1. Disorders affecting vitamin B6 metabolism. Issue 4 (20th March 2019) Authors: Wilson, Matthew P.; Plecko, Barbara; Mills, Philippa B.; Clayton, Peter T. Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 4(2019) Page Start: 629 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Expanding the phenotype in argininosuccinic aciduria: need for new therapies. Issue 3 (1st March 2017) Authors: Baruteau, Julien; Jameson, Elisabeth; Morris, Andrew A.; Chakrapani, Anupam; Santra, Saikat; Vijay, Suresh; Kocadag, Huriye; Beesley, Clare E.; Grunewald, Stephanie; Murphy, Elaine; Cleary, Maureen; Mundy, Helen; Abulhoul, Lara; Broomfield, Alexander; Lachmann, Robin; Rahman, Yusof; Robinson, Pet... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 3(2017) Page Start: 357 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. (1st September 2015) Authors: Mefford, Heather C.; Zemel, Matthew; Geraghty, Eileen; Cook, Joseph; Clayton, Peter T.; Paul, Karl; Plecko, Barbara; Mills, Philippa B.; Nordli, Douglas R.; Gospe, Sidney M. Journal: Neurology Issue: Volume 85:Number 9(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. 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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC‐MS/MS method. Issue 1 (11th May 2012) Authors: Footitt, Emma J.; Clayton, Peter T.; Mills, Kevin; Heales, Simon J.; Neergheen, Viruna; Oppenheim, Marcus; Mills, Philippa B. Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 1(2013) Page Start: 139 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Micronutrients: Speculation on Inborn Errors, Nutrigenomics, Evolution, the Microbiome, and Nutritional Immunity. (23rd March 2018) Authors: Clayton, Peter T.; Mills, Philippa B. Journal: Journal of inborn errors of metabolism and screening Issue: Volume 6(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences. Issue 3 (15th February 2017) Authors: Wortmann, Saskia B.; Chen, Margaret A.; Colombo, Roberto; Pontoglio, Alessandro; Alhaddad, Bader; Botto, Lorenzo D.; Yuzyuk, Tatiana; Coughlin, Curtis R.; Descartes, Maria; Grűnewald, Stephanie; Maranda, Bruno; Mills, Philippa B.; Pitt, James; Potente, Catherine; Rodenburg, Richard; Kluijtmans, L... Journal: Journal of inherited metabolic disease Issue: Volume 40:Issue 3(2017) Page Start: 423 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. 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 View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Niemann–Pick type C disease as proof‐of‐concept for intelligent biomarker panel selection in neurometabolic disorders. (14th July 2022) Authors: Papandreou, Apostolos; Doykov, Ivan; Spiewak, Justyna; Komarov, Nikita; Habermann, Stephanie; Kurian, Manju A.; Mills, Philippa B.; Mills, Kevin; Gissen, Paul; Heywood, Wendy E. Journal: Developmental medicine & child neurology Issue: Volume 64:Number 12(2022) Page Start: 1539 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. PDXK mutations cause polyneuropathy responsive to pyridoxal 5′‐phosphate supplementation. Issue 2 (1st July 2019) Authors: Chelban, Viorica; Wilson, Matthew P.; Warman Chardon, Jodi; Vandrovcova, Jana; Zanetti, M. Natalia; Zamba‐Papanicolaou, Eleni; Efthymiou, Stephanie; Pope, Simon; Conte, Maria R.; Abis, Giancarlo; Liu, Yo‐Tsen; Tribollet, Eloise; Haridy, Nourelhoda A.; Botía, Juan A.; Ryten, Mina; Nicolaou, Pascha... Other Names: Kriouile Yamna investigator.; Khorassani Mohamed El investigator.; Aguennouz Mhammed investigator.; Groppa Stanislav investigator.; Marinova Karashova Blagovesta investigator.; Van Maldergem Lionel investigator.; Nachbauer Wolfgang investigator.; Boesch Sylvia investigator.; Arning Larissa invest... Journal: Annals of neurology Issue: Volume 86:Issue 2(2019) Page Start: 225 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗