المؤلفون: Bindi, Verónica, Eiroa, Hernán D., Crespo, Carolina, Martinez, María, Bay, Luisa

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2021 9

مصطلحات موضوعية: Glycogen storage disease I, growth, metabolic control, Complications, liver adenoma, Hypertriglyceridemia, Lactic acidemia, nephropathy

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100307Test

المؤلفون: Verónica Bindi, Hernán D. Eiroa, Carolina Crespo, María Martinez, Luisa Bay

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)

مصطلحات موضوعية: Glycogen storage disease I, growth, metabolic control, Complications, liver adenoma, Hypertriglyceridemia, Lactic acidemia, nephropathy, Medicine (General), R5-920

وصف الملف: electronic resource

العلاقة: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100307&tlng=enTest; https://doaj.org/toc/2326-4594Test

الوصول الحر: https://doaj.org/article/1d73ed9acea64deaaac3451021869be2Test

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

المصدر: Journal of Inborn Errors of Metabolism and Screening. January 2018 6

مصطلحات موضوعية: phenylketonuria, BH4 loading test, metabolic control

وصف الملف: text/html

الوصول الحر: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942018000100307Test

المؤلفون: María Martinez, Verónica Bindi, Carolina Crespo, Luisa Bay, Hernán Eiroa

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT

مصطلحات موضوعية: medicine.medical_specialty, Medicine (General), Complications, Endocrinology, Diabetes and Metabolism, growth, Hypoglycemia, Carbohydrate metabolism, Gastroenterology, Nephropathy, chemistry.chemical_compound, R5-920, Internal medicine, Lactic acidemia, medicine, Genetics (clinical), Glycogen storage disease I, Hypertriglyceridemia, Glycogen storage disease type I, Triglyceride, business.industry, metabolic control, medicine.disease, chemistry, Metabolic control analysis, Pediatrics, Perinatology and Child Health, Cohort, nephropathy, business, liver adenoma

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c56d6a9df990cfd6f8b8981cc8d9e1bTest
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100307&tlng=enTest

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