نتائج البحث - "Footitt, Emma J."

1

دورية أكاديمية

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

المؤلفون: Tseng, Laura A., Abdenur, Jose E., Andrews, Ashley, Aziz, Verena G., Bok, Levinus A., Boyer, Monica, Buhas, Daniela, Hartmann, Hans, Footitt, Emma J., Gronborg, Sabine, Janssen, Mirian C. H., Longo, Nicola, Lunsing, Roelineke J., MacKenzie, Alex E., Wijburg, Frits A., Gospe, Sidney M., Coughlin, Curtis R., van Karnebeek, Clara D. M.

المصدر: Tseng , L A , Abdenur , J E , Andrews , A , Aziz , V G , Bok , L A , Boyer , M , Buhas , D , Hartmann , H , Footitt , E J , Gronborg , S , Janssen , M C H , Longo , N , Lunsing , R J , MacKenzie , A E , Wijburg , F A , Gospe , S M , Coughlin , C R & van Karnebeek , C D M 2022 , ' Timing of therapy and neurodevelopmental outcomes in 18 families with ....

مصطلحات موضوعية: Pyridoxine-dependent epilepsy, PDE-ALDH7A1, Lysine reduction therapies, Lysine-restricted diet, Arginine supplementation, Sibling study, Neurodevelopmental outcome, ANTIQUITIN DEFICIENCY, FEATURES, DIAGNOSIS, CHILDREN, SIBLINGS, SEIZURES, SPECTRUM, DIET

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/63d3053c-677f-4f34-a202-342e3b33b377Test

الإتاحة: https://doi.org/10.1016Test/j.ymgme.2022.02.005
https://hdl.handle.net/11370/63d3053c-677f-4f34-a202-342e3b33b377Test
https://research.rug.nl/en/publications/63d3053c-677f-4f34-a202-342e3b33b377Test
https://pure.rug.nl/ws/files/219085923/1_s2.0_S1096719222001378_main.pdfTest

View record in BASE

2

دورية أكاديمية

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency

المصدر: Coughlin , C R , Tseng , L A , Abdenur , J E , Ashmore , C , Boemer , F , Bok , L A , Boyer , M , Buhas , D , Clayton , P T , Das , A , Dekker , H , Evangeliou , A , Feillet , F , Footitt , E J , Gospe , S M , Hartmann , H , Kara , M , Kristensen , E , Lee , J , Lilje , R , Longo , N , Lunsing , R J , Mills , P ....

مصطلحات موضوعية: alpha aminoadipic semialdehyde, consensus guidelines, pyridoxine‐, dependent epilepsy, responsive seizures, MOLYBDENUM COFACTOR DEFICIENCY, HOMOZYGOUS MISSENSE MUTATION, DIETARY LYSINE RESTRICTION, ACID-RESPONSIVE SEIZURES, ARGININE SUPPLEMENTATION, PIPECOLIC ACID, ANTIQUITIN DEFICIENCY, ALDH7A1, FEATURES, EPIDEMIOLOGY

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/226f4fbc-4b79-4e7d-8e1a-9bed0a75afc2Test

الإتاحة: https://doi.org/10.1002/jimd.12332Test
https://hdl.handle.net/11370/226f4fbc-4b79-4e7d-8e1a-9bed0a75afc2Test
https://research.rug.nl/en/publications/226f4fbc-4b79-4e7d-8e1a-9bed0a75afc2Test
https://pure.rug.nl/ws/files/156009464/jimd.12332.pdfTest

View record in BASE

3

دورية أكاديمية

An LC–MS/MS-Based Method for the Quantification of Pyridox(am)ine 5′-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy

المؤلفون: Wilson, Matthew P., Footitt, Emma J., Papandreou, Apostolos, Uudelepp, Mari-Liis, Pressler, Ronit, Stevenson, Danielle C., Gabriel, Camila, McSweeney, Mel, Baggot, Matthew, Burke, Derek, Stödberg, Tommy, Riney, Kate, Schiff, Manuel, Heales, Simon J. R., Mills, Kevin A., Gissen, Paul, Clayton, Peter T., Mills, Philippa B.

المساهمون: Great Ormond Street Hospital Charity, National Institute for Health Research, Wellcome Trust, University College London

المصدر: Analytical Chemistry ; volume 89, issue 17, page 8892-8900 ; ISSN 0003-2700 1520-6882

مصطلحات موضوعية: Analytical Chemistry

الإتاحة: https://doi.org/10.1021/acs.analchem.7b01358Test

View record in BASE

4

دورية أكاديمية

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

المصدر: Mills, Philippa B; Camuzeaux, Stephane S M; Footitt, Emma J; Mills, Kevin A; Gissen, Paul; Fisher, Laura; Das, Krishna B; Varadkar, Sophia M; Zuberi, Sameer; McWilliam, Robert; Stödberg, Tommy; Plecko, Barbara; Baumgartner, Matthias R; Maier, Oliver; Calvert, Sophie; Riney, Kate; Wolf, Nicole I; Livingston, John H; Bala, Pronab; Morel, Chantal F; Feillet, François; Raimondi, Francesco; Del Giudice, Ennio; Chong, W Kling; Pitt, Matthew; Clayton, Peter T (2014). Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain, 137(5):1350-1360.

مصطلحات موضوعية: Medical Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/94354/1/Brain-2014-Mills-brain_awu051.pdfTest; info:pmid/24645144; urn:issn:0006-8950

الإتاحة: https://doi.org/10.5167/uzh-9435410.1093/brain/awu051Test
https://www.zora.uzh.ch/id/eprint/94354Test/
https://www.zora.uzh.ch/id/eprint/94354/1/Brain-2014-Mills-brain_awu051.pdfTest

View record in BASE

النص الكامل

5

دورية أكاديمية

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.

المصدر: Journal of Inherited Metabolic Disease (2021)

مصطلحات موضوعية: ALDH7A1, Alpha aminoadipic semialdehyde, Consensus guidelines, Pyridoxine-dependent epilepsy, Pyridoxine-responsive seizures, Human health sciences, Endocrinology, metabolism & nutrition, Sciences de la santé humaine, Endocrinologie, métabolisme & nutrition

العلاقة: urn:issn:0141-8955; urn:issn:1573-2665

الوصول الحر: https://orbi.uliege.be/handle/2268/253192Test

View record in ORBi

6

دورية أكاديمية

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

المساهمون: University College London, NIHR Biomedical Research Centre, Royal Marsden NHS Foundation Trust/Institute of Cancer Research, National Institute for Health Research

المصدر: Journal of Inherited Metabolic Disease ; volume 44, issue 1, page 178-192 ; ISSN 0141-8955 1573-2665

الإتاحة: https://doi.org/10.1002/jimd.12332Test

View record in BASE