Results 101 to 110 of about 2,156 (206)

Neurotransmitter abnormalities and response to supplementation in SPG11 [PDF]

, 2012
Objective: To report the detection of secondary neurotransmitter abnormalities in a group of SPG11 patients and describe treatment with L-dopa/carbidopa and sapropterin. Design: Case reports.
Zein WM, Parikh S, Jackson KE, Vanderver A, Gowans GC, Auerbach S, Tonduti D, Toro C, Schmidt JL, Nehrebecky M, Brock PL, Gahl W, Patterson M, Godfrey R   +13 more
core   +1 more source

Increased Reactive Oxygen Species Generation Contributes to the Atherogenic Activity of the B2 Bradykinin Receptor

Frontiers in Medicine, 2019
Atherosclerosis and ensuing cardiovascular disease are major causes of death with insufficient treatment options. In search for pathomechanisms of atherosclerosis, we investigated the impact of the B2 bradykinin receptor, Bdkrb2, on atherosclerotic ...
Alexander Perhal, Stefan Wolf, Yahya F. Jamous, Andreas Langer, Joshua Abd Alla, Ursula Quitterer, Ursula Quitterer   +6 more
doaj   +1 more source

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
core   +1 more source

Adjusting diet with sapropterin in phenylketonuria

British Journal of Nutrition, 2011
The usual treatment for phenylketonuria (PKU) is a phenylalanine-restricted diet. Following this diet is challenging, and long-term adherence (and hence metabolic control) is commonly poor. Patients with PKU (usually, but not exclusively, with a relatively mild form of the disorder) who are responsive to treatment with pharmacological doses of ...
MacDonald, Anita, Ahring, Kirsten, Dokoupil, Katharina, Gokmen-Ozel, Hulya, Lammardo, Anna Maria, Motzfeldt, Kristina, Rocha, Julio Cesar, van Rijn, Margreet, Belanger-Quintana, Amaya, Robert, M.   +9 more
openaire   +1 more source

Sapropterin Treatment Prevents Congenital Heart Defects Induced by Pregestational Diabetes in Mice

, 2018
AimsTetrahydrobiopterin (BH4) is a co-factor of endothelial nitric oxide synthase (eNOS), which is critical to embryonic heart development. We aimed to study the effects of sapropterin (Kuvan®), an orally active synthetic form of BH4 on eNOS uncoupling ...
Andrew S. Kucey, Qingping Feng, Xiangru Lu, Kambiz Norozi, Anish Engineer, Tana Saiyin, Brad L. Urquhart, Thomas A. Drysdale   +7 more
core   +1 more source

Adapted Milwaukee protocol for rabies treatment in a Brazilian indigenous child: case report

Virology Journal
Background 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, Maryana Santos Vasconcelos Marques, Roberto Carlos de Oliveira   +2 more
doaj   +1 more source

Additional file 1: Figure S1. of Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial

, 2017
Summary of neuromotor developmental milestones – ITT population. Data show (a) the proportion of patients with normal development in the area of assessment at baseline, (b) Week 12, and (c) Week 26 treated with sapropterin plus the Phe-restricted diet ...
Gwendolyn Gramer (3822619), Renata Pazdírková (3822631), Alain Munafo (3822643), Diane Mould (3822634), Ania Muntau (3431456), Milva Bal (3822622), Flavie Moreau-Stucker (3543146), Daniela Rogoff (3822637), Corinne De Laet (3822613), François Eyskens (301890), Alberto Burlina (3543140), H. Sivri (3822625), Vincenzo Leuzzi (500280), Suresh Vijay (3822640), Amelie Lotz-Havla (3822616), Peter Freisinger (3822628), Frank Rutsch (11533), Maureen Cleary (1460962)   +17 more
core   +1 more source

Follow-up and outcome of PKU patients on sapropterin/BH4 : Preliminary results of a retrospective European Multicenter Study

, 2012
Background: Sapropterin/BH4 is an approved drug for treatment of responsive PKU patients. The purpose of this study was to collect data on the use of Sapropterin/BH4 and its long-term effect on metabolic control and patient-related outcome in five ...
F. Van Spronsen, A. Bosch, S. Keil, N. Lambruschini, A. S. Lotz Havla, K. Anjema, M. L. Couce, C. Meli, A. Burlina, F. Feillet, E. Riva, M. Giovannini, A. C. Muntau, A. Belanger Quintana, R. Cerone, N. Blau, I. Kern   +16 more
core   +1 more source

Computational analysis of the deleterious non-synonymous single nucleotide polymorphisms (nsSNPs) in TYR gene impacting human tyrosinase protein and the protein stability.

PLoS ONE
Tyrosinase, a copper-containing oxidase, plays a vital role in the melanin biosynthesis pathway. Mutations in the tyrosinase gene can disrupt the hydroxylation of tyrosine, leading to decreased production of 3,4-dihydroxyphenylalanine (DOPA ...
Wei Fan, Heng Li Ji, Mohibullah Kakar, Shabbir Ahmed, Hussah M Alobaid, Yasmeen Shakir   +5 more
doaj   +1 more source

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
core   +1 more source