المؤلفون: Trevor Kirby, Dana C. Walters, Xutong Shi, Coleman Turgeon, Piero Rinaldo, Erland Arning, Paula Ashcraft, Teodoro Bottiglieri, Melissa DiBacco, Phillip L. Pearl, Jean-Baptiste Roullet, K. Michael Gibson

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)

مصطلحات موضوعية: Dried blood spots, Amino acids, Acylcarnitines, Creatinine, guanidinoacetate, Age-dependent correlations, γ-Hydroxybutyrate (GHB), Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01522-5; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/435f158ca9f4434a98b0aae66dfec9d1

المؤلفون: Karel Kalecký, Paula Ashcraft, Teodoro Bottiglieri

المصدر: Nutrients, Vol 14, Iss 3, p 599 (2022)

مصطلحات موضوعية: one-carbon metabolism, homocysteine, betaine, Alzheimer’s disease, Parkinson’s disease, dementia, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6643/14/3/599; https://doaj.org/toc/2072-6643

URL الوصول: https://doaj.org/article/8edbb5aa4a3d4428a897dd057a8f0d65

المؤلفون: Emanuela Pannia, Rola Hammoud, Ruslan Kubant, Jong Yup Sa, Rebecca Simonian, Brandi Wasek, Paula Ashcraft, Teodoro Bottiglieri, Zdenka Pausova, G. Harvey Anderson

المصدر: Nutrients, Vol 13, Iss 5, p 1477 (2021)

مصطلحات موضوعية: folic acid, [6S]-5-methyltetrahydrofolic acid, pregnancy, leptin, hypothalamus, metabolism, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6643/13/5/1477; https://doaj.org/toc/2072-6643

URL الوصول: https://doaj.org/article/7ba833b9b879462b9a996c4fc501ed82

المؤلفون: Emanuela Pannia, Rola Hammoud, Rebecca Simonian, Erland Arning, Paula Ashcraft, Brandi Wasek, Teodoro Bottiglieri, Zdenka Pausova, Ruslan Kubant, G. Harvey Anderson

المصدر: Nutrients, Vol 13, Iss 1, p 48 (2020)

مصطلحات موضوعية: folate, folic acid, pregnancy, food intake regulation, hypothalamus, postpartum, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6643/13/1/48; https://doaj.org/toc/2072-6643

URL الوصول: https://doaj.org/article/405e4cd94c024af7846432451a0c126f

المؤلفون: Erland, Arning, Paula, Ashcraft, Jeanna, Bennett-Firmin, Lawrence, Sweetman

المصدر: Methods in molecular biology (Clifton, N.J.). 2546

مصطلحات موضوعية: Ethanol, Humans, Urea, Organic Chemicals, Urease, Gas Chromatography-Mass Spectrometry, Mass Spectrometry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5e9e100e019a32509a606ef0ee1eeee9
https://pubmed.ncbi.nlm.nih.gov/36127603

المؤلفون: Bottiglieri, Karel Kalecký, Paula Ashcraft, Teodoro

المصدر: Nutrients; Volume 14; Issue 3; Pages: 599

مصطلحات موضوعية: one-carbon metabolism, homocysteine, betaine, Alzheimer’s disease, Parkinson’s disease, dementia, levodopa, metabolomics, brain frontal cortex

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=multidiscipl::fe54aae88e068668ed7d50f5fa3bc08c

المؤلفون: Erland Arning, Paula Ashcraft, Jeanna Bennett-Firmin, Lawrence Sweetman

المصدر: Clinical Applications of Mass Spectrometry in Biomolecular Analysis ISBN: 9781071625644

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::92086fdb459ab2503adde8763457a6df
https://doi.org/10.1007/978-1-0716-2565-1_31

المؤلفون: Trevor Kirby, Piero Rinaldo, Teodoro Bottiglieri, Paula Ashcraft, Coleman T. Turgeon, K. Michael Gibson, Dana C. Walters, Jean Baptiste Roullet, Erwin E.W. Jansen, Madalyn Brown, Gajja S. Salomons, Erland Arning

المساهمون: Clinical chemistry, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Laboratory Genetic Metabolic Diseases, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism

المصدر: Kirby, T, Walters, D C, Brown, M, Jansen, E, Salomons, G S, Turgeon, C, Rinaldo, P, Arning, E, Ashcraft, P, Bottiglieri, T, Roullet, J B & Gibson, K M 2020, ' Post-mortem tissue analyses in a patient with succinic semialdehyde dehydrogenase deficiency (SSADHD). I. Metabolomic outcomes ', METABOLIC BRAIN DISEASE, vol. 35, no. 4, pp. 601-614 . https://doi.org/10.1007/s11011-020-00550-1
METABOLIC BRAIN DISEASE, 35(4), 601-614. Springer New York
Metabolic brain disease, 35(4), 601-614. Springer New York
Metab Brain Dis

مصطلحات موضوعية: 0301 basic medicine, Succinic semialdehyde dehydrogenase deficiency, medicine.medical_specialty, Creatine, Biochemistry, Article, Succinic semialdehyde, 03 medical and health sciences, Cellular and Molecular Neuroscience, chemistry.chemical_compound, GABA, 0302 clinical medicine, Internal medicine, medicine, Metabolomics, chemistry.chemical_classification, Creatinine, Fatty acid metabolism, Chemistry, γ-Hydroxybutyric acid, Metabolism, medicine.disease, Amino acid, Glutamine, 030104 developmental biology, Endocrinology, Amino acids, Neurology (clinical), 030217 neurology & neurosurgery, Acylcarnitines

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a56ab89e22aed032434a39130bd828ad
https://doi.org/10.1007/s11011-020-00550-1

المؤلفون: Erland Arning, Paula Ashcraft, K. Michael Gibson, Teodoro Bottiglieri, Jean Baptiste Roullet, Madalyn Brown

المصدر: Mol Genet Metab

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Succinic semialdehyde dehydrogenase deficiency, Adolescent, Developmental Disabilities, Endocrinology, Diabetes and Metabolism, Urine, 030105 genetics & heredity, Biochemistry, Article, Young Adult, 03 medical and health sciences, Neonatal Screening, 0302 clinical medicine, Endocrinology, GABA metabolism, Genetics, medicine, Humans, Child, Amino Acid Metabolism, Inborn Errors, Molecular Biology, Newborn screening, Chromatography, Chemistry, Infant, Newborn, Infant, Gamma hydroxybutyrate, gamma-Hydroxybutyric acid, Metabolism, medicine.disease, Child, Preschool, Female, Dried Blood Spot Testing, Succinate-Semialdehyde Dehydrogenase, Sodium Oxybate, 030217 neurology & neurosurgery, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90eef97f0d04fb2e6ef456e5d8ca5f33
https://doi.org/10.1016/j.ymgme.2019.07.010

المؤلفون: Ruslan Kubant, Brandi Wasek, Emanuela Pannia, Zdenka Pausova, Rola Hammoud, Paula Ashcraft, Rebecca Simonian, Jong Yup Sa, G. Harvey Anderson, Teodoro Bottiglieri

المصدر: Nutrients
Volume 13
Issue 5
Nutrients, Vol 13, Iss 1477, p 1477 (2021)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, female offspring, [6S]-5-methyltetrahydrofolic acid, food intake, Offspring, 030209 endocrinology & metabolism, Biology, leptin, Article, Mice, 03 medical and health sciences, folic acid, body weight, 0302 clinical medicine, Internal medicine, medicine, Animals, Weaning, TX341-641, Rats, Wistar, hypothalamus, Tetrahydrofolates, in utero programming, Pregnancy, Nutrition and Dietetics, Leptin receptor, Nutrition. Foods and food supply, Leptin, Feeding Behavior, medicine.disease, Diet, 030104 developmental biology, Endocrinology, Animals, Newborn, Models, Animal, Vitamin B Complex, Anorectic, Gestation, Female, pregnancy, medicine.symptom, Energy Intake, Energy Metabolism, Weight gain, metabolism, Food Science

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::195f48924cb151b423b1aa45df218556