المؤلفون: Paula Sánchez-Pintos, Maria José Camba-Garea, Beatriz Martin López-Pardo, Jose A. Cocho de Juan, M. Dolores Bóveda, Sofia Barbosa-Gouveia, Maria E Vázquez-Mosquera, Francisco Barros-Angueira, Raquel Fernández Patiño, Maria L. Couce

المصدر: BMC Pediatrics, Vol 24, Iss 1, Pp 1-6 (2024)

مصطلحات موضوعية: Type IV galactosemia, GALM deficiency, Galactose mutarotase deficiency, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2431

URL الوصول: https://doaj.org/article/328914c3c58d4540a861bf9746e623c8

المؤلفون: Paula, Sánchez Pintos, José Ángel, Cocho de Juan, M Dolores, Bóveda Fontán, Daisy E, Castiñeiras Ramos, Cristóbal, Colón Mejeras, Agustin Javier, Iglesias Rodríguez, María José, de Castro López, José Ramón, Alonso Fernández, José María, Fraga Bermúdez, María Luz, Couce Pico

المصدر: Revista espanola de salud publica. 94

مصطلحات موضوعية: Male, Neonatal Screening, Cystic Fibrosis, Spain, Incidence, Congenital Hypothyroidism, Infant, Newborn, Humans, False Positive Reactions, Female, Sensitivity and Specificity, Metabolism, Inborn Errors, Program Evaluation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::60b6bad1478152fb4a580c337a1f6ac1
https://pubmed.ncbi.nlm.nih.gov/33323918

المؤلفون: Alicia Mirás, José M. Fraga, Antonio Mera, Luis Aldámiz-Echevarría, María R. Leis, M. Dolores Bóveda, María L. Couce, José Ramón Fernández-Lorenzo

المصدر: Molecular Genetics and Metabolism. 108:149-154

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, Parathyroid hormone, Physiology, Motor Activity, Biochemistry, Bone and Bones, Body Mass Index, Endocrinology, Bone Density, Risk Factors, Phenylketonurias, Surveys and Questionnaires, Internal medicine, Genetics, medicine, Vitamin D and neurology, Humans, Mass index, Child, Bone Demineralization, Pathologic, Molecular Biology, Calcium metabolism, Minerals, Chemistry, Phenylalanine Hydroxylase, medicine.disease, Biopterin, Eicosapentaenoic acid, Osteopenia, Bone Diseases, Metabolic, Cross-Sectional Studies, Eicosapentaenoic Acid, Docosahexaenoic acid, Mutation, Osteoporosis, Calcium, Female, Dietary Proteins, Body mass index

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d24068720f35360c6c8dc1294050904d
https://doi.org/10.1016/j.ymgme.2012.12.008

المؤلفون: M. Dolores Bóveda, José M. Fraga, M. Maira Rebollido-Fernandez, M. Luz Couce, Daisy E. Castiñeiras, José A. Cocho

المصدر: Rapid Communications in Mass Spectrometry. 26:2131-2144

مصطلحات موضوعية: chemistry.chemical_classification, Newborn screening, Chromatography, Electrospray ionization, Organic Chemistry, Cystine, Urine, Metabolism, Tandem mass spectrometry, Analytical Chemistry, Amino acid, chemistry.chemical_compound, chemistry, Homogentisic acid, Spectroscopy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::70da36860a88707ed889758c0b62d6f4
https://doi.org/10.1002/rcm.6325

المؤلفون: Célia Nogueira, M. Dolores Bóveda, Ana Marcão, Helena Fonseca, Laura Vilarinho, Filipa Ferreira, J.M. Fraga, María L. Couce

المصدر: JIMD Reports ISBN: 9783662466995

مصطلحات موضوعية: medicine.medical_specialty, Homocysteine, Rastreio Neonatal, MAT I/III Deficiency, Homocystinuria, Urine, Península Ibérica, Doenças Metabólicas, Article, chemistry.chemical_compound, Internal medicine, Doenças Raras, medicine, Homocistinúria Clássica, Dried blood, Newborn screening, Methionine, Portugal, biology, business.industry, Deficiência em MAT I/III, medicine.disease, Cystathionine beta synthase, Doenças Genéticas, Galiza, Surgery, Endocrinology, chemistry, biology.protein, business, Homocistinúria

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b45bd8ed44e43311000e98d8d17a2f49
https://doi.org/10.1007/8904_2014_400

المؤلفون: José A. Cocho de Juan, Luis Pérez Suárez, Daisy E. Castiñeiras Ramos, José María Fraga Bermúdez, Laura García Nimo, Tegra Barreiro Martinez, M. Dolores Bóveda Fontán

المصدر: RUNA. Repositorio da Consellería de Sanidade e Sergas
Servizo Galego de Saúde (SERGAS)

مصطلحات موضوعية: Biochemistry (medical), Clinical Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ce7483e118384143957497b585fb99d
http://hdl.handle.net/20.500.11940/5275

المؤلفون: María L. Couce, Ana Fernández-Marmiesse, Fernando J. Corrales, Concepción García-Jimémez, M. Dolores Bóveda, José M. Fraga, Elena Balmaseda, S. Harvey Mudd, Inmaculada Vives, Daisy E. Castiñeiras

المصدر: Molecular Genetics and Metabolism. 114:486

مصطلحات موضوعية: Gynecology, Genetics, Newborn screening, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Biology, Biochemistry, Endocrinology, METHIONINE ADENOSYLTRANSFERASE I/III DEFICIENCY, METABOLIC/LABORATORY, medicine, In patient, Molecular Biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::80ca85b8b6670b2436d57917ed0be5dd
https://doi.org/10.1016/j.ymgme.2015.01.011

المؤلفون: María L. Couce, José Ramón Fernández-Lorenzo, Luis Aldámiz-Echevarría, M. Dolores Bóveda, María R. Leis, Antonio Mera, José M. Fraga, Alicia Mirás

المصدر: Molecular Genetics and Metabolism. 114:483

مصطلحات موضوعية: Gynecology, medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Genetics, METABOLIC/LABORATORY, Medicine, business, Molecular Biology, Biochemistry, Mineral bone disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f1acca415005a8041662a7fa2c47da7c
https://doi.org/10.1016/j.ymgme.2015.01.008