Results 71 to 80 of about 669 (133)

The use of dihydrochloride sapropterin in pediatric patients with phenylketonuria: literature review [PDF]

, 2022
openBackground: La somministrazione precoce di Sapropterina Dicloridrato per via orale nei pazienti pediatrici con diagnosi di PKU in combinazione con la dieta è indicato per diminuire i livelli di Phe nel sangue e mantenere le sue concentrazioni entro ...
BARBIERO, FRANCESCA
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Testing for Tetrahydrobiopterin Responsiveness in Patients with Hyperphenylalaninemia due to Phenylalanine Hydroxylase Deficiency

, 2013
Pharmacological levels of the phenylalanine hydroxylase enzyme cofactor, tetrahydrobiopterin (BH4), reduce plasma phenylalanine levels in some patients with phenylketonuria (PKU), providing the first pharmacological therapy for PKU.
Enrica Riva, V. Leuzzi, Generoso Andria, R. Cerone, Roberto Cerone, G. Andria, LEUZZI, Vincenzo, A. Burlina, Marcello Giovannini, Alberto Burlina, M. Giovannini, E. Riva   +11 more
core   +1 more source

Determination of sapropterin dihydrochloride in solid dosage froms by visible spectroscopy

, 2020
Sapropterin Dihidroklorür, fenilalanin hidroksilaz (PAH) enziminin kofaktörü olan tetrahidrobiyopterin (BH4) 'ün sentetik formudur. Fenilketonüri (PKU) olan kişiler için, oral sapropterin dihidroklorür uygulaması, kandaki fenilalanin seviyesini tirozine dönüştürerek azaltır.
openaire   +1 more source

Sapropterin Dihidroklorid Tedavisi Başlanan Hiperfenilalaninemili Hastaların Izlem Sonuçları

, 2012
Phenylketonuria is one of the most commonly seen inborn errors of metabolism that if left untreated causes mental retardation. Until ten years ago, protein and phenylalanine-restricted diet was the only therapeutic option for this disorder.
Ünal, Özlem
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Funktion und Fehlfunktion der Phenylalaninhydroxylase in Abhängigkeit von Genotyp, metabolischem Status und Therapie mit dem pharmakologischen Chaperon Tetrahydrobiopterin [PDF]

, 2012
Staudigl, Michael
core  

Revisione del manoscritto

, 2009
Sapropterin dihydrochloride (Kuvan), hereafter referred to as sapropterin, is a synthetic formulation of the active 6R-isomer of tetrahydrobiopterin, a naturally occurring cofactor for phenylalanine hydroxylase. In the EU, sapropterin is approved for the
GIOVANNINI, MARCELLO
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Application of stable isotope tracers to examine phenylalanine metabolism and protein requirements in children with phenylketonuria (pku)

, 2015
Phenylketonuria (PKU) is an inherited inborn error of phenylalanine (PHE) metabolism caused by deficiency of hepatic enzyme phenylalanine hydroxylase (PAH). Therefore, PHE accumulates in plasma leading to mental retardation and developmental delay. Kuvan®
Turki, Abrar Mohammed
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Protein and Micronutrient Intake After Two Years of Sapropterin Treatment in PKU. [PDF]

Nutrients
Yilmaz Nas O, Ashmore C, Gama MI, Daly A, Evans S, Pinto A, Ozdogan Y, MacDonald A.   +7 more
europepmc   +1 more source

Impact on diet quality and dietary burden of sapropterin dihydrochloride use in children with phenylketonuria: a 6 months follow-up report

Introduction: Adjuvant treatments in Phenylketonuria (PKU), such as sapropterin dihydrochloride, aim to increase natural protein tolerance and/or ameliorate blood phenylalanine (Phe) levels in a subset of patients.
Gama, Maria Inês Ferreira da Rocha
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Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study. [PDF]

Orphanet J Rare Dis
Antoni G, Kumps C, Berger J, Barman-Aksözen J, Tran C.   +4 more
europepmc   +1 more source