المؤلفون: Rebecca Halligan, Fiona J. White, Bernd Schwahn, Karolina M. Stepien, Nazreen Kamarus Jaman, Mel McSweeney, Steve Kitchen, Joanna Gribben, Charlotte Dawson, Katherine Lewis, David Cregeen, Helen Mundy, Saikat Santra

المصدر: JIMD Reports, Vol 59, Iss 1, Pp 52-59 (2021)

مصطلحات موضوعية: 1,5‐anhydroglucitol‐6‐phosphate, genotype, glycogen storage disease type Ib, liver transplantation, neutropaenia, neutrophil dysfunction, 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/90f760d60ce44f528516665b5bb177a9

المؤلفون: Anne Daly, Sarah Adam, Heather Allen, Jane Ash, Clare Dale, Marjorie Dixon, Carolyn Dunlop, Charlotte Ellerton, Sharon Evans, Sarah Firman, Suzanne Ford, Francine Freedman, Joanna Gribben, Sara Howe, Farzana Khan, Joy McDonald, Nicola McStravick, Patty Nguyen, Natalia Oxley, Rachel Skeath, Emma Simpson, Allyson Terry, Alison Woodall, Lucy White, Anita MacDonald

المصدر: Nutrients, Vol 14, Iss 24, p 5202 (2022)

مصطلحات موضوعية: tyrosinaemia type I, II, III, dietary treatment, protein, tyrosine, phenylalanine, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6643/14/24/5202; https://doaj.org/toc/2072-6643

URL الوصول: https://doaj.org/article/9e18d92ae911412b8f28ec9f2a579c62

المؤلفون: Maria Inês Gama, Sarah Adam, Sandra Adams, Heather Allen, Catherine Ashmore, Sarah Bailey, Barbara Cochrane, Clare Dale, Anne Daly, Giana De Sousa, Sarah Donald, Carolyn Dunlop, Charlotte Ellerton, Sharon Evans, Sarah Firman, Suzanne Ford, Francine Freedman, Moira French, Lisa Gaff, Joanna Gribben, Anne Grimsley, Ide Herlihy, Melanie Hill, Farzana Khan, Nicola McStravick, Chloe Millington, Nicola Moran, Camille Newby, Patty Nguyen, Janet Purves, Alex Pinto, Júlio César Rocha, Rachel Skeath, Amy Skelton, Simon Tapley, Alison Woodall, Carla Young, Anita MacDonald

المصدر: Nutrients, Vol 14, Iss 23, p 4987 (2022)

مصطلحات موضوعية: Phenylketonuria, phenylalanine, protein, sapropterin, national consensus, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6643/14/23/4987; https://doaj.org/toc/2072-6643

URL الوصول: https://doaj.org/article/d155bdd26e7841369a35eb07d8e3785c

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: Georgina Wood, Alex Pinto, Sharon Evans, Anne Daly, Sandra Adams, Susie Costelloe, Joanna Gribben, Charlotte Ellerton, Anita Emm, Sarah Firman, Suzanne Ford, Moira French, Lisa Gaff, Emily Giuliano, Melanie Hill, Inderdip Hunjan, Camille Newby, Allison Mackenzie, Rachel Pereira, Celine Prescott, Louise Robertson, Heidi Seabert, Rachel Skeath, Simon Tapley, Allyson Terry, Alison Tooke, Karen van Wyk, Fiona J. White, Lucy White, Alison Woodall, Júlio César Rocha, Anita MacDonald

المصدر: Nutrients, Vol 13, Iss 11, p 3977 (2021)

مصطلحات موضوعية: special low protein foods, phenylketonuria, England, prescribing patterns, costs, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6643/13/11/3977; https://doaj.org/toc/2072-6643

URL الوصول: https://doaj.org/article/6e7a8d21eab944f4a506b4712f9b9a0b

المؤلفون: Alex Pinto, Catherine Ashmore, Spyros Batzios, Anne Daly, Charlotte Dawson, Marjorie Dixon, Sharon Evans, Diane Green, Joanna Gribben, Inderdip Hunjan, Elisabeth Jameson, Camille Newby, Germaine Pierre, Sanjay Rajwal, Louise Robertson, Si Santra, Mark Sharrard, Roshni Vara, Lucy White, Gisela Wilcox, Ozlem Yilmaz, Anita MacDonald

المصدر: Nutrients, Vol 12, Iss 11, p 3313 (2020)

مصطلحات موضوعية: citrin deficiency, NICCD, FTTDCD, outcomes, clinical status, dietary management, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6643/12/11/3313; https://doaj.org/toc/2072-6643

URL الوصول: https://doaj.org/article/cf173d55e3a841debdf3b7c52027165d

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: Susie Costelloe, Melanie Hill, Karen van Wyk, Sarah Firman, Alison Woodall, Inderdip Hunjan, Camille Newby, Anita MacDonald, Alison Tooke, Charlotte Ellerton, Júlio César Rocha, Rachel Pereira, Heidi Seabert, F.J. White, Anita Emm, Alex Pinto, Simon Tapley, Rachel Skeath, Allison Mackenzie, Joanna Gribben, Lisa Gaff, A. Terry, Louise Robertson, Anne Daly, Lucy White, Suzanne Ford, Celine Prescott, Sharon Evans, Georgina Wood, Moira French, Sandra Adams, Emily Giuliano

المساهمون: Wood, Georgina [0000-0002-8673-4368], Evans, Sharon [0000-0002-7654-3621], Daly, Anne [0000-0003-2579-8699], White, Fiona J [0000-0003-4936-1029], Rocha, Júlio César [0000-0002-4977-8345], Apollo - University of Cambridge Repository

المصدر: Nutrients
Volume 13
Issue 11
Nutrients, Vol 13, Iss 3977, p 3977 (2021)

مصطلحات موضوعية: medicine.medical_specialty, Low protein, phenylketonuria, prescribing patterns, costs, Guidelines as Topic, Article, State Medicine, special low protein foods, Food Labeling, Electronic prescribing, Phenylketonurias, Diet, Protein-Restricted, Medicine, Humans, TX341-641, Medical prescription, Practice Patterns, Physicians', Activity-based costing, Service (business), Foods, Specialized, Nutrition and Dietetics, Nutrition. Foods and food supply, business.industry, National health service, Dietary treatment, England, Family medicine, Costs and Cost Analysis, Dietary Proteins, business, Food Science

وصف الملف: application/pdf; application/zip; text/xml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::758611cbe78ce2a7aef702e34b7fcc2c
http://europepmc.org/articles/PMC8620831

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