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

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

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المؤلفون: Furujo Mahoko, Ichiba Yozo, Sintaku Haruo, Asada Minoru

المصدر: Pteridines, Vol 11, Iss 4, Pp 126-128 (2000)

مصطلحات موضوعية: tetrahydrobiopterin(bh4) loading test, dihydropteridine reductase (dhpr), hyperprolactinemia, neurotransmitter precursor, homovanillic acid (hva), 5-hydroxyindole acetic acid (5hiaa), 5- hydroxy tryptophan (5-htp), quinonoid dihydrobiopterin (qbh2)' phenylketonuria (pku), Crystallography, QD901-999

وصف الملف: electronic resource

Relation: https://doaj.org/toc/0933-4807; https://doaj.org/toc/2195-4720

URL الوصول: https://doaj.org/article/747c9dd5b377495597d88b91137bf803

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64f7f8052e39a90e086f2b5b3379fc56
https://doi.org/10.1177/2326409818788898

المؤلفون: María I Salazar García-Blanco, A. Baldellou Vázquez, María P Ruiz-Echarri Zalaya, C. Campos Calleja, M. Ugarte Pérez, L Ruiz Desviat

المصدر: Anales de Pediatría, Vol 64, Iss 2, Pp 146-152 (2006)

مصطلحات موضوعية: Tetrahydrobiopterin, Hyperphenylalaninemia, BH4 loading test, Pediatrics, Perinatology and Child Health, Pediatrics, RJ1-570, Hyperphenylalaninemia treatment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0060ada5ca5d107a529dc0718a3699df
https://doi.org/10.1157/13084174

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المؤلفون: Minoru Asada, Haruo Sintaku, Yozo Ichiba, Mahoko Furujo

المصدر: Pteridines, Vol 11, Iss 4, Pp 126-128 (2000)

مصطلحات موضوعية: medicine.medical_specialty, Crystallography, business.industry, Clinical Biochemistry, 5- hydroxy tryptophan (5-htp), neurotransmitter precursor, dihydropteridine reductase (dhpr), Biochemistry, quinonoid dihydrobiopterin (qbh2)' phenylketonuria (pku), Dihydropteridine reductase deficiency, Endocrinology, hyperprolactinemia, QD901-999, Internal medicine, 5-hydroxyindole acetic acid (5hiaa), medicine, Molecular Medicine, tetrahydrobiopterin(bh4) loading test, homovanillic acid (hva), business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a928fe8a471c8da5cb5b5f70f837fa4b
https://doaj.org/article/747c9dd5b377495597d88b91137bf803

المؤلفون: Ponzone, A, Spada, M, Ferrero, Giovanni Battista, Ferraris, S, Guardamagna, Ornella, Burlina, A.

مصطلحات موضوعية: hyperphenylalaninemia, diagnosis, tetrahydrobiopterin deficiency, neonatal screening, combined phenylalanine and BH4 loading test

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_______970::ab4db6ce449968401478a38a5bcdcf23
http://hdl.handle.net/2318/125853

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