Results 61 to 70 of about 6,013 (134)

Görünür bölge spektrokopisi kullanılarak katı dozaj formundaki sapropterin dihidroklorürün tayini.

, 2019
TSapropterin Dihydrochloride is the synthetic form of tetrahydrobiopterin (BH4) which is cofactor of phenylalanine hydroxylase (PAH) enzyme. For people with phenylketonuria (PKU), oral administration of sapropterin dihydrochloride decrease phenylalanine ...
Arabacı, Burak
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An Oxford Nanopore Technologies–Based Sequencing Assay for Molecular Diagnosis of Phenylketonuria and Variant Frequencies in a Turkish Cohort

International Journal of Genomics, Volume 2025, Issue 1, 2025.
Background: Phenylketonuria (PKU) is an autosomal recessive metabolic disorder caused by mutations in the PAH gene, resulting in deficient phenylalanine hydroxylase (PAH) enzyme activity and neurotoxic phenylalanine accumulation. Untreated PKU results in progressive neurodegeneration and severe intellectual disability.
Gülten Tuncel, Mehmet Cihan Balcı, Gökçe Akan, Hasan Hüseyin Kazan, Özge Özgen, Ahmet Çağlar Özketen, Meryem Karaca, Asuman Gedikbaşı, Fatmahan Atalar, Gülden Fatma Gökçay, Irfan Ahmad   +10 more
wiley   +1 more source

Update on the treatment of phenylketonuria: long-term safety and efficacy of sapropterin dihydrochloride

Research and Reports in Endocrine Disorders, 2012
Hilary Vernon1,21McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University, 2Kennedy Krieger Institute, Baltimore, MD, USAAbstract: Phenylketonuria (PKU) is an inborn error of metabolism caused by a defect in the enzyme phenylalanine hydroxylase, which is responsible for converting phenylalanine to tyrosine. Untreated, this disorder will
openaire   +4 more sources

Sapropterin (BH4) aggravates autoimmune encephalomyelitis in mice

, 2021
Depletion of the enzyme cofactor, tetrahydrobiopterin (BH4), in T-cells was shown to prevent their proliferation upon receptor stimulation in models of allergic inflammation in mice, suggesting that BH4 drives autoimmunity.
Geisslinger, Gerd, Wilken-Schmitz, A., Trautmann, Sandra, Hahnefeld, Lisa, Watschinger, K., Fischer, Caroline, Hahnefeld, Lisa Katharina, Gurke, Robert, Wicker, Sabine, Werner, Ernst R., Watschinger, Katrin, Brunkhorst, R., Thomas, Dominique, Wilken-Schmitz, Annett, Schreiber, Y., Thomas, Dominique Jeanette, Schmitz, Katja, Gurke, R., Tegeder, Irmgard, Trautmann, S., Geisslinger, G., Brunkhorst, Robert, Schmitz, K., Fischer, C., Schreiber, Yannick, Werner, E.R., Wicker, S., Tegeder, I., Hahnefeld, L., Thomas, D., Robert Gurke, Gerd Geisslinger, Annett Wilken-Schmitz, Yannick Schreiber, Sabine Wicker, Dominique Thomas, Sandra Trautmann, Irmgard Tegeder, Ernst R. Werner, Katrin Watschinger, Caroline Fischer, Lisa Hahnefeld, Robert Brunkhorst, Katja Schmitz   +43 more
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Relative Oral Bioavailability and Food Effects of Two Sepiapterin Formulations in Healthy Participants

Clinical Pharmacology in Drug Development, Volume 13, Issue 5, Page 506-516, May 2024.
Abstract Sepiapterin is an orally administered drug in development for the treatment of phenylketonuria, an inborn error of metabolism characterized by the deficiency of the phenylalanine‐metabolizing enzyme phenylalanine hydroxylase. This study characterized the pharmacokinetics, safety, and tolerability of 2 clinical sepiapterin formulations (Phase 1/
Lan Gao, Diksha Kaushik, Yi Xia, Kimberly Ingalls, Sarah Milner, Neil Smith, Ronald Kong   +6 more
wiley   +1 more source

Sapropterin dihydrochloride use in pregnant women with phenylketonuria: An interim report of the PKU MOMS sub-registry

Molecular Genetics and Metabolism, 2014
For pregnant women with phenylketonuria (PKU), maintaining blood phenylalanine (Phe)
Grange, Dorothy K., Hillman, Richard E., Burton, Barbara K., Yano, Shoji, Vockley, Jerry, Fong, Chin-To, Hunt, JoEllen, Mahoney, John J., Cohen-Pfeffer, Jessica L.   +8 more
openaire   +2 more sources

Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study

, 2013
OBJECTIVE: Sapropterin dihydrochloride, the synthetic form of 6R-tetrahydrobiopterin (BH4), is an approved drug for the treatment of patients with BH4-responsive phenylketonuria (PKU).
Damaj, Lena, A. M. Bosch, V. Leuzzi, Bélanger Quintana, Amaya, Meli, Concetta A P, Blau, N., E. Riva, Cerone, Roberto, Giovannini, Marcello, Keil, Stefanie, A. Belanger Quintana, Anjema, K., Damaj, L., N. Blau, van Spronsen, F., Anjema, Karen, T. Billette de Villemeur, C. A. P. Meli, Couce, Maria L., Bélanger-Quintana, Amaya, Riva, Enrica, K. Anjema, A. Burlina, Giovannini, M., Feillet, F., Lambruschini, Nilo, Couce, L., Lotz-Havla, A., Lotz-Havla, Amelie S, van Spronsen, Francjan J., Billette de Villemeur, Thierry, Meli, C., Leuzzi, V., Bosch, Annet M., Lotz Havla, Amelie S., A. S. Lotz Havla, Keil, S., Kern, Ilse, M. L. Couce, Lotz-Havla, Amelie S., Lambruschini, N., Muntau, Ania C., Kern, I., T. B. De Villemeur, Belanger-Quintana, A., Burlina, Alberto, Bosch, Annet M, Burlina, A., L. Damaj, S. Keil, Feillet, Francois, Riva, E., N. Lambruschini, Cerone, R., F. Feillet, M. Giovannini, de Villemeur, Thierry Billette, Bosch, M., Muntau, Ania C, van Spronsen, Francjan J, Meli, Concetta A. P., A. C. Muntau, R. Cerone, Blau, Nenad, F. J. Van Spronsen, Leuzzi, Vincenzo, Muntau, C., Meli, Concetta A.P., I. Kern, Couce, Maria L, Couce Pico, María Luz, Billette de Villemeur, T.   +71 more
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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
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Use of sapropterin in the management of phenylketonuria:Seven case reports

, 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).
K. Motzfeldt, Ozel, HÜLYA, Motzfeldt, K., Lammardo, A. M., K. Dokoupil, A. Bélanger Quintana, Dokoupil, K., M. Robert, Robert, M., MacDonald, A., Ahring, K., van Rijn, M., H. Ozel Gokmen, K. Ahring, M. van Rijn, A. MacDonald, Belanger-Quintana, A., Ozel, H. Gokmen, J. C. Rocha, A.M. Lammardo, Rocha, J. C.   +20 more
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Sapropterin hydrochloride: enzyme enhancement therapy for phenylketonuria

, 2011
Phenylketonuria (PKU) is an inherited disorder of amino acid metabolism caused by deficiency of the enzyme phenylalanine hydroxylase (PAH). Historically PKU was a common genetic cause of severe learning difficulties and developmental delay, but with the ...
Robin Lachmann
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