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1دورية أكاديمية
المؤلفون: Sheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, Nenad Blau, Richard Rodenburg, Ching-wan Lam, Virginia Chun-Nei Wong, Fanny Mochel, Ron A. Wevers, Cheuk-Wing Fung
المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101023- (2024)
مصطلحات موضوعية: CYP2U1, Cerebral folate deficiency, Cerebral folate, Folinic acid, Spastic paraplegia 56, 5-methyltetrahydrofolate, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426923000691Test; https://doaj.org/toc/2214-4269Test
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2دورية أكاديمية
المؤلفون: Carla Carducci, Wajdi Amayreh, Haneen Ababneh, Amjad Mahasneh, Buthaina Al Rababah, Kefah Al Qaqa, Momen Al Aqeel, Cristiana Artiola, Manuela Tolve, Sirio D'Amici, Nan Shen, Yongguo Yu, Alicia Hillert, Nastassja Himmelreich, Jürgen G. Okun, Georg F. Hoffmann, Nenad Blau
المصدر: JIMD Reports, Vol 55, Iss 1, Pp 59-67 (2020)
مصطلحات موضوعية: genotyping, newborn screening, phenylketonuria, PKU incidence, tetrahydrobiopterin, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2192-8312Test
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3دورية أكاديمية
المؤلفون: Danique van Vliet, Annemiek M. J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, Fatma D. Bulut, Kari Casas, Bozena Didycz, Maja Djordjevic, Antonio Federico, François Feillet, Maria Gizewska, Gwendolyn Gramer, Jozef L. Hertecant, Carla E. M. Hollak, Jens V. Jørgensen, Daniela Karall, Yuval Landau, Vincenzo Leuzzi, Per Mathisen, Kathryn Moseley, Neslihan Ö. Mungan, Francesca Nardecchia, Katrin Õunap, Kimberly K. Powell, Radha Ramachandran, Frank Rutsch, Aria Setoodeh, Maja Stojiljkovic, Fritz K. Trefz, Natalia Usurelu, Callum Wilson, Clara D. van Karnebeek, William B. Hanley, Francjan J. van Spronsen
المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
مصطلحات موضوعية: Phenylketonuria, Phenylalanine, Late-diagnosed, Untreated, Brain vulnerability, Intellectual disability, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-018-0890-7Test; https://doaj.org/toc/1750-1172Test
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4دورية أكاديمية
المؤلفون: Hardo Lilleväli, Sander Pajusalu, Monica H. Wojcik, Julia Goodrich, Ryan L. Collins, Ülle Murumets, Pille Tammur, Nenad Blau, Kersti Lilleväli, Katrin Õunap
المصدر: Molecular Genetics & Genomic Medicine, Vol 8, Iss 4, Pp n/a-n/a (2020)
مصطلحات موضوعية: dihydropteridine reductase deficiency, genome sequencing, inversion, QDPR gene, tetrahydrobiopterin deficiencies, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2324-9269Test
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5دورية أكاديمية
المؤلفون: Neil Smith, Nicola Longo, Keith Levert, Keith Hyland, Nenad Blau
المصدر: Molecular Genetics and Metabolism Reports, Vol 21, Iss , Pp - (2019)
مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426919301119Test; https://doaj.org/toc/2214-4269Test
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6دورية أكاديمية
المؤلفون: Dorothea Haas, Jana Hauke, Kathrin V. Schwarz, Lucia Consalvi, Friedrich K. Trefz, Nenad Blau, Georg F. Hoffmann, Peter Burgard, Sven F. Garbade, Jürgen G. Okun
المصدر: Metabolites, Vol 11, Iss 10, p 680 (2021)
مصطلحات موضوعية: phenylketonuria, PKU, phenylalanine, treatment, dried blood spot, plasma, Microbiology, QR1-502
وصف الملف: electronic resource
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7دورية أكاديمية
المصدر: Stem Cell Research, Vol 20, Iss C, Pp 38-41 (2017)
مصطلحات موضوعية: Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S1873506117300247Test; https://doaj.org/toc/1873-5061Test; https://doaj.org/toc/1876-7753Test
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8دورية أكاديمية
المؤلفون: Clara D. M. van Karnebeek, Bryan Sayson, Jessica J. Y. Lee, Laura A. Tseng, Nenad Blau, Gabriella A. Horvath, Carlos R. Ferreira
المصدر: Frontiers in Neurology, Vol 9 (2018)
مصطلحات موضوعية: inborn errors of metabolism, metabolic epilepsy, seizures, diagnostic algorithm, treatment, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fneur.2018.01016/fullTest; https://doaj.org/toc/1664-2295Test
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9دورية أكاديمية
المصدر: The Tohoku Journal of Experimental Medicine. 2007, 213(4):373
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10
المؤلفون: Nenad Blau, Carlos Ferreira, Gabriella Horvath
المصدر: Molecular Genetics and Metabolism. 137:445-448
مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Ataxia, Physical disability, Endocrinology, Diabetes and Metabolism, 030105 genetics & heredity, Biochemistry, Cerebral palsy, Diagnosis, Differential, 03 medical and health sciences, Epilepsy, 0302 clinical medicine, Endocrinology, Metabolic Diseases, Genetics, Humans, Medicine, Spasticity, Molecular Biology, business.industry, Cerebral Palsy, medicine.disease, Hypertonia, medicine.symptom, Differential diagnosis, business, Developmental regression, Metabolism, Inborn Errors, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::544b3b2c4242ffbd96a97f0d6e48f1f9Test
https://doi.org/10.1016/j.ymgme.2021.03.008Test