المؤلفون: PE Fitzsimons, Tracey A. Conlon, Ingrid Borovickova, Sinéad Murphy, Ina Knerr, Ellen Crushell, Fidelma Kirby

المصدر: JIMD Reports
JIMD Reports, Vol 55, Iss 1, Pp 26-31 (2020)

مصطلحات موضوعية: medicine.medical_specialty, lcsh:QH426-470, hypertriglyceridemia, Endocrinology, Diabetes and Metabolism, Encephalopathy, Case Report, Case Reports, Hypoglycemia, Compound heterozygosity, lcsh:Diseases of the endocrine glands. Clinical endocrinology, Biochemistry, Genetics and Molecular Biology (miscellaneous), Internal medicine, Internal Medicine, medicine, 3‐hydroxyglutarate (3HG), Hemophagocytic lymphohistiocytosis, lcsh:RC648-665, HMG‐CoA synthase deficiency, business.industry, 4‐hydroxy‐6‐methyl‐2‐pyrone (4HMP), Hypertriglyceridemia, Hypoketotic hypoglycemia, Metabolic acidosis, medicine.disease, ketogenesis, lcsh:Genetics, hypoglycemia, Endocrinology, business, Urine organic acids

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7430d5ef78275268ea339e78a4eba94a
https://doi.org/10.1002/jmd2.12146

المؤلفون: Ellen Crushell, Abhidhamma Kaninde, PE Fitzsimons, Ingrid Borovickova, Tracey A. Conlon

المصدر: Abstracts.

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Encephalopathy, Metabolic acidosis, medicine.disease, Compound heterozygosity, Endocrinology, Internal medicine, medicine, Vomiting, Ketonuria, medicine.symptom, Acetylcarnitine, business, medicine.drug, Urine organic acids, Acidosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::556aa0b51f4133626add1fe5f751698b
https://doi.org/10.1136/archdischild-2019-epa.762

المؤلفون: Ingrid Borovickova, Melanie Cotter, Andrea Malone, PE Fitzsimons, David S. Foley

المصدر: Abstracts.

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Urinary system, Methylmalonic acid, Renal function, Reference range, Macrocytosis, medicine.disease, Cobalamin, Gastroenterology, chemistry.chemical_compound, Liver disease, chemistry, Internal medicine, medicine, Vitamin B12, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::2e7054f57703b9c82c44cbf94eb63de6
https://doi.org/10.1136/archdischild-2019-epa.126

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: Conlon TA; National Centre for Inherited Metabolic Disorders Children's Health Ireland at Temple Street Dublin Ireland.; School of Medicine University College Dublin Dublin Ireland., Fitzsimons PE; Department of Paediatric Laboratory Medicine Children's Health Ireland at Temple Street Dublin Ireland., Borovickova I; Department of Paediatric Laboratory Medicine Children's Health Ireland at Temple Street Dublin Ireland., Kirby F; Department of Paediatric Intensive Care Children's Health Ireland at Temple Street Dublin Ireland., Murphy S; School of Medicine University College Dublin Dublin Ireland.; Department of General Paediatrics Children's Health Ireland at Temple Street Dublin Ireland., Knerr I; National Centre for Inherited Metabolic Disorders Children's Health Ireland at Temple Street Dublin Ireland.; School of Medicine University College Dublin Dublin Ireland., Crushell E; National Centre for Inherited Metabolic Disorders Children's Health Ireland at Temple Street Dublin Ireland.; School of Medicine University College Dublin Dublin Ireland.

المصدر: JIMD reports [JIMD Rep] 2020 Jun 30; Vol. 55 (1), pp. 26-31. Date of Electronic Publication: 2020 Jun 30 (Print Publication: 2020).

نوع المنشور: Case Reports

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE

المؤلفون: Fitzsimons PE; Department of Paediatric Laboratory Medicine, Temple Street Children's University Hospital, Dublin, Ireland., Alston CL; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, United Kingdom., Bonnen PE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Hughes J; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland., Crushell E; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland., Geraghty MT; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada K1H 8L1., Tetreault M; Department of Human Genetics, McGill University, Montreal, Québec, Canada H3A 1B1., O'Reilly P; National Centre for Inherited Metabolic Disorders, Temple Street Children's University Hospital, Dublin, Ireland., Twomey E; Department of Radiology, Temple Street Children's University Hospital, Dublin, Ireland., Sheikh Y; Department of Radiology, Temple Street Children's University Hospital, Dublin, Ireland., Walsh R; Department of Paediatric Laboratory Medicine, Temple Street Children's University Hospital, Dublin, Ireland., Waterham HR; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands., Wanders RJA; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands., Taylor RW; Wellcome Centre for Mitochondrial Research, Newcastle University, Newcastle upon Tyne, NE2 4HH, United Kingdom., Pitt JJ; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia., Mayne PD; Department of Paediatric Laboratory Medicine, Temple Street Children's University Hospital, Dublin, Ireland.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2018 May; Vol. 176 (5), pp. 1115-1127. Date of Electronic Publication: 2018 Mar 25.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Biomarkers* , Genetic Association Studies*/methods , Genetic Predisposition to Disease* , Phenotype*, Enoyl-CoA Hydratase/*deficiency, Amino Acid Sequence ; Brain/abnormalities ; Brain/diagnostic imaging ; Chromatography, Liquid ; DNA Mutational Analysis ; Enoyl-CoA Hydratase/genetics ; Enoyl-CoA Hydratase/metabolism ; Enzyme Activation ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Metabolic Networks and Pathways ; Metabolome ; Metabolomics/methods ; Pedigree ; Tandem Mass Spectrometry ; Valine/metabolism

المؤلفون: Chopra M; Northern Ireland Center for Diet and Health (NICHE), University of Ulster, Coleraine BT52 1SA, Northern Ireland. M.Chopra@ulst.ac.uk, Fitzsimons PE, Strain JJ, Thurnham DI, Howard AN

المصدر: Clinical chemistry [Clin Chem] 2000 Aug; Vol. 46 (8 Pt 1), pp. 1162-70.

نوع المنشور: Clinical Trial; Journal Article; Randomized Controlled Trial; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Print ISSN: 0009-9147 (Print) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE

مواضيع طبية MeSH: Wine*, Antioxidants/*pharmacology , Lipoproteins, LDL/*blood , Quercetin/*pharmacology, Adult ; Aged ; Apolipoproteins B/blood ; Ascorbic Acid/blood ; Carotenoids/blood ; Humans ; Kinetics ; Lipoproteins, LDL/chemistry ; Male ; Middle Aged ; Oxidation-Reduction ; Vitamin A/blood ; Vitamin E/blood