المؤلفون: Stephanie Maissen-Abgottspon, Raphaela Muri, Michel Hochuli, Péter Reismann, András Gellért Barta, Ismail Mucahit Alptekin, Álvaro Hermida-Ameijeiras, Alessandro P. Burlina, Alberto B. Burlina, Chiara Cazzorla, Jessica Carretta, Roman Trepp, Regula Everts

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Phenylketonuria, Health-related quality of life, Inherited metabolic disease, Cognition, Metabolic control, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/9de6a35a1c3e47259c17ab8c1cb6dde5

المؤلفون: András Gellért Barta, Csaba Sumánszki, Zsófia Turgonyi, Erika Kiss, Erika Simon, Csilla Serfőző, Péter Reismann

المصدر: Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)

مصطلحات موضوعية: PKU, Phenylketonuria, HRQoL, Health related quality of life, Adult, Early treated, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920300355; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/e15dbaa1e7694bf88bf05855e3dfae07

المؤلفون: Miklós D. Resch, Csaba Sumanszki, András Gellért Barta, Csilla Serfozo, Zoltán Zsolt Nagy, Péter Reismann, Béla Csákány, Endre Horvath

المصدر: Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100767-(2021)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Medicine (General), genetic structures, sine-wave contrast test, (SWCT), external limiting membrane/inner segment of photoreceptors/outer segment of photoreceptors, (ELM/IS/OS), Dopamine, Spherical equivalent, dopamine, (DA), chemistry.chemical_compound, visual evoked potential, (VEP), Endocrinology, outer retinal layer, (ORL), deep capillary plexus, (DCP), Optical Coherence Tomography Angiography, (OCTA), Contrast (vision), ganglion cell complex, (GCC), Phenylketonuria, Phenylketonuria (PKU), tetrahydrobiopterin, (BH4), Biology (General), media_common, medicine.diagnostic_test, Macular retinal vessel density, Phenylalanine level, inner nuclear layer, (INL), Optical Coherence Tomography, (OCT), ganglion cell layer, (GCL), Stereoscopic acuity, superficial capillary plexus, (SCP), phenylalanine hydroxylase gene, (PAH), Macular thickness, vessel density, (VD), total retinal layer thickness, (TRLT), outer plexiform layer, (OPL), Research Paper, medicine.medical_specialty, split-spectrum amplitude-decorrelation angiography, (SSADA), QH301-705.5, media_common.quotation_subject, contrast sensitivity, (CS), retinal nerve fiber layer, (RNFL), early treated phenylketonuria, (ETPKU), phenylketonuria, (PKU), spherical equivalent, (SE), Vessel density, R5-920, Optical coherence tomography, Ophthalmology, axial length, (AL), Genetics, medicine, inner retinal layer, (IRL), intraocular pressure, (IOP), Molecular Biology, spectral domain, (SD), Tyrosine, (Tyr), Adult patients, business.industry, retinal pigment epithelium, (RPE), signal strength index, (SSI), Retinal, inner limiting membrane, (ILM), visual acuity, (VA), inner plexiform layer, (IPL), medicine.disease, eye diseases, Optical coherence tomography angiography, chemistry, aminoacid supplements, (AAS), diopters, (D), Parkinson's disease, (PD), outer nuclear layer, (ONL), sense organs, Phenylalanine, (Phe), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6fc51a5d301d3147d96e4723db70235f
http://www.sciencedirect.com/science/article/pii/S2214426921000616

المؤلفون: Endre Horvath, Csaba Sumanszki, Csilla Serfozo, Béla Csákány, András Gellért Barta, Péter Reismann, Miklós D. Resch, Zoltán Zsolt Nagy

المصدر: Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100649-(2020)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Intraocular pressure, genetic structures, Dopamine, FLV, focal loss of volume, Nerve fiber layer, ETPKU, early-treated phenylketonuria, PD, Parkinson's disease, OCTA, optical coherence tomography angiography, chemistry.chemical_compound, Endocrinology, ETDRS, early treatment diabetic retinopathy study, VEPs, Visual evoked potentials, Myopia, Contrast (vision), Phenylketonuria, lcsh:QH301-705.5, media_common, lcsh:R5-920, OCT, optical coherence tomography, medicine.diagnostic_test, Phenylalanine level, GCC, ganglion cell layer thickness, LogMAR, logarithm of the minimum angle of resolution, Ganglion, Stereoscopic acuity, VD, vessel density, medicine.anatomical_structure, SD, spectral domain, AL, axial length, D, diopters, Phe, phenylalanine, lcsh:Medicine (General), Research Paper, BCVA, best corrected visual acuity, medicine.medical_specialty, media_common.quotation_subject, PKU, phenylketonuria, GMP, Glycomacropeptide, SE, spherical equivalent, Retinal nerve fiber layer thickness, Ophthalmology, Genetics, medicine, AAS, aminoacid supplements, SWCT, sine wave contrast test, RNFL, retinal nerve fiber layer, Ganglion cell layer thickness, Molecular Biology, Ganglion cell layer, business.industry, BH4, Tetrahydrobiopterine, Retinal, RNFLT, retinal nerve fiber layer thickness, IOP, intraocular pressure, eye diseases, Optical coherence tomography angiography, chemistry, lcsh:Biology (General), Angiography, GLV, global loss of volume, DA, dopamine, sense organs, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9624aa6d7f652c1bb5d58c5c239a202
http://www.sciencedirect.com/science/article/pii/S2214426920300951

المؤلفون: E. Kiss, Zsófia Turgonyi, András Gellért Barta, Csaba Sumanszki, Péter Reismann, Csilla Serfőző, Erika Simon

المصدر: Molecular Genetics and Metabolism Reports, Vol 23, Iss, Pp-(2020)
Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, HRQoL, health related quality of life, PKU, phenylketonuria, Affect (psychology), ETPKU, early-treated phenylketonuria, Early initiation, HRQoL, Endocrinology, HPA, hyperphenylalaninaemia, Genetics, Medicine, Phenylketonuria, Health related quality of life, Disease management (health), Molecular Biology, lcsh:QH301-705.5, AAS, amino acid supplements, IQR, interquartile range, lcsh:R5-920, GMP, glycomacropeptide, business.industry, nutritional and metabolic diseases, Tyr, tyrosine, humanities, PKU-QoL, Phenylketonuria Quality of Life questionnaires, lcsh:Biology (General), Metabolic control analysis, PKU, Correlation analysis, Observational study, Early treated, Phe, phenylalanine, SD, standard deviation, business, lcsh:Medicine (General), Psychosocial, Research Paper

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0ce04742c80165e2e664334c05cd03d
http://www.sciencedirect.com/science/article/pii/S2214426920300355

المؤلفون: Péter Reismann, Attila Patócs, E. Kiss, Erika Simonova, Eszter D. Juhasz

المصدر: European Journal of Medical Research

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Pituitary gland, endocrine system, Adolescent, Phenylketonurias, Phenylalanine, Dopamine, Dopamine Agents, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Internal medicine, Medicine, Humans, Phenylketonuria, Young adult, Tyrosine, business.industry, Research, nutritional and metabolic diseases, General Medicine, Middle Aged, Prognosis, Prolactin, 030104 developmental biology, Endocrinology, medicine.anatomical_structure, Cross-Sectional Studies, PKU, Biomarker (medicine), Female, business, 030217 neurology & neurosurgery, hormones, hormone substitutes, and hormone antagonists, Biomarkers, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1741bc4b9f273bba8a4ac3c865d1ae4
https://pubmed.ncbi.nlm.nih.gov/27169416