Results 161 to 170 of about 1,551 (187)

Use of sapropterin in the management of phenylketonuria: Seven case reports

Molecular Genetics and Metabolism, 2013
Sapropterin treatment, with or without dietary treatment, improves blood phenylalanine control, increases phenylalanine tolerance, and may reduce the day-to-day dietary treatment burden in a subset of patients with phenylketonuria (PKU). Balancing the need for maintained control of blood phenylalanine with diet relaxation is complex when administering ...
H. Ozel Gokmen, A.M. Lammardo, K. Motzfeldt, M. Robert, J. C. Rocha, M. van Rijn, K. Ahring, A. Bélanger Quintana, A. MacDonald, K. Dokoupil   +9 more
openaire   +2 more sources

Optimizing the use of sapropterin (BH4) in the management of phenylketonuria

Molecular Genetics and Metabolism, 2009
Phenylketonuria (PKU) is caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to deficient conversion of phenylalanine (Phe) to tyrosine and accumulation of toxic levels of Phe. A Phe-restricted diet is essential to reduce blood Phe levels and prevent long-term neurological impairment and other adverse sequelae.
Blau, N, Bélanger-Quintana, A, Demirkol, M, Feillet, F, Giovannini, M, MacDonald, A, Trefz, F K, van Spronsen, F J   +7 more
openaire   +5 more sources

Use of sapropterin dihydrochloride in maternal phenylketonuria. A European experience of eight cases

Journal of Inherited Metabolic Disease, 2014
AbstractSapropterin dihydrochloride (SD) is the first drug treatment for phenylketonuria (PKU), but due to the lack of data, its use in maternal PKU must be undertaken with caution as noted in the FDA and EMEA labels. We collected data from eight pregnancies in PKU women treated with SD and we analysed the phenotypes of these patients, their ...
Feillet, Francois, Muntau, Ania C., DEBRAY, François-Guillaume, Lotz-Havla, Amelie S., Puchwein-Schwepcke, Alexandra, Fofou-Caillierez, Ma Atem Beatrice, van Spronsen, Francjan, Trefz, Fritz Friedrich   +7 more
openaire   +3 more sources

Sapropterin

Nature Reviews Drug Discovery, 2008
Barbara K. Burton, Santwana Kar, Peter Kirkpatrick   +2 more
openaire   +1 more source

Sapropterin/tozinameran

Reactions Weekly, 2023
openaire   +1 more source

Sapropterin

Reactions Weekly, 2005
openaire   +1 more source

Pegvaliase therapy in sapropterin-responsive PKU patients

Molecular Genetics and Metabolism, 2022
ER Vucko, KE Havens, JJ Baker, KJ Arduini, HA Bausell, AC Kozek, A Bueno, AL Paras   +7 more
openaire   +1 more source

Sapropterin. Phenylketonuria: for a minority of patients.

Prescrire international, 2010
Phenylketonuria and tetrahydrobiopterin deficiency are rare congenital disorders involving phenylalanine metabolism. If left untreated, they lead to severe mental retardation and neuropsychological problems. Management is based on a diet low in phenylalanine, started as early as possible.
openaire   +1 more source

Sapropterin Dihydrochloride < Prop INNM >

Drugs of the Future, 1991
J. Prous, J. Castañer
openaire   +1 more source

Sapropterin Adjunctive Therapy in PKU

AAP Grand Rounds, 2007
openaire   +1 more source