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1دورية أكاديمية
المؤلفون: A. Pinto, S. Adams, K. Ahring, H. Allen, M.F. Almeida, D. Garcia-Arenas, N. Arslan, M. Assoun, Y. Atik Altınok, D. Barrio-Carreras, A. Belanger Quintana, S.M. Bernabei, C. Bontemps, F. Boyle, G. Bruni, M. Bueno-Delgado, G. Caine, R. Carvalho, A. Chrobot, K. Chyż, B. Cochrane, C. Correia, K. Corthouts, A. Daly, S. De Leo, A. Desloovere, A. De Meyer, A. De Theux, B. Didycz, M.E. Dijsselhof, K. Dokoupil, J. Drabik, C. Dunlop, W. Eberle-Pelloth, K. Eftring, J. Ekengren, I. Errekalde, S. Evans, A. Foucart, L. Fokkema, L. François, M. French, E. Forssell, C. Gingell, C. Gonçalves, H. Gökmen Özel, A. Grimsley, G. Gugelmo, E. Gyüre, C. Heller, R. Hensler, I. Jardim, C. Joost, M. Jörg-Streller, C. Jouault, A. Jung, M. Kanthe, N. Koç, I.L. Kok, T. Kozanoğlu, B. Kumru, F. Lang, K. Lang, I. Liegeois, A. Liguori, R. Lilje, O. Ļubina, P. Manta-Vogli, D. Mayr, C. Meneses, C. Newby, U. Meyer, S. Mexia, C. Nicol, U. Och, S.M. Olivas, C. Pedrón-Giner, R. Pereira, K. Plutowska-Hoffmann, J. Purves, A. Re Dionigi, K. Reinson, M. Robert, L. Robertson, J.C. Rocha, C. Rohde, S. Rosenbaum-Fabian, A. Rossi, M. Ruiz, J. Saligova, A. Gutiérrez-Sánchez, A. Schlune, K. Schulpis, J. Serrano-Nieto, A. Skarpalezou, R. Skeath, A. Slabbert, K. Straczek, M. Giżewska, A. Terry, R. Thom, A. Tooke, J. Tuokkola, E. van Dam, T.A.M. van den Hurk, E.M.C. van der Ploeg, K. Vande Kerckhove, M. Van Driessche, A.M.J. van Wegberg, K. van Wyk, C. Vasconcelos, V. Velez García, J. Wildgoose, T. Winkler, J. Żółkowska, J. Zuvadelli, A. MacDonald
المصدر: Molecular Genetics and Metabolism Reports, Vol 18, Iss , Pp 39-44 (2019)
مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: A. Pinto, S. Adams, K. Ahring, H. Allen, M.F. Almeida, D. Garcia-Arenas, N. Arslan, M. Assoun, Y. Atik Altınok, D. Barrio-Carreras, A. Belanger Quintana, S.M. Bernabei, C. Bontemps, F. Boyle, G. Bruni, M. Bueno-Delgado, G. Caine, R. Carvalho, A. Chrobot, K. Chyż, B. Cochrane, C. Correia, K. Corthouts, A. Daly, S. De Leo, A. Desloovere, A. De Meyer, A. De Theux, B. Didycz, M.E. Dijsselhof, K. Dokoupil, J. Drabik, C. Dunlop, W. Eberle-Pelloth, K. Eftring, J. Ekengren, I. Errekalde, S. Evans, A. Foucart, L. Fokkema, L. François, M. French, E. Forssell, C. Gingell, C. Gonçalves, H. Gökmen Özel, A. Grimsley, G. Gugelmo, E. Gyüre, C. Heller, R. Hensler, I. Jardim, C. Joost, M. Jörg-Streller, C. Jouault, A. Jung, M. Kanthe, N. Koç, I.L. Kok, T. Kozanoğlu, B. Kumru, F. Lang, K. Lang, I. Liegeois, A. Liguori, R. Lilje, O. Ļubina, P. Manta-Vogli, D. Mayr, C. Meneses, C. Newby, U. Meyer, S. Mexia, C. Nicol, U. Och, S.M. Olivas, C. Pedrón-Giner, R. Pereira, K. Plutowska-Hoffmann, J. Purves, A. Re Dionigi, K. Reinson, M. Robert, L. Robertson, J.C. Rocha, C. Rohde, S. Rosenbaum-Fabian, A. Rossi, M. Ruiz, J. Saligova, A. Gutiérrez-Sánchez, A. Schlune, K. Schulpis, J. Serrano-Nieto, A. Skarpalezou, R. Skeath, A. Slabbert, K. Straczek, M. Giżewska, A. Terry, R. Thom, A. Tooke, J. Tuokkola, E. van Dam, T.A.M. van den Hurk, E.M.C. van der Ploeg, K. Vande Kerckhove, M. Van Driessche, A.M.J. van Wegberg, K. van Wyk, C. Vasconcelos, V. Velez García, J. Wildgoose, T. Winkler, J. Żółkowska, J. Zuvadelli, A. MacDonald
المصدر: Molecular Genetics and Metabolism Reports, Vol 16, Iss , Pp 82-89 (2018)
مصطلحات موضوعية: Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: A. Daly, A. Pinto, S. Evans, M.F. Almeida, M. Assoun, A. Belanger-Quintana, S.M. Bernabei, S. Bollhalder, D. Cassiman, H. Champion, H. Chan, J. Dalmau, F. de Boer, C. de Laet, A. de Meyer, A. Desloovere, A. Dianin, M. Dixon, K. Dokoupil, S. Dubois, F. Eyskens, A. Faria, I. Fasan, E. Favre, F. Feillet, A. Fekete, G. Gallo, C. Gingell, J. Gribben, K. Kaalund Hansen, N.M. Ter Horst, C. Jankowski, R. Janssen-Regelink, I. Jones, C. Jouault, G.E. Kahrs, I.L. Kok, A. Kowalik, C. Laguerre, S. Le Verge, R. Lilje, C. Maddalon, D. Mayr, U. Meyer, A. Micciche, U. Och, M. Robert, J.C. Rocha, H. Rogozinski, C. Rohde, K. Ross, I. Saruggia, A. Schlune, K. Singleton, E. Sjoqvist, R. Skeath, L.H. Stolen, A. Terry, C. Timmer, L. Tomlinson, A. Tooke, K. Vande Kerckhove, E. van Dam, T. van den Hurk, L. van der Ploeg, M. van Driessche, M. van Rijn, A. van Wegberg, C. Vasconcelos, H. Vestergaard, I. Vitoria, D. Webster, F.J. White, L. White, H. Zweers, A. MacDonald
المصدر: Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 83-89 (2017)
مصطلحات موضوعية: Propionic acidemia, Protein restricted diet, Precursor-free amino acids, Natural protein, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource
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المؤلفون: Carlo Dionisi-Vici, Antonella Mosca, Carmen Campana, Raffaella Cusmai, Francesca Cumbo, Benedetta Greco, S.M. Bernabei, Paolo Alfieri, Arianna Maiorana, Stefania Caviglia
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.medical_treatment, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia, Neurodevelopment, Hypoglycemia, medicine.disease_cause, Cognitive outcome, Epilepsy, Glucokinase, medicine, Humans, Pharmacology (medical), Child, Genetics (clinical), business.industry, Research, Neuroglycopenia, General Medicine, Ketogenic diet, medicine.disease, Treatment Outcome, Pharmaceutical Preparations, Pancreatectomy, Mutation, Quality of Life, Medicine, Congenital Hyperinsulinism, business, Energy source, Diet, Ketogenic
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5دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
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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 BVمصطلحات 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
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المؤلفون: S.M. Bernabei, Manila Candusso, Giusy Ranucci, Diego Martinelli, Miriam Rigoldi, A. Liguori, Lidia Monti, Carlo Dionisi-Vici, Paola Francalanci, Rossella Parini, Bianca Maria Goffredo, G. Cotugno, Serena Gasperini
المصدر: Journal of inherited metabolic diseaseREFERENCES. 42(6)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Chronic liver disease, Gastroenterology, Pathogenesis, Cohort Studies, Liver disease, Young Adult, Liver Function Tests, Internal medicine, Genetics, medicine, Humans, Child, Urea Cycle Disorders, Inborn, Genetics (clinical), Aged, business.industry, Liver Diseases, Infant, Middle Aged, medicine.disease, Liver Transplantation, Cross-Sectional Studies, Italy, Liver, Urea cycle, Child, Preschool, Cohort, Chronic Disease, Disease Progression, Female, Liver dysfunction, Metabolic syndrome, business, Argininosuccinate lyase deficiency, Follow-Up Studies
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المؤلفون: Karit Reinson, F. Lang, M.E. Dijsselhof, J. Żółkowska, K. Dokoupil, T.A.M. van den Hurk, W. Eberle-Pelloth, Anita MacDonald, Carolyn Dunlop, María A. Ruiz, D. Barrio-Carreras, T. Kozanoğlu, K. Vande Kerckhove, I. Jardim, Andrea Schlune, L. François, J. Wildgoose, C. Correia, A. Re Dionigi, A. De Theux, Bozena Didycz, S. De Leo, A. Skarpalezou, P. Manta-Vogli, K. Straczek, K. Chyż, A. Chrobot, H. Gokmen Ozel, Clara Vasconcelos, Maria Gizewska, Alex Pinto, Karen Corthouts, V. Velez García, M. Jörg-Streller, A. Belanger Quintana, C. Meneses, Barbara Cochrane, M.F. Almeida, K. Schulpis, C. Pedrón-Giner, R. Lilje, A. Grimsley, A.M.J. van Wegberg, T. Winkler, R. Hensler, Júlio César Rocha, G. Bruni, Louise Robertson, K. Plutowska-Hoffmann, M. Bueno-Delgado, N. Koç, Anne Daly, L. Fokkema, R. Pereira, K. Ahring, D. Garcia-Arenas, Andreas Jung, Martine Robert, S.M. Olivas, J. Serrano-Nieto, J. Saligova, S.M. Bernabei, Ulrike Och, E. Forssell, Jetta Tuokkola, R. Thom, I. Liegeois, J. Ekengren, C. Jouault, A. Gutiérrez-Sánchez, K. Lang, Camille Newby, Nur Arslan, U. Meyer, C. Joost, Moira French, C. Bontemps, H. Allen, M. Kanthe, Juri Zuvadelli, E. van Dam, A. Foucart, M. Van Driessche, I.L. Kok, A. De Meyer, J. Drabik, Carmen Rohde, Rachel Skeath, Sharon Evans, An Desloovere, C. Gingell, E.M.C. van der Ploeg, D. Mayr, E. Gyüre, Y. Atik Altınok, B. Kumru, O. Ļubina, A. Slabbert, Stefanie Rosenbaum-Fabian, G. Gugelmo, Claire Nicol, G. Caine, I. Errekalde, A. Liguori, Sandra Adams, A. Rossi, A. Tooke, R. Carvalho, J. Purves, C. Heller, M. Assoun, Carolina Gonçalves, K. Eftring, F. Boyle, A. Terry, S. Mexia, K. van Wyk
المساهمون: Ege Üniversitesi, HUS Children and Adolescents, Clinicum, University of Helsinki, HUS Internal Medicine and Rehabilitation, Children's Hospital, MUMC+: TPZ Dietetiek (9), RS: FHML non-thematic output, UCL - (SLuc) Unité d'endocrinologie pédiatrique
المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, 16, pp. 82-89
Molecular Genetics and Metabolism Reports, 16, 82. Elsevier BV
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, 16, 82-89. Elsevier Science
Molecular Genetics and Metabolism Reports, Vol. 16, no. ?, p. 82-89 (2018)
Molecular Genetics and Metabolism Reports, 16, 82-89
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, 16, 82-89. ELSEVIER SCIENCE BV
Molecular Genetics and Metabolism Reports, Vol 16, Iss, Pp 82-89 (2018)مصطلحات موضوعية: 0301 basic medicine, Pediatrics, PKU, Phenylketonuria, Breastfeeding, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], IMD, Inherited Metabolic Disorders, PROTEIN, 030105 genetics & heredity, Phe-Free Infant Formula, Endocrinology, IMD, Standard infant formula, HDE PED, Medicine, Phenylketonuria, lcsh:QH301-705.5, 2. Zero hunger, lcsh:R5-920, 1184 Genetics, developmental biology, physiology, Inherited Metabolic Disorders, 3. Good health, PKU, GROWTH, lcsh:Medicine (General), DIETARY-MANAGEMENT, Research Paper, Phe, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Phe, Phenylalanine, Phenylalanine, Breast milk, 03 medical and health sciences, Phe-free infant formula, Infant practices, Genetics, Weaning, Molecular Biology, Newborn screening, Infant Practices, business.industry, Dietary management, nutritional and metabolic diseases, lcsh:Biology (General), Infant formula, Human medicine, business, Breast feeding
وصف الملف: pdf; image/pdf; application/pdf
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المؤلفون: U. Meyer, R. Pretese, Abhijit Ricky Pal, G. Caine, E. Sjoqvist, A. Dianin, Laurie Bernstein, R. Akroyd, M. van Rijn, Sharon Evans, M. Ziadlou, I. L. Kok, C. Timmer, E. Megdad, T.A.M. van den Hurk, G. Gugelmo, Y. Atik Altınok, Anita MacDonald, Majid Alfadhel, J. Serrano-Nieto, R. B. Oliveira, Sandrine Dubois, Inderdip Hunjan, Lucy White, Marjorie Dixon, S. Rosenbaum-Fabian, A. Pozzoli, E. Drogari, Alex Pinto, Carina Heidenborg, Barbara Cochrane, Júlio César Rocha, S. Delaunay, A. Liguori, E. Cameron, Joanna Gribben, R. Carruthers, S.M. Bernabei, D. Mayr, B. Kumru, G. Bruni, F. de Boer, Anne Daly, H. Zweers
المساهمون: Ege Üniversitesi, Endocrinology, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism
المصدر: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 13(1). BioMed Central
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Orphanet Journal of Rare Diseases, 13,
Orphanet Journal of Rare Diseases, 13, pp.
Orphanet journal of rare diseases, 13(1). BioMed Centralمصطلحات موضوعية: 0301 basic medicine, Fructose-1,6-Diphosphatase Deficiency, medicine.medical_specialty, Dietary restrictions, lcsh:Medicine, 030105 genetics & heredity, Hypoglycemia, 03 medical and health sciences, chemistry.chemical_compound, All institutes and research themes of the Radboud University Medical Center, Fructose 1,6 bisphosphatase deficiency, Internal medicine, Surveys and Questionnaires, Dietary Carbohydrates, Medicine, Humans, Pharmacology (medical), Medical prescription, GeneralLiterature_REFERENCE(e.g.,dictionaries,encyclopedias,glossaries), Genetics (clinical), Uncooked cornstarch, Fructose 1, business.industry, Research, Fasting tolerance, Metabolic disorder, lcsh:R, Dietary management, Fructose, Metabolic acidosis, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], General Medicine, Fasting, 6 bisphosphatase deficiency, medicine.disease, Regimen, Cross-Sectional Studies, chemistry, Lactic acidosis, Dietary Supplements, Acidosis, Lactic, business
وصف الملف: image/pdf; application/pdf
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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. 23-6مصطلحات 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