المؤلفون: Orla Purcell, Aoife Coughlan, Tim Grant, Jenny McNulty, Anne Clark, Deirdre Deverell, Philip Mayne, Joanne Hughes, Ahmad Monavari, Ina Knerr, Ellen Crushell

المصدر: Journal of Nutrition and Metabolism, Vol 2017 (2017)

مصطلحات موضوعية: Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-0724; https://doaj.org/toc/2090-0732

URL الوصول: https://doaj.org/article/c4371808b69244809a46dd75e1f1011d

المؤلفون: Philip Mayne

المصدر: Conservative Governments in the Age of Brexit ISBN: 9783031214639

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0816383f37d0f724cd8dfb42ed957e48
https://doi.org/10.1007/978-3-031-21464-6_12

المؤلفون: Stephanie Ryan, Philip Mayne, Niamh McGrath, Nuala Murphy, Colin P. Hawkes

المصدر: Hormone Research in Paediatrics. 94:36-43

مصطلحات موضوعية: Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Thyroid Gland, Levothyroxine, Thyrotropin, Ectopic Thyroid Gland, Thyroid Function Tests, Scintigraphy, Gastroenterology, Neonatal Screening, Endocrinology, Internal medicine, Congenital Hypothyroidism, medicine, Humans, Radionuclide Imaging, Ultrasonography, Newborn screening, medicine.diagnostic_test, business.industry, Thyroid, Ultrasound, Infant, Newborn, medicine.disease, Congenital hypothyroidism, Thyroxine, medicine.anatomical_structure, Thyroid Dysgenesis, Pediatrics, Perinatology and Child Health, Female, business, medicine.drug, Hormone

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce025e142dcade977a4a1d329651df66
https://doi.org/10.1159/000514989

المؤلفون: Yvonne Rogers, Joanne Hughes, Kevin Carson, Ina Knerr, Kim Hunter, Atif Awan, Ahmad Monavari, Johannes Häberle, Amre Shahwan, Ingrid Borovickova, Véronique Rüfenacht, Philip Mayne, Bryan Lynch, Ellen Crushell, Daniel O'Reilly, Michael Riordan, Stephanie Ryan, Eileen P. Treacy

المصدر: Journal of Inherited Metabolic Disease. 44:639-655

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Genotype, medicine.medical_treatment, Population, BCKDHA, 03 medical and health sciences, Neonatal Screening, Maple Syrup Urine Disease, Leucine, Diet, Protein-Restricted, Genetics, Humans, Medicine, Early childhood, Child, education, Genetics (clinical), Dialysis, Retrospective Studies, 030304 developmental biology, 0303 health sciences, education.field_of_study, business.industry, Maple syrup urine disease, Incidence (epidemiology), 030305 genetics & heredity, Infant, Newborn, Infant, medicine.disease, Early Diagnosis, Phenotype, Child, Preschool, Metabolic control analysis, Cohort, Female, Dried Blood Spot Testing, business, Ireland

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::103bad65193681a00b024196fe27e3dc
https://doi.org/10.1002/jimd.12337

المؤلفون: François Maillot, Philip Mayne, Siobhan O’Sullivan, Martina Huemer, Helene Ogier, Viktor Kožich, Kimberly A. Chapman, Isabel Tavares de Almeida, Michel Hochuli, Sufin Yap, Tara M. Morrison, Tawfeg Ben-Omran, Miriam C Janssen, Henk J. Blom, Allyson Terry, Anupam Chakrapani, Mick J. Henderson, Ellen Crushell, Marketa Pavlikova, Jenny McNulty, Generoso Andria, Saikat Santra, Andrew A. M. Morris

المساهمون: University of Zurich, Morris, Andrew A M

المصدر: Journal of Inherited Metabolic Disease, 40, 1, pp. 49-74
Journal of Inherited Metabolic Disease, 40, 49-74
Journal of Inherited Metabolic Disease

مصطلحات موضوعية: 0301 basic medicine, 2716 Genetics (clinical), medicine.medical_specialty, Pediatrics, Total homocysteine, Methionine metabolism, Homocysteine, 10265 Clinic for Endocrinology and Diabetology, Cystathionine beta-Synthase, 610 Medicine & health, Guidelines, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Methionine, 1311 Genetics, Internal medicine, medicine, Genetics, Humans, Genetics(clinical), Ectopia lentis, Genetics (clinical), biology, business.industry, Pyridoxine, Metabolic Disorders Radboud Institute for Molecular Life Sciences [Radboudumc 6], medicine.disease, Cystathionine beta synthase, Betaine, 030104 developmental biology, Endocrinology, chemistry, 10036 Medical Clinic, biology.protein, Homocystinuria, Skeletal abnormalities, business, 030217 neurology & neurosurgery, medicine.drug

وصف الملف: application/pdf; ZORA132740.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c24c341f9a11b769e55ed1a8677b7680
https://hdl.handle.net/2066/169680

المؤلفون: Ritma Boruah, Arie Fisher, Philip Mayne, Ina Knerr, Ahmad Monavari, Ellen Crushell

المصدر: Abstracts.

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Newborn screening, Phenylalanine hydroxylase, biology, business.industry, Standard treatment, Phenylalanine, Tetrahydrobiopterin, medicine.disease, Dihydropteridine Reductase, Epilepsy, QDPR, medicine, biology.protein, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::476940a7d2aaca9f521bfa98c9f6b1fe
https://doi.org/10.1136/archdischild-2019-epa.285

المؤلفون: Malkanthi Fernando, Jörn Oliver Sass, PE Fitzsimons, Claudia Till, Ellen Crushell, Attia Kalim, Philip Mayne

المصدر: Brain and Development. 39:536-538

مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Arginine, Biology, Serine, Excretion, 03 medical and health sciences, Exon, 0302 clinical medicine, Developmental Neuroscience, Internal medicine, medicine, Humans, Global developmental delay, Family Health, Kinase, Catabolism, Phosphotransferases, General Medicine, Magnetic Resonance Imaging, Phosphotransferases (Alcohol Group Acceptor), 030104 developmental biology, Endocrinology, Child, Preschool, Mutation, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), 030217 neurology & neurosurgery, Carbohydrate Metabolism, Inborn Errors, Urine organic acids

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42b01aafe4dc5422f3069a52e7608249
https://doi.org/10.1016/j.braindev.2017.01.005

المؤلفون: Philip Mayne, Niamh McGrath, Declan Cody, Colin P. Hawkes, Nuala Murphy, Ciara McDonnell, Susan M. O’Connell

المصدر: Pediatrics. 142(4)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Population, Thyrotropin, 030209 endocrinology & metabolism, Context (language use), Single Center, 03 medical and health sciences, 0302 clinical medicine, Neonatal Screening, 030225 pediatrics, Population Heterogeneity, medicine, Congenital Hypothyroidism, Humans, Prospective Studies, education, Prospective cohort study, Survival rate, education.field_of_study, Newborn screening, business.industry, Incidence (epidemiology), Incidence, Infant, Newborn, medicine.disease, Congenital hypothyroidism, Pediatrics, Perinatology and Child Health, Female, business, Ireland

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::633b65c5ca2e15d71d7410928d24cf52
https://pubmed.ncbi.nlm.nih.gov/30242076

المؤلفون: Philip Mayne, Nuala Murphy, Niamh McGrath, Colin P. Hawkes

المصدر: Hormone research in paediatrics. 89(4)

مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Demographics, Endocrinology, Diabetes and Metabolism, Levothyroxine, Thyrotropin, 030209 endocrinology & metabolism, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Thyroid-stimulating hormone, 030225 pediatrics, medicine, Congenital Hypothyroidism, Humans, Mass Screening, Whole blood, Retrospective Studies, Newborn screening, business.industry, Incidence (epidemiology), Infant, Newborn, medicine.disease, Congenital hypothyroidism, Pediatrics, Perinatology and Child Health, Female, business, Ireland, Hormone, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcbe600b70cfc679fa43cd13f52239d7
https://pubmed.ncbi.nlm.nih.gov/29804122

المؤلفون: Farhana Sharif, J. J. O’Byrne, D. R. Betts, Sally Ann Lynch, Philip Mayne, Mary D. King, Eileen P. Treacy

المصدر: Irish Journal of Medical Science (1971 -). 185:241-248

مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Developmental Disabilities, Best practice, First line, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Guideline development, Global developmental delay, Child, Intensive care medicine, Protocol (science), Learning Disabilities, business.industry, General Medicine, Guideline, Radiological weapon, Learning disability, medicine.symptom, business, Metabolism, Inborn Errors, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d7ba5e33fe16787b54e78b75ed1d848
https://doi.org/10.1007/s11845-015-1284-7