Results 31 to 40 of about 1,551 (187)

New drugs: Sapropterin dihydrochloride [PDF]

Australian Prescriber, 2011
Michael McCullough, H Lachmann, P Lowe, S Felix, C Rordorf, K Leslie, S Madhoo, H Lachmann, I Kone-Paut, J Kuemmerle-Deschner, K Leslie, Hachulla E, P Quartier, A Muntau, W Roschinger, M Habich, H Demmelmair, B Hoffmann, C Sommerhoff, Faught E, R Ayala, G Montouris, Leppik Ie, ;   +23 more
openalex   +2 more sources

Sapropterin dihydrochloride treatment in Turkish hyperphenylalaninemic patients under age four

The Turkish Journal of Pediatrics, 2015
Sapropterin enhances phenylalanine hydroxylase activity, thus lowering blood phenylalanine (Phe) concentration while increasing protein tolerance in sapropterin-responsive patients.
Özlem Ünal, Hülya Gökmen-Özel, Turgay Coşkun, R Köksal Özgül, Didem Yücel, Burcu Hişmi, Ayşegül Tokatlı, Ali Dursun, H Serap Sivri   +8 more
doaj   +3 more sources

Improving sapropterin administration efficacy in PKU: Clinical practice case studies. [PDF]

Mol Genet Metab Rep
Tosi M, Daly A, Ashmore C, Pinto A, Vijay S, Verduci E, Evans S, MacDonald A.   +7 more
europepmc   +2 more sources

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study. [PDF]

JIMD Rep
ABSTRACT Achieving and maintaining metabolic control is critical for children with phenylalanine hydroxylase (PAH) deficiency. This retrospective longitudinal cohort study investigated metabolic control and monitoring frequency of children with PAH deficiency (≤ 12 years) treated at one of 12 pediatric metabolic centres across Canada.
Yuskiv N, Saad A, Potter BK, Stockler-Ipsiroglu S, Mitchell JJ, Hawken S, Tingley K, Pugliese M, Lamoureux M, Chow AJ, Kronick JB, Wilson K, Feigenbaum A, Goobie S, Inbar-Feigenberg M, Little J, Mercimek-Andrews S, Pender A, Prasad C, Schulze A, Trakadis Y, Ho G, Vallance H, Austin V, Vandersteen A, Yu AC, Rockman-Greenberg C, Mhanni AA, Chakraborty P.   +28 more
europepmc   +2 more sources

Sapropterin (BH4) aggravates autoimmune encephalomyelitis in mice [PDF]

, 2020
Katja Schmitz, Sandra Trautmann, Lisa Hahnefeld, Caroline Fischer, Robert Gurke, Yannik Schreiber, Robert Brunkhorst, Ernst R. Werner, Katrin Watschinger, Sabine Wicker, Dominique Thomas, Gerd Geißlinger, Irmgard Tegeder   +12 more
openalex   +2 more sources

Relationship Between Gut Microbiota and Phenylalanine Levels: A Mendelian Randomization Study. [PDF]

Microbiologyopen
This study showed that Family XIII AD3011 group was associated with reduced Phe levels, providing important evidence to reveal the interaction between gut microbiota and Phe levels, and providing a scientific basis for the development of personalized diet and nutrition recommendations for PKU patients.
Liu Z, Ye M, Jin H, Chen W, Jieens H, Han R.   +5 more
europepmc   +2 more sources

Personalized Genotype-Based Approach for Treatment of Phenylketonuria. [PDF]

J Inherit Metab Dis
Modeling the residual enzyme activity of PAH genotypes allows for personalized prediction of patient phenotype and BH4‐treatment response. ABSTRACT Extensive studies have examined the clinical manifestations, pathogenic mechanisms, and genetic variations of phenylketonuria (PKU) across different populations, resulting in a substantial collection of ...
Gundorova P, Yousefi B, Woidy M, Rose-Heine MS, Khatri R, Kasten V, Bonn S, Muntau AC, Gersting SW.   +8 more
europepmc   +2 more sources

Long-term safety of sapropterin in paediatric and adult individuals with phenylalanine hydroxylase deficiency: Final results of the Kuvan® Adult Maternal Paediatric European Registry multinational observational study. [PDF]

J Inherit Metab Dis
Abstract Phenylketonuria is a rare inherited disorder that disrupts the metabolism of phenylalanine (Phe) to tyrosine by phenylalanine hydroxylase (PAH). Sapropterin dihydrochloride (Kuvan®) is approved for use in Europe to reduce blood Phe levels and improve Phe tolerance in sapropterin‐responsive individuals. KAMPER (NCT01016392) is an observational,
Feillet F, Arnoux JB, Delgado MB, Burlina A, Chabrol B, Kucuksayrac E, Lagler FB, Muntau AC, Olsson D, Paci S, Rutsch F, van Spronsen FJ, KAMPER investigators.   +12 more
europepmc   +2 more sources

Sapropterin dihydrochloride for phenylketonuria [PDF]

Cochrane Database of Systematic Reviews, 2009
Phenylketonuria results from a deficiency of the enzyme phenylalanine hydroxylase. Dietary restriction of phenylalanine keeps blood phenylalanine concentration low. Most natural foods are excluded from diet and supplements are used to supply other nutrients.
Usha Rani, Somaraju, Marcus, Merrin
openaire   +4 more sources

Recommendations on phenylketonuria in Turkey

The Turkish Journal of Pediatrics, 2022
Background. Phenylketonuria (PKU), is an autosomal recessive disease leading to the conversion defect of phenylalanine (Phe) into tyrosine. Severe neurocognitive and behavioral outcomes are observed in untreated cases.
Turgay Coşkun, Mahmut Çoker, Neslihan Önenli Mungan, Hülya Gökmen Özel, H Serap Sivri   +4 more
doaj   +1 more source