E
Eric Crombez
Researcher at Shire plc
Publications - 28
Citations - 1000
Eric Crombez is an academic researcher from Shire plc. The author has contributed to research in topics: Velaglucerase alfa & Imiglucerase. The author has an hindex of 13, co-authored 26 publications receiving 893 citations. Previous affiliations of Eric Crombez include University of California, Los Angeles.
Papers
More filters
Journal ArticleDOI
Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study.
Friedrich K. Trefz,Barbara K. Burton,Nicola Longo,Mercedes Martinez Pardo Casanova,Daniel Gruskin,Alex Dorenbaum,Emil D. Kakkis,Eric Crombez,Dorothy K. Grange,Paul Harmatz,Mark H. Lipson,Andrzej Milanowski,Linda M. Randolph,Jerry Vockley,Chester B. Whitley,Jon A. Wolff,Judith Bebchuk,Heidi Christ-Schmidt,Julia B. Hennermann +18 more
TL;DR: Sapropterin is effective in increasing Phe tolerance while maintaining blood Phe control and has an acceptable safety profile in this population of children with PKU.
Journal ArticleDOI
The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study.
Barbara K. Burton,Barbara K. Burton,Dorothy K. Grange,Andrzej Milanowski,G. Vockley,François Feillet,Eric Crombez,V. Abadie,Cary O. Harding,Stephen D. Cederbaum,D. Dobbelaere,A. Smith,Alejandro Dorenbaum +12 more
TL;DR: Variability in reduction of Phe indicates that the response to sapropterin dihydrochloride cannot be predicted by baseline Phe level, which is well tolerated and reduced blood Phe levels across all PKU phenotypes tested.
Journal ArticleDOI
Hyperargininemia due to liver arginase deficiency.
TL;DR: The clinical course of selected patients who represent the full spectrum of presentations of arginase deficiency are summarized, which shows a strikingly uniform clinical picture and one notably different from patients with other urea cycle disorders.
Journal ArticleDOI
Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria
Phillip Lee,Eileen P. Treacy,Eric Crombez,Melissa P. Wasserstein,Lewis Waber,Jon A. Wolff,Udo Wendel,Alex Dorenbaum,Judith Bebchuk,Heidi Christ-Schmidt,Margretta R. Seashore,Marcello Giovannini,Barbara K. Burton,A. A. M. Morris +13 more
TL;DR: Sapropterin is effective in reducing plasma Phe concentrations in a dose‐dependent manner and is well tolerated at doses of 5–20 mg/kg/day over 22 weeks in BH4‐responsive patients with PKU.
Journal ArticleDOI
Expanded newborn screening identifies maternal primary carnitine deficiency.
Lisa A. Schimmenti,Eric Crombez,Bernd Schwahn,Bryce A. Heese,Tim Wood,Richard J. Schroer,Kristi Bentler,Stephen D. Cederbaum,Kyriakie Sarafoglou,Mark McCann,Piero Rinaldo,Dietrich Matern,Cristina Amat di San Filippo,Marzia Pasquali,Susan A. Berry,Nicola Longo +15 more
TL;DR: Identification of adult patients with primary carnitine deficiency is an added benefit of expanded newborn screening programs because of the lifetime risk of morbidity or sudden death.