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

Relation: http://www.sciencedirect.com/science/article/pii/S2214426923000691; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/3f9340edc6f641e7b32c95cdf0c3bfbd

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

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/43be0f31bdd2473da1912c53a72e3ee9

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

Relation: https://doaj.org/toc/2324-9269

URL الوصول: https://doaj.org/article/37a56a2eb2774d13ab3875744ea30e23

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

Relation: http://link.springer.com/article/10.1186/s13023-018-0890-7; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/fa8d0419b00e4e5aaeec6593e5894762

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

Relation: https://www.mdpi.com/2218-1989/11/10/680; https://doaj.org/toc/2218-1989

URL الوصول: https://doaj.org/article/86059efb2c2a4240b94e2a51578ffe4d

المؤلفون: Sabine Jung-Klawitter, Juliane Ebersold, Gudrun Göhring, Nenad Blau, Thomas Opladen

المصدر: Stem Cell Research, Vol 20, Iss C, Pp 38-41 (2017)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1873506117300247; https://doaj.org/toc/1873-5061; https://doaj.org/toc/1876-7753

URL الوصول: https://doaj.org/article/c431f7c54e334931a8b096d8369afd37

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

Relation: http://www.sciencedirect.com/science/article/pii/S2214426919301119; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/8eb9124a3766438b855a4243974faa1a

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

Relation: https://www.frontiersin.org/article/10.3389/fneur.2018.01016/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/fc97429234a845fc893fabcdc64d459c

المؤلفون: Kazuhiro Haginoya, Keisuke Wakusawa, Mitsugu Uematsu, Nenad Blau, Shigeru Tsuchiya

المصدر: The Tohoku Journal of Experimental Medicine. 2007, 213(4):373

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::544b3b2c4242ffbd96a97f0d6e48f1f9
https://doi.org/10.1016/j.ymgme.2021.03.008

المؤلفون: Corrado Angelini, Alberto Burlina, Nenad Blau, Carlos R. Ferreira

المساهمون: University of Zurich, Ferreira, Carlos R

المصدر: Molecular Genetics and Metabolism. 137:213-222

مصطلحات موضوعية: 1303 Biochemistry, Endocrinology, Diabetes and Metabolism, 610 Medicine & health, Biochemistry, 1310 Endocrinology, Diabetes and Metabolism, 2712 Endocrinology, Diabetes and Metabolism, Endocrinology, Muscular Diseases, Metabolic Diseases, 1311 Genetics, 10036 Medical Clinic, 1312 Molecular Biology, Genetics, Humans, Molecular Biology, Metabolism, Inborn Errors

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3804dccbfd19739f795417b7725e4171
https://doi.org/10.1016/j.ymgme.2022.09.004

المؤلفون: Lonneke de Boer, Alessandra Cambi, Lilly M. Verhagen, Paola de Haas, Clara D.M. van Karnebeek, Nenad Blau, Carlos R. Ferreira

المصدر: Molecular Genetics and Metabolism, 139
Molecular Genetics and Metabolism, 139, 1

مصطلحات موضوعية: Endocrinology, All institutes and research themes of the Radboud University Medical Center, Endocrinology, Diabetes and Metabolism, Genetics, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Molecular Biology, Biochemistry, Nanomedicine Radboud Institute for Molecular Life Sciences [Radboudumc 19]

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e254c40eaf1734de569133398c7436bd
http://hdl.handle.net/2066/292759

المؤلفون: Yaohua Zhang, V. Reid Sutton, Youqiong Ye, Chunru Lin, Lan Liao, Zhao Zhang, Yajuan Li, Shuxing Zhang, Nenad Blau, Cristian Coarfa, Manuel Schiff, Ke Liang, Sergey D. Egranov, Zhi Tan, Preethi H. Gunaratne, Qingsong Hu, Kuang-Lei Tsai, Yi Chuan Li, Yao Jun, Jean-Louis Guéant, François Feillet, Mien Chie Hung, Chunlai Li, Nagireddy Putluri, Tina K. Nguyen, David H. Hawke, Heidi Hsiao, George A. Calin, Ania C. Muntau, Zhen Xing, Sujash S. Chatterjee, Liuqing Yang, Farès Namour, Leng Han, Yinghong Pan, Jianming Xu

المصدر: Science

مصطلحات موضوعية: Male, Functional role, Acetylgalactosamine, RNA, Untranslated, HULC, Phenylalanine hydroxylase, Phenylalanine, Computational biology, Plasma protein binding, Article, Mice, Metabolic Diseases, Phenylketonurias, Drug Discovery, medicine, Animals, Humans, Pharmacology, Mice, Knockout, Multidisciplinary, biology, Chemistry, Metabolic disorder, Phenylalanine Hydroxylase, RNA, General Medicine, medicine.disease, Non-coding RNA, Biopterin, Diet, Disease Models, Animal, MicroRNAs, Liver, Biochemistry, Hepatocytes, biology.protein, Nucleic Acid Conformation, Female, RNA, Long Noncoding, Phenylalanine metabolism, Protein Binding

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8567609682721ffa5c0c9870eea506fc
https://doi.org/10.1126/science.aba4991

المؤلفون: Nastassja Himmelreich, Beat Thöny, Nenad Blau

المساهمون: University of Zurich, Blau, Nenad, Thöny, Beat

المصدر: Molecular Genetics and Metabolism. 133:123-136

مصطلحات موضوعية: 0301 basic medicine, 1303 Biochemistry, Endocrinology, Diabetes and Metabolism, GTP cyclohydrolase I, 610 Medicine & health, 030105 genetics & heredity, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Hyperphenylalaninemia, 1311 Genetics, 1312 Molecular Biology, Genetics, medicine, Allele, Sepiapterin reductase, Molecular Biology, biology, Tetrahydrobiopterin, Dihydropteridine Reductase, medicine.disease, 1310 Endocrinology, Diabetes and Metabolism, 2712 Endocrinology, Diabetes and Metabolism, QDPR, Monoamine neurotransmitter, 10036 Medical Clinic, biology.protein, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d0119ace9bce7e4446309d5f5901fe3
https://doi.org/10.1016/j.ymgme.2021.04.003

المؤلفون: Giulia Polo, Vincenza Gragnaniello, Georg F. Hoffmann, Chiara Cazzorla, Nenad Blau, Thomas Opladen, Alessandro P. Burlina, Antonella Giuliani, Daniela Gueraldi, Alberto Burlina

المساهمون: University of Zurich, Burlina, Alberto

المصدر: Molecular Genetics and Metabolism. 133:56-62

مصطلحات موضوعية: Male, 0301 basic medicine, 1303 Biochemistry, Dopamine, Endocrinology, Diabetes and Metabolism, 610 Medicine & health, 030105 genetics & heredity, Tandem mass spectrometry, Biochemistry, Levodopa, 03 medical and health sciences, chemistry.chemical_compound, Neonatal Screening, 0302 clinical medicine, Endocrinology, 1311 Genetics, Tandem Mass Spectrometry, 1312 Molecular Biology, Genetics, Humans, Medicine, AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY, Dried blood, Amino Acid Metabolism, Inborn Errors, Molecular Biology, Neurotransmitter Agents, Newborn screening, Spots, biology, business.industry, Infant, Newborn, Enzyme assay, 1310 Endocrinology, Diabetes and Metabolism, 2712 Endocrinology, Diabetes and Metabolism, Italy, chemistry, Aromatic-L-Amino-Acid Decarboxylases, 10036 Medical Clinic, biology.protein, Tyrosine, Biomarker (medicine), Female, business, 3-O-Methyldopa, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87e3a9a10c170aba9145ef3ad64c2fea
https://doi.org/10.1016/j.ymgme.2021.03.009

المؤلفون: Roeland A F Evers, Mariusz Ołtarzewski, Georg F. Hoffmann, Vincenzo Leuzzi, Emil Polak, Youngguo Yu, Maria Gizewska, Belén Pérez, Ana Chiesa, Marianne Rohrbach, Alexander V. Polyakov, Lena Fajkusova, Maja Stojiljkovic, Carla Carducci, Beat Thöny, Farès Namour, Jerry Vockley, Andrea Paras, Francjan J. van Spronsen, François Feillet, Sabine Scholl-Bürgi, Francesco Porta, Amaya Belanger-Quintana, Anastasia Skouma, Barbara K. Burton, Pedro E. Bonfim-Freitas, Sergey I. Kutsev, Johannes Zschocke, Uta Lichter-Konecki, Luiz Carlos Santana da Silva, Katya Kneller, Lourdes R. Desviat, Sven F. Garbade, Aviva Eliyahu, Alicia Hillert, Vera Stoppioni, Nenad Blau, Polina Gundorova, Norma Specola, Yair Anikster, John Christodoulou, Alberto Burlina, Maja Đorđević, Daniela Karall, Harvey L. Levy, Nan Shen, Friedrich K. Trefz, Ania C. Muntau

المساهمون: Center for Liver, Digestive and Metabolic Diseases (CLDM)

المصدر: Am J Hum Genet
American Journal of Human Genetics, 107(2), 234-250. CELL PRESS
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

مصطلحات موضوعية: 0301 basic medicine, PAH DEFICIENCY, BH4, PAH deficiency, PKU, hyperphenylalaninemia, phenylalanine, tetrahydrobiopterin, Compound heterozygosity, PHENYLALANINE-HYDROXYLASE DEFICIENCY, TETRAHYDROBIOPTERIN, 0302 clinical medicine, Genotype-phenotype distinction, Hyperphenylalaninemia, Gene Frequency, Phenylketonurias, Genotype, MOLECULAR CHARACTERIZATION, Genetics (clinical), GENOTYPE-PHENOTYPE CORRELATIONS, Genetics, biology, PHENYLALANINE, Homozygote, Phenylalanine Hydroxylase, Phenotype, STATE, 3. Good health, Europe, symbols, purl.org/becyt/ford/3 [https], HYPERPHENYLALANINEMIA, Phenylalanine hydroxylase, Phenylalanine, DIAGNOSIS, PATIENT, Article, purl.org/becyt/ford/3.3 [https], 03 medical and health sciences, symbols.namesake, medicine, Humans, Genetic Predisposition to Disease, Allele, Alleles, Genetic Association Studies, PAH GENE, MUTATIONS, medicine.disease, Biopterin, 030104 developmental biology, ORIGINS, Mutation, Mendelian inheritance, biology.protein, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::768b402852aaa9ae171798302180500a
https://research.rug.nl/en/publications/2c098ef6-f19a-4318-89ba-1f1b7f93649b

المؤلفون: Robert Stowe, Carlos Ferreira, Nenad Blau, Gabriella Horvath

المصدر: Molecular Genetics and Metabolism. 130:1-6

مصطلحات موضوعية: 0301 basic medicine, Psychosis, medicine.medical_specialty, Bipolar Disorder, Autism Spectrum Disorder, Endocrinology, Diabetes and Metabolism, Anxiety, 030105 genetics & heredity, Biochemistry, Diagnosis, Differential, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Metabolic Diseases, Genetics, medicine, Humans, Psychiatry, Molecular Biology, Organ system, Depression (differential diagnoses), business.industry, medicine.disease, Aggression, Mood, Attention Deficit Disorder with Hyperactivity, Autism spectrum disorder, Attention deficit, Autism, medicine.symptom, business, Biomarkers, Metabolism, Inborn Errors, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2536a237751416cea86b42d533e82c6d
https://doi.org/10.1016/j.ymgme.2020.02.007

المؤلفون: Teodoro Jerves, Nenad Blau, Carlos R. Ferreira

المصدر: Mol Genet Metab

مصطلحات موضوعية: Diagnosis, Differential, Endocrinology, Carcinoma, Hepatocellular, Tyrosinemias, Endocrinology, Diabetes and Metabolism, Liver Neoplasms, Genetics, Humans, Glycogen Storage Disease, Molecular Biology, Biochemistry, Article

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::813e23e30cdae0ddcf35532645a5d870
https://europepmc.org/articles/PMC9189061/

المؤلفون: Nastassja Himmelreich, Clara Köller, Nenad Blau, Jürgen G. Okun, Saskia B. Wortmann, Christian Thiel

المصدر: Molecular Genetics and Metabolism. 138:107423

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1e23373785da7ffe82b6cadb698ca8eb
https://doi.org/10.1016/j.ymgme.2023.107423

المؤلفون: Nastassja Himmelreich, Mariarita Bertoldi, Giovanni Bisello, Yair Anikster, Bruria Ben Zeev, Yin-Hsiu Chien, Wuh-Liang Hwu, Manju Kurian, Robert Spaull, Phillip L. Pearl, Belen Perez, Roser Pons, Beat Thony, Oya Kuseyri Hübschmann, Kathrin Jeltsch, Thomas Opladen, Nenad Blau

المصدر: Molecular Genetics and Metabolism. 138:107421

مصطلحات موضوعية: Endocrinology, Endocrinology, Diabetes and Metabolism, Genetics, Molecular Biology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d5b7d46a32db635393d44beb7b635d0e
https://doi.org/10.1016/j.ymgme.2023.107421