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Author/Creator Footitt, Emma

1. Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy. (6th December 2022)

Authors:
Coughlin, Curtis R.; Tseng, Laura A.; Bok, Levinus A.; Hartmann, Hans; Footitt, Emma; Striano, Pasquale; Tabarki, Brahim M.; Lunsing, Roelineke J.; Stockler-Ipsiroglu, Sylvia; Gordon, Shanlea; Van Hove, Johan L.K.; Abdenur, Jose E.; Boyer, Monica; Longo, Nicola; Andrews, Ashley; Janssen, Mirian C...
Journal:
Neurology
Issue:
Volume 99:Number 23(2022)
Page Start:
e2627
Record Type:
Journal Article
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2. Clinical status, biochemical profile and management of a single cohort of patients with arginase deficiency. Issue 2 (30th December 2021)

Authors:
Keshavan, Nandaki; Wood, Michelle; Alderson, Lucy M.; Cortina‐Borja, Mario; Skeath, Rachel; McSweeney, Mel; Dixon, Marjorie; Cleary, Maureen A.; Footitt, Emma; Batzios, Spyros
Journal:
JIMD reports
Issue:
Volume 63:Issue 2(2022)
Page Start:
123
Record Type:
Journal Article
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3. Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era. (June 2021)

Authors:
Forny, Patrick; Footitt, Emma; Davison, James E.; Lam, Amanda; Woodward, Cathy E.; Batzios, Spyros; Bhate, Sanjay; Chakrapani, Anupam; Cleary, Maureen; Gissen, Paul; Grunewald, Stephanie; Hurst, Jane A.; Scott, Richard; Heales, Simon; Jacques, Thomas S.; Cullup, Thomas; Rahman, Shamima
Journal:
Neurology
Issue:
Volume 7:Number 3(2021)
Page Start:
Record Type:
Journal Article
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5. Liver disease in infancy caused by oxysterol 7α‐hydroxylase deficiency: successful treatment with chenodeoxycholic acid. Issue 5 (22nd March 2014)

Authors:
Dai, Dongling; Mills, Philippa B.; Footitt, Emma; Gissen, Paul; McClean, Patricia; Stahlschmidt, Jens; Coupry, Isabelle; Lavie, Julie; Mochel, Fanny; Goizet, Cyril; Mizuochi, Tatsuki; Kimura, Akihiko; Nittono, Hiroshi; Schwarz, Karin; Crick, Peter J.; Wang, Yuqin; Griffiths, William J.; Clayton, ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 37:Issue 5(2014)
Page Start:
851
Record Type:
Journal Article
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6. Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay. Issue 3 (2nd March 2017)

Authors:
Reid, Emma S.; Williams, Hywel; Anderson, Glenn; Benatti, Malika; Chong, Kling; James, Chela; Ocaka, Louise; Hemingway, Cheryl; Little, Daniel; Brown, Richard; Parker, Alasdair; Holden, Simon; Footitt, Emma; Rahman, Shamima; Gissen, Paul; Mills, Philippa B.; Clayton, Peter T.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 3(2017)
Page Start:
385
Record Type:
Journal Article
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7. TRNT1 deficiency: clinical, biochemical and molecular genetic features. Issue 1 (December 2016)

Authors:
Wedatilake, Yehani; Niazi, Rojeen; Fassone, Elisa; Powell, Christopher; Pearce, Sarah; Plagnol, Vincent; Saldanha, José; Kleta, Robert; Chong, W; Footitt, Emma; Mills, Philippa; Taanman, Jan-Willem; Minczuk, Michal; Clayton, Peter; Rahman, Shamima
Journal:
Orphanet journal of rare diseases
Issue:
Volume 11:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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