المؤلفون: British Inherited Metabolic Diseases Group (BIMDG) Dietitians Group, Sharon Evans, Suzanne Ford, Sarah Adam, Sandra Adams, Jane Ash, Catherine Ashmore, Gillian Caine, Rachel Carruthers, Sarah Cawtherley, Satnam Chahal, Anne Clark, Barbara Cochrane, Anne Daly, Karen Dines, Marjorie Dixon, Carolyn Dunlop, Charlotte Ellerton, Moira French, Lisa Gaff, Cerys Gingell, Diane Green, Joanna Gribben, Anne Grimsley, Paula Hallam, Una Hendroff, Melanie Hill, Rachel Hoban, Sarah Howe, Inderdip Hunjan, Kit Kaalund, Eimear Kelleher, Farzana Khan, Steve Kitchen, Karen Lang, Sharan Lowry, Jo Males, Georgina Martin, Nicola McStravick, Avril Micciche, Camille Newby, Claire Nicol, Rachel Pereira, Louise Robertson, Kathleen Ross, Emma Simpson, Kath Singleton, Rachel Skeath, Jacqueline Stafford, Allyson Terry, Ruth Thom, Alison Tooke, Karen vanWyk, Fiona White, Lucy White, Anita MacDonald

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-11 (2019)

مصطلحات موضوعية: Phenylketonuria (PKU), Delphi method, Food labelling, Consensus, Phenylalanine exchanges, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0950-z; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/cfce5ce9b749442bb1e426eafa5b982a

المؤلفون: Sharon Evans, Sarah Adam, Sandra Adams, Heather Allen, Catherine Ashmore, Sarah Bailey, Janette Banks, Harriet Churchill, Barbara Cochrane, Jennifer Cook, Clare Dale, Anne Daly, Marjorie Dixon, Carolyn Dunlop, Charlotte Ellerton, Anita Emm, Sarah Firman, Suzanne Ford, Moira French, Joanna Gribben, Anne Grimsley, Ide Herlihy, Melanie Hill, Shirley Judd, Karen Lang, Jo Males, Joy McDonald, Nicola McStravick, Chloe Millington, Camille Newby, Catharine Noble, Rachel Pereira, Alex Pinto, Louise Robertson, Abigail Robotham, Kathleen Ross, Kath Singleton, Rachel Skeath, Allyson Terry, Karen Van Wyk, Fiona White, Lucy White, Jo Wildgoose, Alison Woodall, Anita MacDonald

المصدر: Nutrients, Vol 12, Iss 8, p 2205 (2020)

مصطلحات موضوعية: phenylketonuria (PKU), consensus, Delphi method, food labelling, phenylalanine, Phe, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6643/12/8/2205; https://doaj.org/toc/2072-6643

URL الوصول: https://doaj.org/article/dec29b246a524cc9914c12fdb3e84297

المؤلفون: Rachel Skeath, Annemiek M. J. van Wegberg, Kit Kaalund Hansen, Isidro Vitoria, Sandrine Dubois, Júlio César Rocha, Helle Vestergaard, Alice Dianin, François Feillet, Giorgia Gallo, Karen Corthouts, Sandrine Le Verge, Camille Jankowski, Anita MacDonald, Kathleen Ross, Irene Kok, Sandra Bollhalder, Linn Helene Stolen, Heidi Chan, F.J. White, Agnieszka Kowalik, Alison Tooke, David Cassiman, Foekje de Boer, Amaya Belanger-Quintana, Ana Faria, Hazel Rogozinski, Lucy White, Marleen van Driessche, Alex Pinto, Heidi Zweers, M.F. Almeida, R. Lilje, Gudrun Elise Kahrs, Margreet van Rijn, Carla Vasconcelos, C. Timmer, Lyndsey Tomlinson, Cornelia Maddalon, A. Terry, Kristel Vande Kerckhove, Esther van Dam, Ilana Jones, Elisabeth Sjoqvist, U. Meyer, Liesbeth van der Ploeg, Ulrike Och, Marjorie Dixon, Ilaria Fasan, Diana Webster, Dorine T.A.M. van den Hurk, Joanna Gribben, Helena Champion, Catherine Jouault, Kath Singleton, Katharina Dokoupil, Anne Daly, Jaime Dalmau, Elisabeth Favre, Doris Mayr, Silvia Maria Bernabei, An de Meyer, François Eyskens, A. Liguori, Catherine Laguerre, Nienke Ter Horst, Carmen Rohde, Sharon Evans, An Desloovere, Corinne De Laet, Andrea Schlune, Martine Robert, M. Assoun, Anna Fekete, Isabelle Saruggia, Cerys Gingell, Renske Janssen-Regelink, A. Micciche

المساهمون: MUMC+: TPZ Dietetiek (9), RS: FHML non-thematic output

المصدر: Journal of Pediatric Endocrinology & Metabolism, 33, 147-155
Journal of Pediatric Endocrinology & Metabolism, 33, 1, pp. 147-155
Journal of pediatric endocrinology and metabolism
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Journal of pediatric endocrinology & metabolism, 33(1), 147-155. Walter de Gruyter GmbH
Journal of Pediatric Endocrinology & Metabolism, 33(1), 147-155. De Gruyter

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Methylmalonic acid, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], 030105 genetics & heredity, chemistry.chemical_compound, 0302 clinical medicine, Endocrinology, Surveys and Questionnaires, Propionic acidemia, Child, propionic acidemia, Nutritional Support, precursor-free amino acids, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Gastrostomy, methylmalonic acidaemia, Europe, Child, Preschool, Precursor-free amino acids, acidurias, Female, Dietary Proteins, methylmalonic acidaemia, natural protein, precursor-free amino acids, protein-restricted diet, Methylmalonic acidaemia, medicine.medical_specialty, Adolescent, growth, organic acidemias, protein-restricted diet, World health, 03 medical and health sciences, medicine, MANAGEMENT, Humans, Vitamin B12, Medical prescription, Amino Acid Metabolism, Inborn Errors, business.industry, Infant, Newborn, Dietary management, Infant, Natural protein, medicine.disease, Cross-Sectional Studies, chemistry, Pediatrics, Perinatology and Child Health, natural protein, Protein-restricted diet, Human medicine, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecda01fc69de777edfdb2c12a7795396
https://doi.org/10.1515/jpem-2019-0277

المؤلفون: David Cassiman, M.F. Almeida, R. Lilje, Amaya Belanger-Quintana, L. Tomlinson, A.M.J. van Wegberg, U. Meyer, E. van Dam, A. Kowalik, S. Bollhalder, M. Van Driessche, C. Jouault, Clara Vasconcelos, C. de Laet, K. Vande Kerckhove, Júlio César Rocha, Cornelia Maddalon, A. Faria, Lee W. White, A. De Meyer, Kath Singleton, F. Eyskens, L. van der Ploeg, T.A.M. van den Hurk, E. Sjoqvist, A. Terry, D. Mayr, M. van Rijn, Jaime Dalmau, Marjorie Dixon, A. Micciche, Carmen Rohde, Alison Tooke, Anita MacDonald, Kathleen Ross, S.M. Bernabei, I.L. Kok, C. Timmer, R. Janssen-Regelink, Isidro Vitoria, S. Le Verge, G. Gallo, A. Dianin, H. Champion, H. Chan, Sharon Evans, An Desloovere, A. van Teeffelen-Heithoff, François Feillet, Sandrine Dubois, I. Fasan, N. Horst, H. Vestergaard, Joanna Gribben, A. Fekete, M. Assoun, F. de Boer, D. Webster, Cerys Gingell, C. Laguerre, I. Jones, Gudrun Elise Kahrs, H. Zweers, K. Kaalund-Hansen, Linn Helene Stolen, I. Saruggia, H. Rogozinski, Martine Robert, Anne Daly, F.J. White, Alex Pinto, K. Dokoupil, E. Favre, Andrea Schlune, C. Jankowski

المساهمون: MUMC+: TPZ Dietetiek (9), RS: FHML non-thematic output, Endocrinology

المصدر: Molecular Genetics and Metabolism Reports
Molecular Genetics And Metabolism Reports
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 16-22 (2017)
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Molecular Genetics and Metabolism Reports, 12, 16-22. Elsevier Science
Molecular Genetics and Metabolism Reports, 12, 16-22
Molecular genetics and metabolism reports, 12, 16-22. Elsevier BV
Molecular Genetics and Metabolism Reports, 12
Molecular Genetics and Metabolism Reports, 12, pp. 16-22
Molecular genetics and metabolism reports, 12, 16-22. ELSEVIER SCIENCE BV

مصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, METABOLIC DECOMPENSATION, PHENOTYPIC SPECTRUM, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], GLYCINE THERAPY, 030105 genetics & heredity, MASS, Leucine free l-amino acids, Leucine free L-amino acids, ORGANIC ACIDURIAS, 03 medical and health sciences, Endocrinology, Age groups, Leucine, Internal medicine, Genetics, LEUCINE METABOLISM, MANAGEMENT, Medicine, Restricted diet, Molecular Biology, lcsh:QH301-705.5, Total protein, lcsh:R5-920, business.industry, Dietary management, Protein restricted diet, A protein, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Généralités, GENETIC-DEFECT, Supplement protein, Natural protein, Protein intake, Isovaleric acidemia, Isovaleric Acidemia, L-CARNITINE, lcsh:Biology (General), PROTEIN-SYNTHESIS, Human medicine, sense organs, business, lcsh:Medicine (General), Research Paper

وصف الملف: pdf; application/pdf; 1 full-text file(s): application/pdf; Electronic-eCollection

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cff1d98b1277f84b44b2647be17d8b8
https://doi.org/10.1016/j.ymgmr.2017.02.001

المؤلفون: Jennifer Cook, Joanna Gribben, Karen Lang, S. Bailey, Catharine Noble, Heather Allen, Clare Dale, Ide Herlihy, Kath Singleton, Sarah Firman, Joy McDonald, Barbara Cochrane, Rachel Skeath, Harriet Churchill, Lucy White, Rachel Pereira, Carolyn Dunlop, Marjorie Dixon, Anita MacDonald, Kathleen Ross, F.J. White, Melanie Hill, Abigail Robotham, Camille Newby, Alex Pinto, A. Terry, Moira French, J. Wildgoose, Suzanne Ford, Anita Emm, Nicola McStravick, Sarah Adam, Charlotte Ellerton, Shirley Judd, Louise Robertson, Anne Daly, Alison Woodall, Sharon Evans, Anne Grimsley, Karen van Wyk, Jo Males, Chloe Millington, Catherine Ashmore, Janette Banks, Sandra Adams

المصدر: Nutrients
Volume 12
Issue 8
Nutrients, Vol 12, Iss 2205, p 2205 (2020)

مصطلحات موضوعية: Phe, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Delphi Technique, Dietetics, phenylalanine, Low phenylalanine diet, Delphi method, lcsh:TX341-641, Phenylalanine, phenylketonuria (PKU), 030105 genetics & heredity, exchanges, Article, Food group, 03 medical and health sciences, 0302 clinical medicine, Food Labeling, Phenylketonurias, Diet, Protein-Restricted, Humans, Medicine, Food science, Phenylketonuria (PKU), Nutrition and Dietetics, Health professionals, business.industry, Food protein, Dietary management, nutritional and metabolic diseases, food and beverages, medicine.disease, food labelling, United Kingdom, consensus, Dietary Proteins, Inherited metabolic disease, protein, business, lcsh:Nutrition. Foods and food supply, 030217 neurology & neurosurgery, Food Science

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d007d6ff1f44b437423cbcd4815ffb3a
https://doi.org/10.3390/nu12082205

المؤلفون: Karen Corthouts, P. Portnoi, M. Heddrich-Ellerbrok, Isidro Vitoria, U. Meyer, S.M. Bernabei, A. Micciche, M. Robert, Louise Robertson, Carina Heidenborg, S. Dawson, Alessandro P. Burlina, Suzanne Ford, S. Rosenbaum-Fabian, K. Luyten, S. Boocock, S. Schultz, A. van Teeffelen-Heithoff, T. Coote, K. Sahm, Katharina Dokoupil, I. Fasan, J. Wenz, G. Gallo, C. Timmer, C. Ferguson, S. Defourny, M. Diels, Sarah C. Grünert, Kath Singleton, M. Van Driessche, J. Wildgoose, L. Stoelen, L. van der Ploeg, S. Donald, Y. Devlin, M. Forga, M. van Rijn, S. Ripley, E. Sjoqvist, S. Bollhalder, S. Adam, R. Akroyd, Jaime Dalmau, Anita MacDonald, K. Vande Kerckhove, M. Westbrook, H. Zweers, A. De Meyer, E. Müller, Sharon Evans, An Desloovere, C. Voillot, A. Terry, C. Jonkers, S. Thompson, K. Lefebure

المساهمون: Extramural researchers, Endocrinology

المصدر: Molecular Genetics and Metabolism, 115(1), 23. Academic Press Inc.
Molecular Genetics and Metabolism, 115, 23-6
Molecular Genetics and Metabolism, 115(1), 23-26. ACADEMIC PRESS INC ELSEVIER SCIENCE
Molecular genetics and metabolism
MOLECULAR GENETICS AND METABOLISM
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Molecular genetics and metabolism, 115(1), 23-26. Academic Press Inc.
Molecular Genetics and Metabolism, 115, 1, pp. 23-6

مصطلحات موضوعية: Endocrinology, Diabetes and Metabolism, Galactose-1-phosphate, Lactose, PHENOTYPE, Biochemistry, chemistry.chemical_compound, Endocrinology, Galactosides, Surveys and Questionnaires, Vegetables, galactose restriction, vegetable, Food science, comparative study, questionnaire, Adult, dietitian, Chemistry, Galactosemia, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], clinical trial, health survey, priority journal, disease severity, dietetics, CLASSICAL GALACTOSEMIA, Galactosaemia, diet restriction, Adult, Galactosemias, Monitoring, Diet therapy, food processing, Genetics, medicine, follow up, Humans, controlled study, human, Biology, Molecular Biology, galactosemia, Adult patients, questionnaire, food, Dietary management, Galactose, fruit, medicine.disease, major clinical study, Diet, multicenter study, diet therapy, Fruits and vegetables, Human medicine, dietary intake

وصف الملف: image/pdf; pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7596e365883545a329953f3d1d84908
https://doi.org/10.1016/j.ymgme.2015.03.008

المؤلفون: A. Micciche, Lucy White, D. Mayr, A. Kowalik, C. Jouault, Linn Helene Stolen, C. de Laet, E. Favre, Jaime Dalmau, A. Dianin, Júlio César Rocha, Isidro Vitoria, R. Janssen-Regelink, Anita MacDonald, Kathleen Ross, A. Fekete, S.M. Bernabei, N.M. Ter Horst, I. Jones, M. Assoun, F. de Boer, A. Terry, L. Tomlinson, C. Timmer, D. Webster, Marjorie Dixon, H. Rogozinski, K. Vande Kerckhove, Cerys Gingell, I.L. Kok, Anne Daly, C. Laguerre, David Cassiman, Cornelia Maddalon, Amaya Belanger-Quintana, E. van Dam, E. Sjoqvist, Gudrun Elise Kahrs, S. Bollhalder, F. Eyskens, R. Skeath, G. Gallo, Ulrike Och, Alison Tooke, A.M.J. van Wegberg, M. Van Driessche, M. van Rijn, Joanna Gribben, U. Meyer, I. Fasan, H. Champion, M.F. Almeida, R. Lilje, A. Faria, Kath Singleton, Martine Robert, T.A.M. van den Hurk, L. van der Ploeg, H. Chan, K. Dokoupil, C. Jankowski, H. Zweers, I. Saruggia, Andrea Schlune, A. De Meyer, Carmen Rohde, S. Le Verge, K. Kaalund Hansen, Sharon Evans, An Desloovere, François Feillet, Clara Vasconcelos, Sandrine Dubois, H. Vestergaard, F.J. White, Alex Pinto

المساهمون: Endocrinology, MUMC+: TPZ Dietetiek (9), RS: FHML non-thematic output

المصدر: Molecular Genetics And Metabolism Reports
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Molecular Genetics and Metabolism Reports, 13, pp. 83-89
Molecular Genetics and Metabolism Reports, 13
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 83-89 (2017)
MOLECULAR GENETICS AND METABOLISM REPORTS
Molecular genetics and metabolism reports, 13, 83-89. ELSEVIER SCIENCE BV
Molecular Genetics and Metabolism Reports, 13, 83-89
Molecular genetics and metabolism reports, 13, 83-89. Elsevier BV
Molecular Genetics and Metabolism Reports, 13, 83-89. Elsevier Science

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, DISORDERS, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], 030105 genetics & heredity, Controlled studies, METABOLISM, ORGANIC ACIDURIAS, TERM, Propionic acidemia, Protein-Restricted Diets, 03 medical and health sciences, Endocrinology, All institutes and research themes of the Radboud University Medical Center, Age groups, Internal medicine, Medicine and Health Sciences, Genetics, MANAGEMENT, Medicine, Protein restriction, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), lcsh:QH301-705.5, Molecular Biology, Total protein, lcsh:R5-920, Health professionals, business.industry, Dietary management, Protein restricted diet, Biology and Life Sciences, Généralités, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], Natural protein, medicine.disease, DEFICIENCY, lcsh:Biology (General), Biochemistry, Precursor-free amino acids, Human medicine, ENTEROPATHICA-LIKE SYNDROME, lcsh:Medicine (General), business, Research Paper

وصف الملف: application/pdf; 1 full-text file(s): application/pdf; pdf; Electronic-eCollection

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bd7748a8196339003952a468845be38
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=7198