S van den Heuvel, L
Citation: M. Schuelke et al., Mutant NDUFV1subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy, NAT GENET, 21(3), 1999, pp. 260-261
Cerebral blood flow velocities in an infant with moyamoya disease
Authors: Ipsiroglu, OS Eichler, F Stockler-Ipsiroglu, S Trattnig, S
Citation: Os. Ipsiroglu et al., Cerebral blood flow velocities in an infant with moyamoya disease, PED NEUROL, 21(4), 1999, pp. 739-741
An adult phenylketonuria patient before and one year after reinstitution of dietary therapy
Authors: Tiefenthaler, M Seidl, R Scheibenreiter, S Wandl-Vergesslich, K Stockler-Ipsiroglu, S
Citation: M. Tiefenthaler et al., An adult phenylketonuria patient before and one year after reinstitution of dietary therapy, WIEN KLIN W, 111(1), 1999, pp. 33-36
Risultati: 1-21 |