Carbohydrate status in patients with phenylketonuria-Reference-Cited by-同舟云学术

Carbohydrate status in patients with phenylketonuria

Published:2018-06-27 Issue:1 Volume:13 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Couce María L.^ORCID,Sánchez-Pintos Paula,Vitoria Isidro,De Castro María-José,Aldámiz-Echevarría Luís,Correcher Patricia,Fernández-Marmiesse Ana,Roca Iria,Hermida Alvaro,Martínez-Olmos Miguel,Leis Rosaura

Funder

Fundación IDIS-C012

Publisher

Springer Science and Business Media LLC

Subject

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

Link

http://link.springer.com/content/pdf/10.1186/s13023-018-0847-x.pdf

Reference54 articles.

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2. Bóveda MD, Couce ML, Castiñeiras DE, Cocho JA, Pérez B, Ugarte M, Fraga JM. The tetrahydrobiopterin loading test in 36 patients with hyperphenylalaninaemia: evaluation of response and subsequent treatment. J Inherit Metab Dis. 2007;30:8–12.

3. Burlina A, Blau N. Effect of BH(4) supplementation on phenylalanine tolerance. J Inherit Metab Dis. 2009;32:40–5.

4. Trefz FK, Burton BK, Longo N, Casanova MM, Gruskin DJ, Dorenbaum A, Kakkis ED, Crombez EA, Grange DK, Harmatz P, Lipson MH, Milanowski A, Randolph LM, Vockley J, Whitley CB, Wolff JA, Bebchuk J, Christ-Schmidt H, Hennermann JB. Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. J Pediatr. 2009;154:700–7.

5. Giovannini M, Verduci E, Salvatici E, Paci S, Riva E. Phenylketonuria: nutritional advances and challenges. Nutr Metab. 2012;9(1):7.

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