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Results: 1-10 |
Results: 10
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: Diagnosis and genetics of DOPA-responsive dystonia and sepiapterin reductase deficiency
Authors: Blau, N Bonafe, L Thony, B
Citation: N. Blau et al., Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: Diagnosis and genetics of DOPA-responsive dystonia and sepiapterin reductase deficiency, MOL GEN MET, 74(1-2), 2001, pp. 172-185
A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping
Authors: Skrygan, M Bartholome, B Bonafe, L Blau, N Bartholome, K
Citation: M. Skrygan et al., A splice mutation in the GTP cyclohydrolase I gene causes dopa-responsive dystonia by exon skipping, J INH MET D, 24(3), 2001, pp. 345-351
Treatable neurotransmitter deficiency in mild phenylketonuria
Authors: Bonafe, L Blau, N Burlina, AP Romstad, A Guttler, F Burlina, AB
Citation: L. Bonafe et al., Treatable neurotransmitter deficiency in mild phenylketonuria, NEUROLOGY, 57(5), 2001, pp. 908-911
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts
Authors: Bonafe, L Thony, B Leimbacher, W Kierat, L Blau, N
Citation: L. Bonafe et al., Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts, CLIN CHEM, 47(3), 2001, pp. 477-485
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
Authors: Bonafe, L Thony, B Penzien, JM Czarnecki, B Blau, N
Citation: L. Bonafe et al., Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia, AM J HU GEN, 69(2), 2001, pp. 269-277
Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias
Authors: Bonafe, L Troxler, H Kuster, T Heizmann, CW Chamoles, NA Burlina, AB Blau, N
Citation: L. Bonafe et al., Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias, MOL GEN MET, 69(4), 2000, pp. 302-311
Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment
Authors: Burlina, AB Bonafe, L Ferrari, V Suppiej, A Zacchello, F Burlina, AP
Citation: Ab. Burlina et al., Measurement of neurotransmitter metabolites in the cerebrospinal fluid of phenylketonuric patients under dietary treatment, J INH MET D, 23(4), 2000, pp. 313-316
Clinical and biochemical approach to the neonate with a suspected inborn error of amino acid and organic acid metabolism
Authors: Burlina, AB Bonafe, L Zacchello, F
Citation: Ab. Burlina et al., Clinical and biochemical approach to the neonate with a suspected inborn error of amino acid and organic acid metabolism, SEM PERINAT, 23(2), 1999, pp. 162-173
Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism
Authors: Burlina, AB Gibson, KM Ruitenbeek, W Bonafe, L Bennett, MJ
Citation: Ab. Burlina et al., Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism, J INH MET D, 21(8), 1998, pp. 864-866
Lysosomal enzymes in preterm infants with bronchopulmonary dysplasia: a potential diagnostic marker
Authors: Goi, G Bairati, C Massaccesi, L Lombardo, A Bonafe, L Zanardo, V Burlina, A
Citation: G. Goi et al., Lysosomal enzymes in preterm infants with bronchopulmonary dysplasia: a potential diagnostic marker, CLIN CHIM A, 278(1), 1998, pp. 23-34
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