Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience-Reference-Cited by-同舟云学术

Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience

Published:2015-02-08 Issue:1 Volume:10 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Scala Iris,Concolino Daniela,Casa Roberto Della,Nastasi Anna,Ungaro Carla,Paladino Serena,Capaldo Brunella,Ruoppolo Margherita,Daniele Aurora,Bonapace Giuseppe,Strisciuglio Pietro,Parenti Giancarlo,Andria Generoso

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics (clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-015-0227-8.pdf

Reference41 articles.

1. Camp KM, Parisi MA, Acosta PB, Berry GT, Bilder DA, Blau N, et al. Phenylketonuria Scientific Review Conference: state of the science and future research needs. Mol Genet Metab. 2014;112:87–122.

2. Scriver CR, Kaufman S. Hyperphenylalaninemia: Phenylalanine hydroxylase deficiency. In: Scriver CR, Kaufman S, Eisensmith RC, Woo SLC, editors. The Metabolic and Molecular Bases of Inherited Disease. 8th ed. New York: McGraw-Hill; 2003. p. 1667–724.

3. Peng SS, Tseng WY, Chien YH, Hwu WL, Liu HM. Diffusion tensor images in children with early-treated, chronic, malignant phenylketonuric: correlation with intelligence assessment. AJNR Am J Neuroradiol. 2004;25:1569–74.

4. Kono K, Okano Y, Nakayama K, Hase Y, Minamikawa S, Ozawa N, et al. Diffusion-weighted MR imaging in patients with phenylketonuria: relationship between serum phenylalanine levels and ADC values in cerebral white matter. Radiology. 2005;236:630–6.

5. Kure S, Hou DC, Ohura T, Iwamoto H, Suzuki S, Sugiyama N, et al. Tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. J Pediatr. 1999;135:375–8.

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