Results 11 to 20 of about 2,204 (208)

Metabolic Control in Patients With Phenylketonuria Pre- and Post-Sapropterin Loading Test [PDF]

Journal of Inborn Errors of Metabolism and Screening, 2018
In Portugal, tetrahydrobiopterin (BH4)-responsive patients with phenylketonuria (PKU) are identified using a loading test (LT). Phenylalanine/natural protein (Phe/NP) intake is increased to elevate blood Phe prior to the LT.
Catarina Sousa Barbosa BSc, Manuela F. Almeida BSc, Cátia Sousa BSc, Sara Rocha MD, Arlindo Guimas MD, Rosa Ribeiro MD, Esmeralda Martins MD, PhD, Anabela Bandeira MD, Bruno M. P. M. Oliveira PhD, Nuno Borges PhD, Anita MacDonald PhD, Júlio C. Rocha PhD   +11 more
doaj   +6 more sources

P025: Sapropterin therapy in DHPR deficiency: Overcoming barriers in the treatment

Genetics in Medicine Open, 2023
Charles Lourenco, Regina Albuquerque, Lilian Sansao, Renan Campi, Debora Tomaz, Jacqueline Fonseca   +5 more
doaj   +3 more sources

A Single-Center Retrospective Cohort Study of Biopterin Metabolism Disorders in the United Arab Emirates. [PDF]

JIMD Rep
ABSTRACT Background Tetrahydrobiopterin (BH4) deficiencies comprise a group of five neurometabolic disorders caused by five genetic defects responsible for BH4 biosynthesis and regeneration. Their global prevalence remains unknown, and variance exists among different countries.
Jarrah O, Nouri M, Al Shamsi A.
europepmc   +2 more sources

Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria [PDF]

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, Joshua Shimony, Jerrel Rutlin, Dorothy K. Grange, Shawn E. Christ, Desirée A. White   +5 more
doaj   +5 more sources

First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child

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, Taro Yamazaki, Megumi Saito, Akira Ohtake   +3 more
doaj   +2 more sources

Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l-amino acid-based product. [PDF]

J Inherit Metab Dis
Abstract Background Phenylketonuria (PKU) is caused by phenylalanine hydroxylase deficiency. Treatment is primarily a low‐Phe diet combined with l‐amino acid‐based products (l‐AA). Protein requirements in adults with PKU have not been directly determined.
Turki A, Stockler-Ipsiroglu S, Sirrs S, Branov J, Bosdet T, Elango R.   +5 more
europepmc   +2 more sources

Blood Phenylalanine Levels in Patients with Phenylketonuria from Europe between 2012 and 2018: Is It a Changing Landscape? [PDF]

Nutrients
Publisher Copyright: © 2024 by the authors.Background: In 2011, a European phenylketonuria (PKU) survey reported that the blood phenylalanine (Phe) levels were well controlled in early life but deteriorated with age.
Pinto A, Ahring K, Almeida MF, Ashmore C, Bélanger-Quintana A, Burlina A, Coşkun T, Daly A, van Dam E, Dursun A, Evans S, Feillet F, Giżewska M, Gökmen-Özel H, Hickson M, Hoekstra Y, Ilgaz F, Jackson R, Leśniak A, Loro C, Malicka K, Patalan M, Rocha JC, Sivri S, Rodenburg I, van Spronsen F, Strączek K, Tokatli A, MacDonald A.   +28 more
europepmc   +5 more sources

Integrated genomic network analysis revealed potential of a druggable target for hemorrhoid treatment [PDF]

Saudi Pharmaceutical Journal, 2023
Hemorrhoids are a prevalent medical condition that necessitates effective treatment options. The current options for treatment consist of oral medications, topical applications, or surgery, yet a scarcity of highly effective drugs still exists.
Wirawan Adikusuma, Firdayani Firdayani, Lalu Muhammad Irham, Darmawi Darmawi, Muhammad Yulis Hamidy, Baiq Leny Nopitasari, Soraya Soraya, Nurul Azizah   +7 more
doaj   +2 more sources

Longitudinal Dietary Intake Data in Patients with Phenylketonuria from Europe: The Impact of Age and Phenylketonuria Severity. [PDF]

Nutrients
Funding Information: A.P. received an educational grant from Cambrooke Therapeutics and Biomarin and grants from Vitaflo International, Nutricia, Merck Serono, Biomarin, Mevalia, Galen, PIAM, and Applied Pharma Research to attend scientific meetings ...
Pinto A, Ahring K, Almeida MF, Ashmore C, Bélanger-Quintana A, Burlina A, Coşkun T, Daly A, van Dam E, Dursun A, Evans S, Feillet F, Giżewska M, Gökmen-Özel H, Hickson M, Hoekstra Y, Ilgaz F, Jackson R, Leśniak A, Loro C, Malicka K, Patalan M, Rocha JC, Sivri S, Rodenburg I, van Spronsen F, Strączek K, Tokatli A, MacDonald A.   +28 more
europepmc   +6 more sources

Sapropterin [PDF]

British Journal of Clinical Pharmacology, 2010
Eline A. Dubois, Adam F. Cohen
openalex   +5 more sources