المؤلفون: Nataliya Yuskiv, Beth K. Potter, Sylvia Stockler, Keiko Ueda, Alette Giezen, Barbara Cheng, Erica Langley, Suzanne Ratko, Valerie Austin, Maggie Chapman, Pranesh Chakraborty, Jean Paul Collet, Amy Pender, In collaboration with the Canadian Inherited Metabolic Diseases Research Network (CIMDRN)

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-13 (2019)

مصطلحات موضوعية: PAH deficiency, Phenylketonuria, PKU, Management practices, Nutrition management, PAH deficiency practice guidelines, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0978-0; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/1b98183cdc9642988c4908da010160cd

المؤلفون: Barbara Cheng, Alette Giezen, Keiko Ueda, Sylvia Stockler-Ipsiroglu, Ramona Salvarinova, Rajavel Elango, Abrar Turki

المصدر: The Journal of Nutrition. 147:211-217

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Adolescent, Phenylalanine hydroxylase, Phenylketonurias, Egg protein, Medicine (miscellaneous), Phenylalanine, Urine, 030105 genetics & heredity, 03 medical and health sciences, Leucine, Internal medicine, medicine, Humans, Nutritional Physiological Phenomena, Resting energy expenditure, Amino Acids, Child, chemistry.chemical_classification, Carbon Isotopes, Nutrition and Dietetics, biology, Nutritional Requirements, Amino acid, Endocrinology, Biochemistry, chemistry, Isotope Labeling, biology.protein, Female, Dietary Proteins, Oxidation-Reduction

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acd4264e8b783b1fddc58d1e67c79a2d
https://doi.org/10.3945/jn.116.240218

المؤلفون: Barbara Cheng, Gayathri Murthy, Abrar Turki, Sylvia Stockler-Ipsiroglu, Rajavel Elango, Keiko Ueda, Alette Giezen

المصدر: Molecular Genetics and Metabolism. 115:78-83

مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Phenylalanine hydroxylase, Phenylalanine, Endocrinology, Diabetes and Metabolism, Biochemistry, Endocrinology, Hyperphenylalaninemia, Phenylketonurias, Internal medicine, Genetics, medicine, Humans, Tyrosine, Child, Molecular Biology, Breath test, Carbon Isotopes, medicine.diagnostic_test, biology, Chemistry, Phenylalanine Hydroxylase, Tetrahydrobiopterin, Carbon Dioxide, medicine.disease, Biopterin, Breath Tests, Liver, PAH activity, biology.protein, Female, Phenylalanine metabolism, Molecular Chaperones, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1169111fbdbef73359e078363d2dec6b
https://doi.org/10.1016/j.ymgme.2015.04.005

المؤلفون: Barbara Cheng, Alette Giezen, Keiko Ueda, Sylvia Stockler-Ipsiroglu, Delia Apatean, Nataliya Yuskiv, Ramona Salvarinova, Gloria Ho, Yolanda Lillquist

المصدر: Molecular Genetics and Metabolism. 114(3):409-414

مصطلحات موضوعية: Male, medicine.medical_specialty, Time Factors, Phenylalanine hydroxylase, Adolescent, Phenylalanine, Endocrinology, Diabetes and Metabolism, Blood phenylalanine, Recommended Dietary Allowances, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Hyperphenylalaninemia, Endocrinology, 030225 pediatrics, Internal medicine, Phenylketonurias, medicine, Genetics, Humans, Medical nutrition therapy, PAH deficiency, Child, Molecular Biology, 0303 health sciences, biology, business.industry, 030305 genetics & heredity, Infant, Newborn, Infant, Tetrahydrobiopterin, medicine.disease, Biopterin, 3. Good health, Diet, Patient Outcome Assessment, Dietary Reference Intake, Child, Preschool, biology.protein, Female, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eed77b9504312960544e70421f24697a

المؤلفون: Eva Yap-Todos, Hilary Vallance, Alette Giezen, Gabriella Horvath, Sylvia Stockler-Ipsiroglu, Ramona Salvarinova-Zivkovic, Barbara Cheng, Yolanda Lillquist, Carol Hartnett

المصدر: Molecular Genetics and Metabolism. 108:255-258

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Phenylalanine hydroxylase, Phenylalanine, Endocrinology, Diabetes and Metabolism, Treatment outcome, Statistical difference, Blood phenylalanine, Biochemistry, Endocrinology, Hyperphenylalaninemia, Phenylketonurias, Classical phenylketonuria, Genetics, Long term outcomes, Humans, Medicine, Child, Molecular Biology, Retrospective Studies, Retrospective review, biology, business.industry, Infant, medicine.disease, Treatment Outcome, Child, Preschool, biology.protein, Female, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7272877d6a8ae8d1dd2d1e05226a54d4
https://doi.org/10.1016/j.ymgme.2013.01.007

المؤلفون: Keiko Ueda, Gloria Ho, Jeff Joa, Barbara Cheng, Clara D.M. van Karnebeek, Roderick F.A. Houben, Alette Giezen

المساهمون: Other departments

المصدر: Molecular genetics and metabolism, 117(3), 322-327. Academic Press Inc.

مصطلحات موضوعية: Adult, Gerontology, medicine.medical_specialty, Diet therapy, Endocrinology, Diabetes and Metabolism, Dashboard (business), Specialty, 030209 endocrinology & metabolism, Biochemistry, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Endocrinology, 030225 pediatrics, Internal medicine, Health care, medicine, Genetics, Humans, Medical nutrition therapy, Amino Acid Metabolism, Inborn Errors, Molecular Biology, business.industry, Suite, Diet, Metabolic control analysis, Quality of Life, Patient Compliance, business, Software, Diet Therapy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b1250c79f6fcf9868123f11d5b97c28
https://pure.amc.nl/en/publications/metabolic-diet-app-suite-for-inborn-errors-of-amino-acid-metabolism(7699ab62-024a-4779-bb58-add923cf220a).html

المؤلفون: Barbara Cheng, Abrar Turki, Rajavel Elango, Sylvia Stockler, Alette Giezen, Keiko Ueda

المصدر: The FASEB Journal. 29

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Chemistry, nutritional and metabolic diseases, Phenylalanine, Metabolism, medicine.disease, Biochemistry, Endocrinology, Internal medicine, Liver enzyme, Genetics, medicine, Phenylketonuria (PKU), Molecular Biology, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d01977c896d66bf0f243e439145ea631
https://doi.org/10.1096/fasebj.29.1_supplement.742.9

المؤلفون: Anibh M. Das, Nanda Verhoeven, Levinus A. Bok, Alette Giezen, U. Meyer, Renata C. Gallagher, Monique Albersen, Sidney M. Gospe, Clara D.M. van Karnebeek, Hans Hartmann, Barbara Cheng, Sravan Jaggumantri, Curtis R. Coughlin, Barbara Plecko, Sylvia Stockler-Ipsiroglu, Wahla Al-Hertani, Gloria Ho, Peter Baxter, Birgit Assmann, Daniela Buhas, Philippa B. Mills, Eduard A. Struys, Johan Van Hove, Keiko Ueda

المساهمون: Clinical chemistry, NCA - Brain mechanisms in health and disease, Paediatric Pulmonology, Paediatric Metabolic Diseases, ANS - Cellular & Molecular Mechanisms, University of Zurich, Zschocke, Johannes, Gibson, K Michael, Brown, Garry, Morava, Eva, Peters, Verena, van Karnebeek, Clara D M

المصدر: JIMD Reports ISBN: 9783662437506
van Karnebeek, C D, Stockler-Ipsiroglu, S, Jaggumantri, S, Assmann, B, Baxter, P, Bushas, D, Bok, L A, Cheng, B, Coughlin, C R, Das, A M, Giezen, A, Al-Hertani, W, Ho, G, Meyer, U, Mills, P, Plecko, B, Struys, E A, Ueda, K, Albersen, M, Verhoeven, N, Gospe, S M J, Gallagher, R C, Van Hove, J K & Harmann, H 2014, ' Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations ', JIMD Reports, vol. 15, pp. 1-11 . https://doi.org/10.1007/8904_2014_296
JIMD Reports, 15, 1-11. Springer Berlin
JIMD Reports, 47-57
STARTPAGE=47;ENDPAGE=57;TITLE=JIMD Reports

مصطلحات موضوعية: Lysine content, medicine.medical_specialty, Lysine, Maple syrup urine disease, 610 Medicine & health, Express breast milk, 1301 Biochemistry, Genetics and Molecular Biology (miscellaneous), Article, Epilepsy, Internal medicine, Intellectual disability, medicine, Pyridoxine-dependent epilepsy, Psychomotor learning, business.industry, Pipecolic acid, Seizure control, medicine.disease, Adjunct, 2712 Endocrinology, Diabetes and Metabolism, 10036 Medical Clinic, 2724 Internal Medicine, Physical therapy, Observational study, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46a85d938e17e7f7f3bc1c693b927b42
https://doi.org/10.1007/8904_2014_296

المؤلفون: Alette Giezen, Sylvia Stockler, Keiko Ueda, Ramona Salvarinova, Gloria Ho, Hilary Vallance, Barbara Cheng, Clara D.M. van Karnebeek, Graham Sinclair

المصدر: Clinical Biochemistry. 47:149-150

مصطلحات موضوعية: Newborn screening, Pediatrics, medicine.medical_specialty, business.industry, Maple syrup urine disease, Clinical Biochemistry, medicine, General Medicine, medicine.disease, business, Therapeutic monitoring

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0f3a0f4fc76fc012a2662751597f255d
https://doi.org/10.1016/j.clinbiochem.2014.07.075

المؤلفون: Yolanda Lillquist, Delia Apatean, Barbara Cheng, Nataliya Yuskiv, Keiko Ueda, Ramona Salvarinova, Alette Giezen, Sylvia Stockler-Ipsiroglu

المصدر: Clinical Biochemistry. 47:138

مصطلحات موضوعية: business.industry, Hydrochloride, Clinical Biochemistry, Phenylalanine, General Medicine, Blood phenylalanine, Pharmacology, Response to treatment, chemistry.chemical_compound, chemistry, Biochemistry, Medicine, In patient, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::07ce330dc5017d2678c423ae0f1dab66
https://doi.org/10.1016/j.clinbiochem.2014.07.041