The first European guidelines on phenylketonuria: Usefulness and implications for BH

Autor: Roeland A F, Evers, Annemiek M J, van Wegberg, Karen, Anjema, Charlotte M A, Lubout, Esther, van Dam, Danique, van Vliet, Nenad, Blau, Francjan J, van Spronsen

Publikováno v: Journal of inherited metabolic diseaseREFERENCES. 43(2)

This study aimed to investigate and improve the usefulness of the 48-hour BHApplying the definition of the European guidelines (≥100% increase in natural protein tolerance) and an amended definition (≥100% increase in natural protein tolerance or

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::01d87918a292686fb4f561d718af64c6
https://pubmed.ncbi.nlm.nih.gov/31503351

The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?

Autor: Carolien C. A. Boelen, Annet M. Bosch, Francjan J. van Spronsen, Margreet van Rijn, Floris C. Hofstede, Karen Anjema, M. Estela Rubio-Gozalbo, Maaike de Vries

Publikováno v: Orphanet Journal of Rare Diseases, 11, 1, pp. 10
Orphanet journal of rare diseases, 11:10. BMC
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 11:10. BioMed Central Ltd
Orphanet Journal of Rare Diseases, 11, 10
Orphanet journal of rare diseases, 11(1). BioMed Central
Orphanet Journal of Rare Diseases, 11. BioMed Central
Orphanet Journal of Rare Diseases, 11

Contains fulltext : 171759.pdf (Publisher’s version ) (Open Access) BACKGROUND: It is unknown whether the neonatal tetrahydrobiopterin (BH4) loading test is adequate to diagnose long-term BH4 responsiveness in PKU. Therefore we compared the predict

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a93d36297ea2c5830a17991a8d11f5f8
https://doi.org/10.1186/s13023-016-0394-2

The 48-hour tetrahydrobiopterin loading test in patients with phenylketonuria: Evaluation of protocol and influence of baseline phenylalanine concentration

Autor: M. van Rijn, M. E. Rubio-Gozalbo, R.G. Janssen-Regelink, H.E.E. Zweers-van Essen, M.R. Heiner-Fokkema, N.A. van der Herberg-van de Wetering, C. C. Boelen, M.C. de Vries, C. E. M. Hollak, G. Venema, Annet M. Bosch, E.M.C. van der Ploeg, F. J. van Spronsen, N.M. Ter Horst, C. Jonkers, F.C. Hofstede, E. C. Carbasius Weber, Mirian C. H. Janssen, Karen Anjema

Publikováno v: Molecular genetics and metabolism, 104(Suppl), S60-S63. Academic Press Inc.
Molecular Genetics and Metabolism, 104 Suppl, pp. S60-3
Molecular Genetics and Metabolism, 104, S60-S63. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular Genetics and Metabolism, 104 Suppl, S60-3
Molecular Genetics and Metabolism, 104, S60-S63. Academic Press Inc.

Item does not contain fulltext BACKGROUND: The 24- and 48-hour tetrahydrobiopterin (BH4) loading test (BLT) performed at a minimum baseline phenylalanine concentration of 400 mumol/l is commonly used to test phenylketonuria patients for BH4 responsiv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff825ac137c9868dd923afda1cb7bdb7
https://doi.org/10.1016/j.ymgme.2011.09.024

Long-term Follow-up and Outcome of Phenylketonuria Patients on Sapropterin: A Retrospective Study

Autor: Karen Anjema, Stefanie Keil, Vincenzo Leuzzi, Alberto Burlina, Annet M. Bosch, N. Lambruschini, Lena Damaj, Thierry Billette de Villemeur, Nenad Blau, María L. Couce, François Feillet, Concetta Meli, Marcello Giovannini, Amaya Belanger-Quintana, Ania C. Muntau, Enrica Riva, Roberto Cerone, Francjan J. van Spronsen, Amelie S. Lotz-Havla, Ilse Kern

Publikováno v: Pediatrics
Pediatrics, American Academy of Pediatrics, 2013, 131 (6), pp.e1881-e1888. ⟨10.1542/peds.2012-3291⟩
Pediatrics, 131(6), E1881-E1888. AMER ACAD PEDIATRICS
Pediatrics, 131(6), e1881-e1888. American Academy of Pediatrics
Pediatrics, Vol. 131, No 6 (2013) pp. e1881-8
Pediatrics, 2013, 131 (6), pp.e1881-e1888. ⟨10.1542/peds.2012-3291⟩

OBJECTIVE: Sapropterin dihydrochloride, the synthetic form of 6R-tetrahydrobiopterin (BH4), is an approved drug for the treatment of patients with BH4-responsive phenylketonuria (PKU). The purpose of this study was to assess genotypes and data on the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4939254f6498f70ddb36b94beb60a0cd
https://hal.univ-lorraine.fr/hal-01704390