Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase‐deficient hyperphenylalaninaemia (English)
- New search for: Gramer, G.
- New search for: Burgard, P.
- New search for: Garbade, S. F.
- New search for: Lindner, M.
- New search for: Gramer, G.
- New search for: Burgard, P.
- New search for: Garbade, S. F.
- New search for: Lindner, M.
In:
Journal of Inherited Metabolic Disease
;
30
, 4
;
556-562
;
2007
- Article (Journal) / Electronic Resource
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Title:Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase‐deficient hyperphenylalaninaemia
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Contributors:
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Published in:Journal of Inherited Metabolic Disease ; 30, 4 ; 556-562
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Publisher:
- New search for: Springer Netherlands
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Publication date:2007-08-01
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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 30, Issue 4
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.
- 417
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Focus on neonatal screeningHoffmann, G. / Pollitt, R. / Torresani, T. / Yamaguchi, S. et al. | 2007
- 418
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Neonatal screening: from the ‘Guthrie age’ to the ‘genetic age’Dhondt, Jean-Louis et al. | 2007
- 423
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Introducing new screens: Why are we all doing different things?Pollitt, R. J. et al. | 2007
- 430
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Neonatal screening in Europe; the situation in 2004Loeber, J. Gerard et al. | 2007
- 439
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Expanded newborn screening in Europe 2007Bodamer, O. A. / Hoffmann, G. F. / Lindner, M. et al. | 2007
- 445
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Scene from the USA: The illogic of mandating screening without also providing for treatmentBuist, Neil R. M. / Huntington, Kathleen et al. | 2007
- 447
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Newborn screening in North AmericaTherrell, Bradford L. / Adams, John et al. | 2007
- 466
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Newborn screening in Latin America at the beginning of the 21st centuryBorrajo, G. J. C. et al. | 2007
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Newborn screening: Experiences in the Middle East and North AfricaSaadallah, A. A. / Rashed, M. S. et al. | 2007
- 490
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Newborn screening in the Asia Pacific regionPadilla, Carmencita D. / Therrell, Bradford L. et al. | 2007
- 507
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Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: A four-year reportHan, L. S. / Ye, J. / Qiu, W. J. / Gao, X. L. / Wang, Y. / Gu, X. F. et al. | 2007
- 515
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Quebec neonatal mass urinary screening programme: From micromolecules to macromoleculesAuray-Blais, C. / Cyr, D. / Drouin, R. et al. | 2007
- 522
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Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: Developing and optimizing strategies in cooperation with the Neonatal Screening Center in HeidelbergLindner, M. / Abdoh, G. / Fang-Hoffmann, J. / Shabeck, N. / Al Sayrafi, M. / Al Janahi, M. / Ho, S. / Abdelrahman, M. O. / Ben-Omran, T. / Bener, A. et al. | 2007
- 530
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Storage policies and use of the Danish Newborn Screening BiobankNørgaard-Pedersen, B. / Hougaard, D. M. et al. | 2007
- 537
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Newborn screening for cystic fibrosis: Techniques and strategiesWilcken, Bridget et al. | 2007
- 544
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Cystic fibrosis: Benefits and clinical outcomeMcKay, K. O. et al. | 2007
- 556
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Effects and clinical significance of tetrahydrobiopterin supplementation in phenylalanine hydroxylase-deficient hyperphenylalaninaemiaGramer, G. / Burgard, P. / Garbade, S. F. / Lindner, M. et al. | 2007
- 563
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Congenital adrenal hyperplasia: Diagnostic advancesTorresani, T. / Biason-Lauber, Anna et al. | 2007
- 576
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Quality performance of newborn screening systems: Strategies for improvementWebster, D. et al. | 2007
- 585
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Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: The Mayo Clinic experience (2004–2007)Matern, D. / Tortorelli, S. / Oglesbee, D. / Gavrilov, D. / Rinaldo, P. et al. | 2007
- 593
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An international training and support programme for the establishment of neonatal screening in developing countriesFukushi, M. et al. | 2007
- 596
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Training programmes for developing countriesSolanki, K. K. et al. | 2007
- 600
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Structures for clinical follow-up: Newborn screeningHowell, R. Rodney / Engelson, Gilian et al. | 2007
- 606
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A retrospective ESI-MS/MS analysis of newborn blood spots from 18 symptomatic patients with organic acid and fatty acid oxidation disorders diagnosed either in infancy or in childhoodKobayashi, H. / Hasegawa, Y. / Endo, M. / Purevsuren, J. / Yamaguchi, S. et al. | 2007
- 607
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Population quantile-quantile plots for monitoring assay performance in newborn screeningPollitt, R. J. / Matthews, A. J. et al. | 2007
- 608
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Long-term follow-up study of patients with phenylketonuria detected by the newborn screening programme in JapanAoki, K. / Ohwada, M. / Kitagawa, T. et al. | 2007
- 609
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First ISNS Reference Preparation for Neonatal Screening for thyrotropin, phenylalanine and 17α-hydroxyprogesterone in blood spotsElvers, L. H. / Loeber, J. G. / Dhondt, J.-L. / Fukushi, M. / Hannon, W. H. / Torresani, T. / Webster, D. et al. | 2007
- 610
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Tandem mass spectrometric determination of succinylacetone in dried blood spots enables presymptomatic detection in a case of hepatorenal tyrosinaemiaWeigel, J. F. W. / Janzen, N. / Pfäffle, R. W. / Thiery, J. / Kiess, W. / Ceglarek, U. et al. | 2007
- 611
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LC-MS/MS determination of dibasic amino acids for the diagnosis of cystinuria. Application in a family affected by a novel splice-acceptor site mutation in the SLC7A9 geneAl-Dirbashi, O. Y. / Abu-Amero, K. K. / Alswaid, A. F. / Hoffmann, G. F. / Al-Qahtani, K. / Rashed, M. S. et al. | 2007
- 612
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Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan diseaseAl-Dirbashi, O. Y. / Rashed, M. S. / Al-Qahtani, K / Al-Mokhadab, M. A. / Kurdi, W. / Al-Sayed, M. A. A. et al. | 2007
- 613
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Neonatal screening of cystic fibrosis: diagnostic problems with CFTR mild mutationsRoussey, M. / Le Bihannic, A. / Scotet, V. / Audrezet, M. P. / Blayau, M. / Dagorne, M. / David, V. / Deneuville, E. / Giniès, J. L. / Laurans, M. et al. | 2007
- 614
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Direct comparison of enzyme measurements from dried blood and leukocytes from male and female Fabry disease patientsLukacs, Z. / Hartung, R. / Beck, M. / Keil, A. / Mengel, E. et al. | 2007
- 615
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Newborn screening: A national public health programme in BrazilMarini de Carvalho, T. / Pimentel dos Santos, H. / dos Santos, I. C. G. P. / Vargas, P. R. / Pedrosa, J. et al. | 2007