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1. Full Text The mechanism of BH 4-responsive hyperphenylalaninemia-As it occurs in the ENU1/2 genetic mouse model
by Sarkissian, Christineh N and Ying, Ming and Scherer, Tanja and Thöny, Beat and Martinez, Aurora
Human mutation, ISSN 1059-7794, 10/2012, Volume 33, Issue 10, pp. 1464 - 1473
Phenylketonuria | Ubiquitination | Tetrahydrobiopterin | Misfolding
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2. Full Text Anthropomorphic measurements and nutritional biomarkers after 5 years of BH4 treatment in phenylketonuria patients
by Evers, Roeland A. F and van Wegberg, Annemiek M. J and van Dam, Esther and de Vries, Maaike C and Janssen, Mirian C. H and van Spronsen, Francjan J
Molecular genetics and metabolism, ISSN 1096-7192, 08/2018, Volume 124, Issue 4, pp. 238 - 242
Phenylketonuria | THERAPY | Diet | Nutrition | Tetrahydrobiopterin | Anthropomorphic measurements | TETRAHYDROBIOPTERIN BH4 | CHILDREN | AGE
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3. Full Text 6R-tetrahydrobiopterin treated PKU patients below 4years of age: Physical outcomes, nutrition and genotype
by Aldámiz-Echevarría, Luis and Bueno, María A and Couce, María L and Lage, Sergio and Dalmau, Jaime and Vitoria, Isidro and Llarena, Marta and Andrade, Fernando and Blasco, Javier and Alcalde, Carlos and Gil, David and García, María C and González-Lamuño, Domingo and Ruiz, Mónica and Ruiz, María A and Peña-Quintana, Luis and González, David and Sánchez-Valverde, Felix
Molecular genetics and metabolism, ISSN 1096-7192, 05/2015, Volume 115, Issue 1, pp. 10 - 16
Phenylketonuria | Tetrahydrobiopterin | Growth | Physical outcomes
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4. Full Text The neonatal tetrahydrobiopterin loading test in phenylketonuria: what is the predictive value?
by Anjema, Karen and Hofstede, Floris C and Bosch, Annet M and Rubio-Gozalbo, Estela and de Vries, Maaike C and Boelen, Carolien C. A and van Rijn, Margreet and van Spronsen, Francjan J
Orphanet journal of rare diseases, ISSN 1750-1172, 01/2016, Volume 11
Phenylketonuria | Neonate | Tetrahydrobiopterin | PKU | BH4
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5. Full Text Brain Kynurenine and BH4 Pathways: Relevance to the Pathophysiology and Treatment of Inflammation-Driven Depressive Symptoms
by Vancassel, Sylvie and Capuron, Lucile and Castanon, Nathalie
Frontiers in neuroscience, ISSN 1662-4548, 07/2018, Volume 12, pp. 499 - 499
Neurosciences | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Care and treatment | Dosage and administration | Antidepressants | Depression, Mental | Health care | Dopamine | Cytokines | Mental disorders | Serotonin | Laboratories | Neurobiology | Adjuvants | Inflammation | Mental depression | Metabolism | Drug development | Monoamines | Patients | Tetrahydrobiopterin | Anxieties | Immunotherapy | Tumor necrosis factor-TNF | Metabolic pathways | Behavior | Chronic illnesses | Life Sciences | Animal genetics | Genetics | kynurenines | inflammation | neuroinflammation | depressive symptoms | tetrahydrobiopterin (BH4) | monoamines
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6. Full Text Phenylalanine and tyrosine metabolism in DNAJC12 deficiency: A comparison between inherited hyperphenylalaninemias and healthy subjects
by Porta, Francesco and Ponzone, Alberto and Spada, Marco
European journal of paediatric neurology, ISSN 1090-3798, 09/2020, Volume 28, pp. 77 - 80
DNAJC12 | Phenylketonuria | Neurotransmitter disorders | Tetrahydrobiopterin deficiency | Tetrahydrobiopterin | Pediatrics | Clinical Neurology | Neurosciences & Neurology | Life Sciences & Biomedicine | Science & Technology | Index Medicus
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7. Full Text Regulation of iNOS function and cellular redox state by macrophage Gch1 reveals specific requirements for tetrahydrobiopterin in NRF2 activation
by McNeill, Eileen and Crabtree, Mark J and Sahgal, Natasha and Patel, Jyoti and Chuaiphichai, Surawee and Iqbal, Asif J and Hale, Ashley B and Greaves, David R and Channon, Keith M
Free radical biology & medicine, ISSN 0891-5849, 02/2015, Volume 79, pp. 206 - 216
As3MT | GCH1 | NOS2 | Tetrahydrobiopterin | Nitric oxide | GTPCH | iNOS | BH4 | Macrophage | Biochemistry & Molecular Biology | Endocrinology & Metabolism | Life Sciences & Biomedicine | Science & Technology | Macrophages - metabolism | Animals | Biopterin - deficiency | Oxidation-Reduction | NF-E2-Related Factor 2 - metabolism | Mice | Nitric Oxide - metabolism | Biopterin - analogs & derivatives | GTP Cyclohydrolase - genetics | Biopterin - metabolism | Macrophages - enzymology | Nitric Oxide Synthase Type II - metabolism | Enzymes | Analysis | Physiological aspects | Superoxide | Genetic engineering | Macrophages | Gene expression | Index Medicus | As3MT, arsenic(III)-methyltransferase | GTPCH, GTP cyclohydrolase 1 | 2-HE, 2-hydroxyethidium | Original Contribution | [Fe(DETC)2], colloid iron (II) diethyldithiocarbamate | BH4, tetrahydrobiopterin | iNOS, inducible nitric oxide synthase | ROS, reactive oxygen species
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8. Nitric oxide: a major determinant of mast cell phenotype and function
by McCauley, S. D and Gilchrist, M and Befus, A. D
Nitric oxide: a major determinant of mast cell phenotype and function, 12/2005
nitric oxide - mast cell - tetrahydrobiopterin - leukotriene - degranulation
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9. Full Text The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study
by Huijbregts, Stephan C. J and Bosch, Annet M and Simons, Quirine A and Jahja, Rianne and Brouwers, Martijn C. G. J and De Sonneville, Leo M. J and De Vries, Maaike C and Hofstede, Floris C and Hollak, Carla E. M and Janssen, Mirian C. H and Langendonk, Janneke G and Rubio-Gozalbo, M. Estela and Van der Meere, Jaap J and Van der Ploeg, Ans T and Van Spronsen, Francjan J
Molecular genetics and metabolism, ISSN 1096-7192, 09/2018, Volume 125, Issue 1-2, p. 96
Health-related quality of life | Phenylketonuria | Phenylalanine | Tetrahydrobiopterin | Metabolic control
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10. Full Text Nitric Oxide Modulates Metabolic Remodeling in Inflammatory Macrophages through TCA Cycle Regulation and Itaconate Accumulation
by Bailey, Jade D and Diotallevi, Marina and Nicol, Thomas and McNeill, Eileen and Shaw, Andrew and Chuaiphichai, Surawee and Hale, Ashley and Starr, Anna and Nandi, Manasi and Stylianou, Elena and McShane, Helen and Davis, Simon and Fischer, Roman and Kessler, Benedikt M and McCullagh, James and Channon, Keith M and Crabtree, Mark J
Cell reports (Cambridge), ISSN 2211-1247, 2019, Volume 28, Issue 1, pp. 218 - 230.e7
nitric oxide | tetrahydrobiopterin | immunometabolism | inflammation | mitochondria | macrophage metabolism | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Index Medicus
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11. Full Text International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
by Muntau, Ania C and Adams, Darius J and Bélanger-Quintana, Amaya and Bushueva, Tatiana V and Cerone, Roberto and Chien, Yin-Hsiu and Chiesa, Ana and Coşkun, Turgay and de las Heras, Javier and Feillet, François and Katz, Rachel and Lagler, Florian and Piazzon, Flavia and Rohr, Fran and van Spronsen, Francjan J and Vargas, Paula and Wilcox, Gisela and Bhattacharya, Kaustuv
Molecular genetics and metabolism, ISSN 1096-7192, 05/2019, Volume 127, Issue 1, pp. 1 - 11
Response | Pregnancy | Phenylketonuria | Phenylalanine | Tetrahydrobiopterin | Sapropterin dihydrochloride | ADULT PATIENTS | DIAGNOSIS | BASE-LINE | BH4 | HYPERPHENYLALANINEMIA | TETRAHYDROBIOPTERIN LOADING TEST | MATERNAL PHENYLKETONURIA | PKU | LONG-TERM TREATMENT | PHENYLALANINE-HYDROXYLASE DEFICIENCY | Endocrinology & Metabolism | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Index Medicus
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12. Full Text Cognitive Profile and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study
by Jahja, Rianne and van der Meere, Jaap J and Legemaat, Amanda M and Rubio-Gozalbo, M. Estela and Hofstede, Floris C and van der Ploeg, Ans T and Langendonk, Janneke G and Huijbregts, Stephan C. J and de Sonneville, Leo M. J and Bosch, Annet M and Hollak, Carla E. M and Brouwers, Martijn C. G. J and de Vries, Maaike C and Janssen, Mirian C. H and van Spronsen, Francjan J
Neuropsychology, ISSN 0894-4105, 05/2017, Volume 31, Issue 4, pp. 437 - 447
EARLY-TREATED PHENYLKETONURIA | tetrahydrobiopterin | METAANALYSIS | mental health | adults | SAPROPTERIN | CHILDREN | INDIVIDUALS | INHIBITION | executive functions | ADOLESCENTS | EXECUTIVE FUNCTION IMPAIRMENT | phenylketonuria | BLOOD PHENYLALANINE LEVELS | TETRAHYDROBIOPTERIN BH4
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13. Full Text Cognitive Profile and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study
by Jahja, Rianne and van der Meere, Jaap J and Legemaat, Amanda M and Rubio-Gozalbo, M. Estela and Hofstede, Floris C and van der Ploeg, Ans T and Langendonk, Janneke G and Huijbregts, Stephan C. J and de Sonneville, Leo M. J and Bosch, Annet M and Hollak, Carla E. M and Brouwers, Martijn C. G. J and de Vries, Maaike C and Janssen, Mirian C. H and van Spronsen, Francjan J
Neuropsychology, ISSN 0894-4105, 05/2017, Volume 31, Issue 4, pp. 437 - 447
EARLY-TREATED PHENYLKETONURIA | tetrahydrobiopterin | METAANALYSIS | mental health | adults | SAPROPTERIN | CHILDREN | INDIVIDUALS | INHIBITION | executive functions | ADOLESCENTS | EXECUTIVE FUNCTION IMPAIRMENT | phenylketonuria | BLOOD PHENYLALANINE LEVELS | TETRAHYDROBIOPTERIN BH4
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14. Full Text Retrospective analysis of 19 patients with 6-Pyruvoyl Tetrahydropterin Synthase Deficiency: Prolactin levels inversely correlate with growth
by Manzoni, Francesca and Salvatici, Elisabetta and Burlina, Alberto and Andrews, Ashley and Pasquali, Marzia and Longo, Nicola
Molecular genetics and metabolism, ISSN 1096-7192, 12/2020, Volume 131, Issue 4, pp. 380 - 389
Clinical outcome | Prolactin | Tetrahydrobiopterin | PTPS deficiency | Newborn screening | Neurotransmitter | Hyperphenylalaninemia | Index Medicus
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