المؤلفون: Júlio C. Rocha, Álvaro Hermida, Cheryl J. Jones, Yunchou Wu, Gillian E. Clague, Sarah Rose, Kaleigh B. Whitehall, Kirsten K. Ahring, André L. S. Pessoa, Cary O. Harding, Fran Rohr, Anita Inwood, Nicola Longo, Ania C. Muntau, Serap Sivri, François Maillot

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-22 (2024)

مصطلحات موضوعية: Phenylketonuria, Phenylalanine, Bone, Bone mineral density, Osteopenia, Osteoporosis, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/15082e08da8b449cac44d28e7fa3df9c

المؤلفون: Kaleigh B. Whitehall, Sarah Rose, Gillian E. Clague, Kirsten K. Ahring, Deborah A. Bilder, Cary O. Harding, Álvaro Hermida, Anita Inwood, Nicola Longo, François Maillot, Ania C. Muntau, André L. S. Pessoa, Júlio C. Rocha, Fran Rohr, Serap Sivri, Jack Said, Sheun Oshinbolu, Gillian C. Sibbring

المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-51 (2024)

مصطلحات موضوعية: Phenylketonuria, Phenylalanine hydroxylase, Phenylalanine, Comorbidity, Diet, Disease burden, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/2dc70781578846fc93ab92e719142d46

المؤلفون: Johanna M Jank, Esther M Maier, Dunja D Reiβ, Martin Haslbeck, Kristina F Kemter, Marietta S Truger, Christian P Sommerhoff, Sacha Ferdinandusse, Ronald J Wanders, Søren W Gersting, Ania C Muntau

المصدر: PLoS ONE, Vol 9, Iss 4, p e93852 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3981736?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/56d090c0398d4ebb9e1d79f903d77bbd

المؤلفون: Corinna Grasemann, Jakob Höppner, Peter Burgard, Michael M. Schündeln, Nora Matar, Gabriele Müller, Heiko Krude, Reinhard Berner, Min Ae Lee-Kirsch, Fabian Hauck, Kerstin Wainwright, Sylvana Baumgarten, Janet Atinga, Jens J. Bauer, Eva Manka, Julia Körholz, Cordula Kiewert, André Heinen, Tanita Kretschmer, Tobias Kurth, Janna Mittnacht, Christoph Schramm, Christoph Klein, Holm Graessner, Olaf Hiort, Ania C. Muntau, Annette Grüters, Georg F. Hoffmann, Daniela Choukair

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Transition, Rare disease, Pathway, Empowerment, Health literacy, Adolescent health, Medicine

وصف الملف: electronic resource

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

URL الوصول: https://doaj.org/article/ef5f9b76b7484569ab9e82d3e5536374

المؤلفون: Fabian Braun, Ahmed Abed, Dominik Sellung, Manuel Rogg, Mathias Woidy, Oysten Eikrem, Nicola Wanner, Jessica Gambardella, Sandra D. Laufer, Fabian Haas, Milagros N. Wong, Bernhard Dumoulin, Paula Rischke, Anne Mühlig, Wiebke Sachs, Katharina von Cossel, Kristina Schulz, Nicole Muschol, Sören W. Gersting, Ania C. Muntau, Oliver Kretz, Oliver Hahn, Markus M. Rinschen, Michael Mauer, Tillmann Bork, Florian Grahammer, Wei Liang, Thorsten Eierhoff, Winfried Römer, Arne Hansen, Catherine Meyer-Schwesinger, Guido Iaccarino, Camilla Tøndel, Hans-Peter Marti, Behzad Najafian, Victor G. Puelles, Christoph Schell, Tobias B. Huber

المصدر: The Journal of Clinical Investigation, Vol 133, Iss 11 (2023)

مصطلحات موضوعية: Genetics, Nephrology, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1558-8238

URL الوصول: https://doaj.org/article/c82d0427278d4ae092a98644e9de535c

المؤلفون: Madalena Barroso, Marcus Gertzen, Alexandra F. Puchwein-Schwepcke, Heike Preisler, Andreas Sturm, Dunja D. Reiss, Marta K. Danecka, Ania C. Muntau, Søren W. Gersting

المصدر: International Journal of Molecular Sciences; Volume 24; Issue 17; Pages: 13158

مصطلحات موضوعية: glutaric aciduria, GA1, GCDH, protein folding, organic aciduria

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Biochemistry; https://dx.doi.org/10.3390/ijms241713158

الاتاحة: https://doi.org/10.3390/ijms241713158

المؤلفون: Jasmin K. Lalia, Raphael Schild, Marc Lütgehetmann, Gabor A. Dunay, Tilmann Kallinich, Robin Kobbe, Mona Massoud, Jun Oh, Leonora Pietzsch, Ulf Schulze-Sturm, Catharina Schuetz, Freya Sibbertsen, Fabian Speth, Sebastian Thieme, Mario Witkowski, Reinhard Berner, Ania C. Muntau, Søren W. Gersting, Nicole Toepfner, Julia Pagel, Kevin Paul

المصدر: Viruses; Volume 15; Issue 7; Pages: 1553

مصطلحات موضوعية: T cell, pediatric, SARS-CoV-2, solid organ transplant, glomerulonephritis

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: SARS-CoV-2 and COVID-19; https://dx.doi.org/10.3390/v15071553

الاتاحة: https://doi.org/10.3390/v15071553

المؤلفون: Júlio César Rocha, Kirsten K. Ahring, Heather Bausell, Deborah A. Bilder, Cary O. Harding, Anita Inwood, Nicola Longo, Ania C. Muntau, André L. Santos Pessoa, Fran Rohr, Serap Sivri, Álvaro Hermida

المصدر: Nutrients, Vol 15, Iss 3940, p 3940 (2023)

مصطلحات موضوعية: phenylketonuria, PKU, adult, comorbidities, medical nutrition therapy, low Phe diet, Nutrition. Foods and food supply, TX341-641

Relation: https://www.mdpi.com/2072-6643/15/18/3940; https://doaj.org/toc/2072-6643; https://doaj.org/article/2068e16e9ca341faa64ac060a258f026

الاتاحة: https://doi.org/10.3390/nu15183940
https://doaj.org/article/2068e16e9ca341faa64ac060a258f026

المؤلفون: Kevin Paul, Freya Sibbertsen, Daniela Weiskopf, Marc Lütgehetmann, Madalena Barroso, Marta K. Danecka, Laura Glau, Laura Hecher, Katharina Hermann, Aloisa Kohl, Jun Oh, Julian Schulze zur Wiesch, Alessandro Sette, Eva Tolosa, Eik Vettorazzi, Mathias Woidy, Antonia Zapf, Dimitra E. Zazara, Thomas S. Mir, Ania C. Muntau, Søren W. Gersting, Gabor A. Dunay

المصدر: Frontiers in Immunology, Vol 13 (2022)

مصطلحات موضوعية: peptide, variant of concern (VOC), ancestral, activation induced marker (AIM), human coronavirus (HCoV), pediatric, Immunologic diseases. Allergy, RC581-607

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.867577/full; https://doaj.org/toc/1664-3224

URL الوصول: https://doaj.org/article/dabcef70a6e542e4bc63fee1cda99d08

المؤلفون: Ania C. Muntau (549316), Alberto Burlina (3543140), François Eyskens (301890), Peter Freisinger (3822628), Vincenzo Leuzzi (500280), Hatice Serap Sivri (11227738), Gwendolyn Gramer (3822619), Renata Pazdírková (3822631), Maureen Cleary (1460962), Amelia S. Lotz-Havla (11227741), Paul Lane (4921480), Ignacio Alvarez (11227744), Frank Rutsch (11533)

مصطلحات موضوعية: Medicine, Physiology, Ecology, Immunology, Developmental Biology, Infectious Diseases, Computational Biology, Hyperphenylalaninaemia, Phenylketonuria, Infants, Therapy recommendations, Sapropterin dihydrochloride

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Long-term_efficacy_and_safety_of_sapropterin_in_patients_who_initiated_sapropterin_at_4_years_of_age_with_phenylketonuria_results_of_the_3-year_extension_of_the_SPARK_open-label_multicentre_randomised_phase_IIIb_trial/15102643

الاتاحة: https://doi.org/10.6084/m9.figshare.15102643.v1

المؤلفون: Ania C. Muntau (549316), Alberto Burlina (3543140), François Eyskens (301890), Peter Freisinger (3822628), Vincenzo Leuzzi (500280), Hatice Serap Sivri (11227738), Gwendolyn Gramer (3822619), Renata Pazdírková (3822631), Maureen Cleary (1460962), Amelia S. Lotz-Havla (11227741), Paul Lane (4921480), Ignacio Alvarez (11227744), Frank Rutsch (11533)

مصطلحات موضوعية: Medicine, Physiology, Ecology, Immunology, Developmental Biology, Infectious Diseases, Computational Biology, Hyperphenylalaninaemia, Phenylketonuria, Infants, Therapy recommendations, Sapropterin dihydrochloride

Relation: https://figshare.com/articles/journal_contribution/Additional_file_2_of_Long-term_efficacy_and_safety_of_sapropterin_in_patients_who_initiated_sapropterin_at_4_years_of_age_with_phenylketonuria_results_of_the_3-year_extension_of_the_SPARK_open-label_multicentre_randomised_phase_IIIb_trial/15102646

الاتاحة: https://doi.org/10.6084/m9.figshare.15102646.v1

المؤلفون: Amelie S. Lotz-Havla (2141563), Mathias Woidy (2141566), Philipp Guder (10828189), Caroline C. Friedel (7812728), Julian M. Klingbeil (11269196), Ana-Maria Bulau (11269199), Anja Schultze (11269202), Ilona Dahmen (11269205), Heidi Noll-Puchta (10230221), Stephan Kemp (149646), Ralf Erdmann (170790), Ralf Zimmer (21157), Ania C. Muntau (549316), Søren W. Gersting (549315)

مصطلحات موضوعية: Biophysics, Biochemistry, Medicine, Genetics, Molecular Biology, Biotechnology, Cancer, Plant Biology, Computational Biology, Biological Sciences not elsewhere classified, Information Systems not elsewhere classified, PEX, ABCD 1, ECI, PXMP, bioluminescence resonance energy tr., X-ALD, ABCD 1 protein, iBRET, ALDH 3A DAO, interaction, PIPOX, ABCD 1 Peroxisomal Network, Mutation-Induced Network Perturbati.

Relation: https://figshare.com/articles/journal_contribution/iBRET_Screen_of_the_ABCD1_Peroxisomal_Network_and_Mutation-Induced_Network_Perturbations/15160604

الاتاحة: https://doi.org/10.1021/acs.jproteome.1c00330.s001

المؤلفون: Mika Scheinin, Jouni Junnila, Giorgio Reiner, Anita MacDonald, Ania C. Muntau

المصدر: Nutrients; Volume 13; Issue 9; Pages: 3189

مصطلحات موضوعية: phenylketonuria, nitrogen balance, amino acid catabolism, blood urea nitrogen, prolonged release

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Clinical Nutrition; https://dx.doi.org/10.3390/nu13093189

الاتاحة: https://doi.org/10.3390/nu13093189

المؤلفون: Ania C. Muntau, Alberto Burlina, François Eyskens, Peter Freisinger, Vincenzo Leuzzi, Hatice Serap Sivri, Gwendolyn Gramer, Renata Pazdírková, Maureen Cleary, Amelia S. Lotz-Havla, Paul Lane, Ignacio Alvarez, Frank Rutsch

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)

مصطلحات موضوعية: Hyperphenylalaninaemia, Phenylketonuria, Infants, Therapy recommendations, Sapropterin dihydrochloride, Medicine

Relation: https://doi.org/10.1186/s13023-021-01968-1; https://doaj.org/toc/1750-1172; https://doaj.org/article/63fd4568c46247219b22665cafdc58b9

الاتاحة: https://doi.org/10.1186/s13023-021-01968-1
https://doaj.org/article/63fd4568c46247219b22665cafdc58b9

المؤلفون: Amelie S. Lotz-Havla, Mathias Woidy, Philipp Guder, Jessica Schmiesing, Ralf Erdmann, Hans R. Waterham, Ania C. Muntau, Søren W. Gersting

المصدر: Frontiers in Genetics, Vol 12 (2021)

مصطلحات موضوعية: network medicine, edgetic perturbations, PEX26, BRET, peroxisome, Genetics, QH426-470

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2021.726174/full; https://doaj.org/toc/1664-8021; https://doaj.org/article/1d918e65f1b043d5b0911c91c23a0f2f

الاتاحة: https://doi.org/10.3389/fgene.2021.726174
https://doaj.org/article/1d918e65f1b043d5b0911c91c23a0f2f

المؤلفون: Friedrich Trefz, Ania C. Muntau, Kim M. Schneider, Julia Altevers, Christian Jacob, Sebastian Braun, Wolfgang Greiner, Ashok Jha, Mohit Jain, Ignacio Alvarez, Paul Lane, Claudia Zeiss, Frank Rutsch

المصدر: Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100764- (2021)

مصطلحات موضوعية: Phenylketonuria, Cost of illness, Health resource utilization, Burden of disease, Claims data, Statutory health insurance, Medicine (General), R5-920, Biology (General), QH301-705.5

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921000586; https://doaj.org/toc/2214-4269; https://doaj.org/article/37f39b17d62a44c5b913c786fef59068

الاتاحة: https://doi.org/10.1016/j.ymgmr.2021.100764
https://doaj.org/article/37f39b17d62a44c5b913c786fef59068

المؤلفون: Martin Merkel, Daniela Berg, Norbert Brüggemann, Joseph Classen, Tina Mainka, Simone Zittel, Ania C. Muntau

المصدر: Journal of Neurology.

مصطلحات موضوعية: Neurology, Neurology (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c0e3627bf36dd62f158b813f9748f26a
https://doi.org/10.1007/s00415-023-11703-4

المؤلفون: Marietta Jank, Anna-Lisa Oechsle, Jakob Armann, Uta Behrends, Reinhard Berner, Cho-Ming Chao, Natalie Diffloth, Maren Doenhardt, Gesine Hansen, Markus Hufnagel, Fabian Lander, Johannes G. Liese, Ania C. Muntau, Tim Niehues, Ulrich von Both, Eva Verjans, Katharina Weil, Rüdiger von Kries, Horst Schroten

المصدر: Infection.

مصطلحات موضوعية: Microbiology (medical), Infectious Diseases, General Medicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::982d1e543bad8e63b2426120ce5a0366
https://doi.org/10.1007/s15010-023-01996-y

المؤلفون: Ania C. Muntau, Marcel du Moulin, Francois Feillet

المصدر: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)

مصطلحات موضوعية: Infants, Diagnosis, Therapy recommendations, Sapropterin dihydrochloride, Phenylketonuria, BH4, Medicine

Relation: http://link.springer.com/article/10.1186/s13023-018-0911-6; https://doaj.org/toc/1750-1172; https://doaj.org/article/89b1c47457294b39bf8077a608949e0e

الاتاحة: https://doi.org/10.1186/s13023-018-0911-6
https://doaj.org/article/89b1c47457294b39bf8077a608949e0e

المؤلفون: Søren W Gersting, Caroline C. Friedel, Philipp Guder, Stephan Kemp, Anja Schultze, Julian M Klingbeil, Amelie S. Lotz-Havla, Ania C. Muntau, Ralf Zimmer, Ralf Erdmann, Ana-Maria Bulau, Mathias Woidy, Ilona Dahmen, Heidi Noll-Puchta

المساهمون: Laboratory Genetic Metabolic Diseases, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Journal of proteome research, 20(9), 4366-4380. American Chemical Society

مصطلحات موضوعية: X-ALD, Informatics, lipid droplets, interactome, Computational biology, Biology, medicine.disease_cause, ATP Binding Cassette Transporter, Subfamily D, Member 1, fatty acids, Biochemistry, Interactome, Protein–protein interaction, protein-protein interaction, PEX10, FAR1, Interaction network, medicine, Animals, Mutation, screening, ABCD1, General Chemistry, Peroxisome, medicine.disease, Phenotype, Energy Transfer, bioluminescence resonance energy transfer, ATP-Binding Cassette Transporters, BRET, Adrenoleukodystrophy, living cells

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95ad52d8470a060cc81d7c785d0d7557
https://doi.org/10.1021/acs.jproteome.1c00330