Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias (English)
- New search for: Guldberg, P.
- New search for: Levy, H. L.
- New search for: Koch, R.
- New search for: Berlin, C. M. Jr
- New search for: Francois, B.
- New search for: Henriksen, K. F.
- New search for: Güttler, F.
- New search for: Guldberg, P.
- New search for: Levy, H. L.
- New search for: Koch, R.
- New search for: Berlin, C. M. Jr
- New search for: Francois, B.
- New search for: Henriksen, K. F.
- New search for: Güttler, F.
In:
Journal of Inherited Metabolic Disease
;
17
, 6
;
645-651
;
1994
- Article (Journal) / Electronic Resource
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Title:Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemias
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Contributors:Guldberg, P. ( author ) / Levy, H. L. ( author ) / Koch, R. ( author ) / Berlin, C. M. Jr ( author ) / Francois, B. ( author ) / Henriksen, K. F. ( author ) / Güttler, F. ( author )
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Published in:Journal of Inherited Metabolic Disease ; 17, 6 ; 645-651
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Publisher:
- New search for: Kluwer Academic Publishers
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Publication date:1994-11-01
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Size:7 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Source:
Table of contents – Volume 17, Issue 6
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 645
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Mutation analysis in families with discordant phenotypes of phenylalanine hydroxylase deficiency. Inheritance and expression of the hyperphenylalaninaemiasGuldberg, P. / Levy, H. L. / Koch, R. / Berlin, C. M. Jr / Francois, B. / Henriksen, K. F. / Güttler, F. et al. | 1994
- 651
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Erratum| 1994
- 652
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Maple syrup urine disease (MSUD): Screening for known mutations in Italian patientsParrella, T. / Surrey, S. / Iolascon, A. / Sartore, M. / Heidenreich, R. / Diamond, G. / Ponzone, A. / Guardamagna, O. / Burlina, A. B. / Cerone, R. et al. | 1994
- 661
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Identification of the insertion/deletion mutation in Spanish β‐propionyl‐CoA carboxylase‐deficient patientsPérez‐Cerdá, C. / Rodríguez‐Pombo, P. / Ugarte, M. et al. | 1994
- 664
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Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysisElpeleg, O. N. / Shaag, A. / Anikster, Y. / Jakobs, C. et al. | 1994
- 667
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Further studies on erythrocyte thiamin transport and phosphorylation in seven patients with thiamin‐responsive megaloblastic anaemiaRindi, G. / Patrini, C. / Laforenza, U. / Mandel, H. / Berant, M. / Viana, M. B. / Poggi, V. / Zarra, A. N. F. et al. | 1994
- 678
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Acylcarnitine profile in tissues and body fluids of biotin‐deficient rats with and withoutl‐carnitine supplementationShigematsu, Y. / Bykov, I. L. / Liu, Y. Y. / Nakai, A. / Kikawa, Y. / Sudo, M. / Fujioka, M. et al. | 1994
- 691
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Decreased hyperammonaemia and orotic aciduria due to inactivation of ornithine aminotransferase in mice with a hereditary abnormal ornithine carbamoyltransferaseSeiler, N. / Grauffel, C. / Daune‐Anglard, G. / Sarhan, S. / Knödgen, B. et al. | 1994
- 704
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Polyunsaturated fatty acid status in patients with phenylketonuriaSanjurjo, P. / Perteagudo, L. / Soriano, J. Rodríguez / Vilaseca, A. / Campistol, J. et al. | 1994
- 710
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PKU‐related dysgammaglobulinaemia: The effect of diet therapy on IgE and allergic sensitizationRiva, E. / Fiocchi, A. / Agostoni, C. / Biasucci, G. / Sala, M. / Banderali, G. / Luotti, D. / Giovannini, M. et al. | 1994
- 718
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Type C Niemann‐Pick disease fibroblasts and their transformed cell lines are hypersensitive to HMG‐CoA reductase inhibitorsYamamoto, T. / Ohashi, T. / Tokoro, T. / Maekawa, K. / Eto, Y. et al. | 1994
- 724
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Mild phenotypic expression of α‐N‐acetylgalactosaminidase deficiency in two adult siblingsChabás, A. / Coll, M. J. / Aparicio, M. / Diaz, E. Rodriguez et al. | 1994
- 732
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Pre‐ and postnatal diagnosis of succinic semialdehyde dehydrogenase deficiency using enzyme and metabolite assaysGibson, K. M. / Baumann, C. / Ogier, H. / Rossier, E. / Vollmer, B. / Jakobs, C. et al. | 1994
- 738
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Identification of the stereoisomeric configurations of methylcitric acid produced bysi‐citrate synthase and methylcitrate synthase using capillary gas chromatography‐mass spectrometryvan Rooyen, J. P. G. / Mienie, L. J. / Erasmus, E. / de Wet, W. J. / Ketting, D. / Duran, M. / Wadman, S. K. et al. | 1994
- 748
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Unreliable verification of prenatal diagnosis of Canavan disease: aspartoacylase activity in deficient and normal fetal skin fibroblastsRolland, M. O. / Mandon, G. / Bernard, A. / Zabot, M. T. / Mathieu, M. et al. | 1994
- 749
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High‐dose vitamin E therapy in glutathione synthetase deficiencyPejaver, R. Kumar / Watson, A. H. et al. | 1994
- 751
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First trimester prenatal exclusion of biotinidase deficiencyChalmers, R. A. / Mistry, J. / Docherty, P. W. / Stratton, D. et al. | 1994
- 753
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Parenteral administration of amino acids in disorders of branched‐chain amino acid metabolismSperl, W. / Skladal, D. / Endres, W. / Speer, G. / Groke, K. et al. | 1994
- 755
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Severe CNS bleeding followed by a good clinical outcome in the acute neonatal form of isovaleric acidaemiaOrban, T. / Mpofu, C. / Blackensee, D. et al. | 1994
- 756
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Mitochondrial dysfunction in a case of fatal infantile cardiomyopathyMarin‐Garcia, J. / Ananthakrishnan, R. / Carta, M. / Dubois, R. / Gu, J. / Goldenthal, M. J. et al. | 1994
- 758
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Dicarboxylic aminoaciduriaKamoun, P. / Parvy, Ph. / Rabier, D. / Bardet, J. / Billette de Villemeur, T. / Saudubray, J. ‐M. et al. | 1994
- 759
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Pyridoxine‐responsive homocystinuria with ruptured sinus of Valsalva in a Chinese boyHou, J. ‐W. / Wang, T. ‐R. et al. | 1994