Results 21 to 30 of about 1,551 (187)
Enhancement of therapeutic transgene insertion for treatment of murine phenylketonuria [PDF]
Molecular Therapy: Nucleic AcidsLow in vivo transgene integration frequency limits the therapeutic efficacy of homology-directed repair (HDR) as a treatment for genetic disorders. This study demonstrates improved efficacy of HDR-mediated gene insertion for the treatment of murine ...
Michael A. Martinez +6 more
doaj +2 more sources
Molecular Genetics and Metabolism Reports, 2019 Sapropterin dihydrochloride (SD) may be a new treatment option for women with phenylketonuria (PKU) who plan to become pregnant. We report the first Japanese case of maternal PKU treated with SD.
Hiromi Nyuzuki +3 more
doaj +2 more sources
P025: Sapropterin therapy in DHPR deficiency: Overcoming barriers in the treatment [PDF]
Genetics in Medicine Open, 2023 Charles Lourenco +5 more
doaj +2 more sources
New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride
Biologics: Targets & Therapy, 2010 Cary O HardingDepartments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, Oregon, USAAbstract: Oral administration of sapropterin hydrochloride, recently approved for use by the US Food and Drug ...
Cary O Harding
doaj +3 more sources
Use of sapropterin in Mexican patients with yperphenylalaninemia
Acta Pediátrica de México, 2014 Hyperphenylalaninemia is caused by deficient enzyme activity of phenylalanine hydroxylase. It was one of the first genetic disorders susceptible to treatment with a natural protein restricted diet for life.
Susana Monroy-Santoyo +2 more
doaj +2 more sources
Sapropterin for phenylketonuria: A Japanese post‐marketing surveillance study [PDF]
Pediatrics International, 2021 AbstractBackgroundThe aim of this study was to assess the long‐term safety and efficacy of sapropterin in a real‐world setting in Japanese patients with tetrahydrobiopterin (BH4)‐responsive phenylketonuria.MethodsThis post‐marketing surveillance study enrolled all of the patients in Japan with confirmed BH4‐responsive PKU who were administrated ...
Mina Tamura +4 more
openalex +3 more sources
Sapropterin in the Treatment of Phenylketonuria [PDF]
Clinical Medicine Insights: Therapeutics, 2010 Sapropterin has recently been approved to treat hyperphenylalaninaemia in patients over 4 year-old with tetrahydrobiopterin (BH4)-responsive phenylketonuria (PKU) and in children and adults with BH4 deficiency. 1 The effectiveness of this treatment in BH4-responsive PKU patients has already been demonstrated in randomized, double-blind trials; 2 ...
François Feillet +1 more
openalex +2 more sources
Adapted Milwaukee protocol for rabies treatment in a Brazilian indigenous child: case report [PDF]
Virology JournalBackground This case report describes the treatment of a 12-year-old indigenous Brazilian girl from the Maxakali group with rabies using the adapted Milwaukee Protocol.
Dilceu Silveira Tolentino Júnior +2 more
doaj +2 more sources
Navigating social determinants of health barriers in the management of phenylketonuria [PDF]
Molecular Genetics and Metabolism ReportsPhenylketonuria (PKU) is an inborn error of amino acid metabolism that is typically identified by newborn screening. With lifelong treatment consisting of dietary management, frequent laboratory monitoring, and regular metabolic clinic visits, patients ...
Ashley Andrews, Kate McMinimee
doaj +2 more sources
Molecular Genetics and Metabolism Reports, 2017 Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as “responders.” Although prior research has identified biochemical and genotypic ...
Zoë Hawks +5 more
doaj +2 more sources