المؤلفون: Timothy Nicholas Fazio, Louise Healy, Tim Heise, Anita Inwood, Catherine Manolikos, Yusof Rahman, Hans-Juergen Woerle, Christian J. Hendriksz

المصدر: Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101012- (2023)

مصطلحات موضوعية: Phenylketonuria, CDX-6114, Enzyme, Cinnamic acid, Phenylalanine hydroxylase, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426923000587Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/e8398e8fcb364d829a0c08abebf5f4a0Test

المؤلفون: Arthavan Selvanathan, Kalliope Demetriou, Matthew Lynch, Michelle Lipke, Carolyn Bursle, Aoife Elliott, Anita Inwood, Leanne Foyn, Brett McWhinney, David Coman, Jim McGill

المصدر: JIMD Reports, Vol 63, Iss 5, Pp 420-424 (2022)

مصطلحات موضوعية: 3‐methylglutaconic aciduria, mitochondrial dysfunction, N‐acetylglutamate synthase deficiency, Urea cycle disorder, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/baa9a26fcbdc464fb979306bb62699ecTest

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 18, p 3940 (2023)

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

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2072-6643/15/18/3940Test; https://doaj.org/toc/2072-6643Test

الوصول الحر: https://doaj.org/article/2068e16e9ca341faa64ac060a258f026Test

المؤلفون: Kaleigh Bulloch Whitehall, Sarah Rose, Gillian Clague, Kirsten Ahring, Deborah Bilder, Cary Harding, Álvaro Hermida, Anita Inwood, Nicola Longo, François Maillot, Ania Muntau, André Santos Pessoa, Júlio César Rocha, Fran Rohr, H. Serap Sivri, Jack Said, Sheun Oshinbolu, Gillian Sibbring

المصدر: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100042- (2023)

مصطلحات موضوعية: Genetics, QH426-470, Medicine

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2949774423000420Test; https://doaj.org/toc/2949-7744Test

الوصول الحر: https://doaj.org/article/541810f0cdc74adc8a8b071143824c56Test

المؤلفون: Kaustuv Bhattacharya, Shanti Balasubramaniam, Kevin Murray, Heidi Peters, David Ketteridge, Anita Inwood, Joy Lee, Carolyn Ellaway, Penny Owens, Melanie Wong, Christine Ly, Jim McGill

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)

مصطلحات موضوعية: efficacy, elosulfase alfa, enzyme replacement therapy, mucopolysaccharidosis IVA, Morquio A syndrome, safety, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100303&tlng=enTest; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/dae1f9a672474bbca5c3a5f334009db9Test

المؤلفون: Amy E. Mitchell, James McGill, Anita Inwood, Evren Etel, Alina Morawska, Grace Kirby, David Coman

المصدر: Child: Care, Health and Development. 46:56-65

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Mothers, Dietary restrictions, Anxiety, Cohort Studies, Poor adherence, 03 medical and health sciences, 0302 clinical medicine, Treatment quality, Quality of life (healthcare), Phenylketonurias, Surveys and Questionnaires, 030225 pediatrics, Developmental and Educational Psychology, Humans, Medicine, 0501 psychology and cognitive sciences, Child, Parenting, business.industry, 05 social sciences, Australia, Public Health, Environmental and Occupational Health, nutritional and metabolic diseases, Parenting stress, humanities, Psychosocial Functioning, Child, Preschool, Metabolic control analysis, Pediatrics, Perinatology and Child Health, Guilt, Quality of Life, Female, medicine.symptom, business, Psychosocial, Stress, Psychological, 050104 developmental & child psychology, Clinical psychology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eef1892cd31f739b0d5c0f207eceacedTest
https://doi.org/10.1111/cch.12727Test

المؤلفون: Ferreira C. R., Rahman S., Keller M., Zschocke J., ICIMD Advisory Group: Jose Abdenur, Houda Ali, Rafael Artuch, Andrea Ballabio, Bruce Barshop, Matthias Baumgartner, Enrico Silvio Bertini, Nenad Blau, Valerio Carelli, Christopher Carroll, Patrick F Chinnery, John Christodoulou, Veronica Cornejo, Niklas Darin, Terry Derks, Daria Diodato, Carlo Dionisi-Vici, John A Duley, Toshi Fukao, Ángeles García-Cazorla, Roberto Giugliani, Amy Goldstein, Georg Hoffmann, Rita Horvath, Isabel Ibarra, Anita Inwood, Jaak Jaeken, Cecilia Jimenez-Mallebrera, Amel Karaa, Thomas Klopstock, Stefan Kölker, Cornelia Kornblum, Viktor Kožich, Costanza Lamperti, Nils-Göran Larsson, Aida Lemes, Barry Lewis, Michelangelo Mancuso, Robert McFarland, Fanny Mochel, Julio Montoya, Eva Morava, Karin Naess, Torayuki Okuyama, Annie Olry, Veronique Paquis-Flucklinger, Sumit Parikh, Marc Patterson, Ceila Pérez de Ferrán, Verena Peters, Holger Prokisch, Ann Saada, Gajja S Salomons, Jean-Marie Saudubray, Maurizio Scarpa, Ulrike Schara-Schmidt, Manuel Schiff, Serenella Servidei, Jan Smeitink, Anu Suomalainen, Trine Tangeraas, Robert W Taylor, Ines Thiele, David Thorburn, Johan Van Hove, Ans T Van der Ploeg, Clara Van Karnebeek, Gepke Visser, Jerry Vockley, Ronald Wanders, Dianne Webster, Anna Wedell, Veronica Wiley, Anna Wredenberg, Massimo Zeviani

المساهمون: C. R., Ferreira, S., Rahman, M., Keller, J., Zschocke, Advisory Group: Jose Abdenur, Icimd, Ali, Houda, Artuch, Rafael, Ballabio, Andrea, Barshop, Bruce, Baumgartner, Matthia, Silvio Bertini, Enrico, Blau, Nenad, Carelli, Valerio, Carroll, Christopher, F Chinnery, Patrick, Christodoulou, John, Cornejo, Veronica, Darin, Nikla, Derks, Terry, Diodato, Daria, Dionisi-Vici, Carlo, A Duley, John, Fukao, Toshi, García-Cazorla, Ángele, Giugliani, Roberto, Goldstein, Amy, Hoffmann, Georg, Horvath, Rita, Ibarra, Isabel, Inwood, Anita, Jaeken, Jaak, Jimenez-Mallebrera, Cecilia, Karaa, Amel, Klopstock, Thoma, Kölker, Stefan, Kornblum, Cornelia, Kožich, Viktor, Lamperti, Costanza, Larsson, Nils-Göran, Lemes, Aida, Lewis, Barry, Mancuso, Michelangelo, Mcfarland, Robert, Mochel, Fanny, Montoya, Julio, Morava, Eva, Naess, Karin, Okuyama, Torayuki, Olry, Annie, Paquis-Flucklinger, Veronique, Parikh, Sumit, Patterson, Marc, Pérez de Ferrán, Ceila, Peters, Verena, Prokisch, Holger, Saada, Ann, S Salomons, Gajja, Saudubray, Jean-Marie, Scarpa, Maurizio, Schara-Schmidt, Ulrike, Schiff, Manuel, Servidei, Serenella, Smeitink, Jan, Suomalainen, Anu, Tangeraas, Trine, W Taylor, Robert, Thiele, Ine, Thorburn, David, Van Hove, Johan, T Van der Ploeg, An, Van Karnebeek, Clara, Visser, Gepke, Vockley, Jerry, Wanders, Ronald, Webster, Dianne, Wedell, Anna, Wiley, Veronica, Wredenberg, Anna, Zeviani, Massimo

مصطلحات موضوعية: classification, ICIMD, inherited metabolic disorder, ontology

العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000614037700017; volume:44; issue:1; firstpage:164; lastpage:177; numberofpages:14; journal:JOURNAL OF INHERITED METABOLIC DISEASE; http://hdl.handle.net/11588/854605Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85101896221

الإتاحة: https://doi.org/10.1002/jimd.12348Test
http://hdl.handle.net/11588/854605Test

المؤلفون: Amy E. Mitchell, Anita Inwood, James McGill, Grace Kirby, David Coman, Alina Morawska

المصدر: Journal of pediatric psychology. 46(2)

مصطلحات موضوعية: Parents, 050103 clinical psychology, Phenylketonurias, Child Behavior, Blood phenylalanine, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, Quality of life, law, Intervention (counseling), Developmental and Educational Psychology, medicine, Humans, 0501 psychology and cognitive sciences, Attrition, Child, Parenting, business.industry, 05 social sciences, Parenting stress, medicine.disease, Child, Preschool, Pediatrics, Perinatology and Child Health, Quality of Life, business, 030217 neurology & neurosurgery, Clinical psychology, Parent satisfaction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf80b18835f750c47feb0688d794c5a1Test
https://pubmed.ncbi.nlm.nih.gov/33296470Test

المؤلفون: Shanti Balasubramaniam, David Ketteridge, Penny Owens, Christine Ly, Melanie Wong, Jim McGill, Anita Inwood, Carolyn Ellaway, Kaustuv Bhattacharya, Joy Lee, Heidi Peters, Kevin J. Murray

المصدر: Journal of Inborn Errors of Metabolism and Screening v.8 2020
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 8, Article number: e20200001, Published: 08 MAY 2020
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)

مصطلحات موضوعية: safety, Medicine (General), medicine.medical_specialty, Vital capacity, Endocrinology, Diabetes and Metabolism, efficacy, Pulmonary function testing, chemistry.chemical_compound, R5-920, Elosulfase alfa, Quality of life, Internal medicine, medicine, Adverse effect, Genetics (clinical), Creatinine, business.industry, Discontinuation, mucopolysaccharidosis IVA, chemistry, Tolerability, elosulfase alfa, Pediatrics, Perinatology and Child Health, business, Morquio A syndrome, enzyme replacement therapy

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17f1d0a25a98e8d3889236c04f2387a4Test
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100303Test

المؤلفون: Sinje Geuer, Udo F. H. Engelke, John Cardinal, James McGill, James Pitt, Hans R. Waterham, Janet Koster, John Christodoulou, Anita Inwood, David Coman, Barbra Hallinan, Lisenka E.L.M. Vissers, Sarah Hopkins, Larry Sweetman, Roxanna Hauck, T. Andrew Burrow, Lisa G. Riley, Christine Gurnsey, Ron A. Wevers, Michael Kwint

المساهمون: Laboratory Genetic Metabolic Diseases, AGEM - Inborn errors of metabolism

المصدر: American journal of human genetics, 103(1), 125-130. Cell Press
American Journal of Human Genetics, 103, 1, pp. 125-130
American Journal of Human Genetics, 103, 125-130

مصطلحات موضوعية: Male, 0301 basic medicine, RNA Splicing, Biology, 03 medical and health sciences, chemistry.chemical_compound, Squalene, All institutes and research themes of the Radboud University Medical Center, Report, Exome Sequencing, Genetics, medicine, Humans, Child, Promoter Regions, Genetic, Enhancer, Genetics (clinical), Exome sequencing, Farnesyl-diphosphate farnesyltransferase, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], ATP synthase, Cholesterol, Infant, Zaragozic acid, medicine.disease, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Musculoskeletal Abnormalities, Smith-Lemli-Opitz Syndrome, Enhancer Elements, Genetic, Farnesyl-Diphosphate Farnesyltransferase, 030104 developmental biology, chemistry, Biochemistry, Smith–Lemli–Opitz syndrome, Child, Preschool, biology.protein, Female, lipids (amino acids, peptides, and proteins)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f08d95df8c9a8b78a8aa55dd91fa106dTest
https://pure.amc.nl/en/publications/squalene-synthase-deficiency-clinical-biochemical-and-molecular-characterization-of-a-defect-in-cholesterol-biosynthesisTest(b584ad9a-21ee-453c-8138-6bb2a2566d74).html