المؤلفون: Rosa Ribeiro, Arlindo Guimas, Nuno Borges, Sara Rocha, Anabela Bandeira, Júlio César Rocha, M.F. Almeida, Esmeralda Martins, Bruno Oliveira, Catarina Sousa Barbosa, Cátia A. Sousa, Anita MacDonald

المساهمون: Faculdade de Ciências da Nutrição e Alimentação

المصدر: Journal of Inborn Errors of Metabolism and Screening v.6 2018
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 6, Article number: e170028, Published: 28 FEB 2019
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)

مصطلحات موضوعية: 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, phenylketonuria, 030209 endocrinology & metabolism, Phenylalanine, 030105 genetics & heredity, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Medicine, In patient, Pre and post, Genetics (clinical), lcsh:R5-920, business.industry, Health sciences, Medical and Health sciences, Ciências médicas e da saúde, nutritional and metabolic diseases, metabolic control, Tetrahydrobiopterin, Endocrinology, BH4 loading test, Metabolic control analysis, Pediatrics, Perinatology and Child Health, Medical and Health sciences, Ciências da Saúde, Ciências médicas e da saúde, lcsh:Medicine (General), business, medicine.drug

وصف الملف: application/pdf; text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64f7f8052e39a90e086f2b5b3379fc56Test
https://doi.org/10.1177/2326409818788898Test

المؤلفون: Leah Queit, Indrajit S. Karande, Emily L. Boulter, Shanti Balasubramaniam

المصدر: Journal of Inborn Errors of Metabolism and Screening v.4 2016
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Vol 4 (2016)
Journal of Inborn Errors of Metabolism and Screening, Volume: 4, Article number: e160046, Published: 30 MAY 2019

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Cirrhosis, Endocrinology, Diabetes and Metabolism, 030105 genetics & heredity, Gastroenterology, Short stature, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Glycogen storage disease, aggressive dietary management, Genetics (clinical), lcsh:R5-920, severe phenotype, business.industry, Dietary management, medicine.disease, Ketotic hypoglycemia, Endocrinology, Metabolic control analysis, Pediatrics, Perinatology and Child Health, restitution of clinical and biochemical profiles, Transaminitis, medicine.symptom, lcsh:Medicine (General), Hepatic fibrosis, business, GSD IXa, 030217 neurology & neurosurgery

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d95ff083b4c02b066bb2799112ada53Test
https://doi.org/10.1177/2326409816682766Test