1. 15.09 Inherited peripheral neuropathies: analysis of PDXK gene identifies a new treatable disorder. Issue 12 (14th November 2019) Authors: Chelban, Viorica; Wilson, Matthew P; Chardon, Jodi Warman; Vandrovcova, Jana; Natalia Zanetti, M; 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, Paschalis; ... Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 90:Issue 12(2019) Page Start: e4 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A preterm neonate with seizures unresponsive to conventional treatment. (14th May 2015) Authors: Raimondi, Francesco; Mills, Philippa; Clayton, Peter T; Del Giudice, Ennio Journal: BMJ case reports Issue: Volume 2015 Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An inborn error of bile acid synthesis (3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency) presenting as malabsorption leading to rickets. Issue 5 (1st May 1999) Authors: Akobeng, Anthony K; Clayton, Peter T; Miller, Victor; Super, Maurice; Thomas, Adrian G Journal: Archives of disease in childhood Issue: Volume 80:Issue 5(1999) Page Start: 463 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Disorders of cholesterol biosynthesis. Issue 2 (1st February 1998) Authors: Clayton, Peter T Journal: Archives of disease in childhood Issue: Volume 78:Issue 2(1998) Page Start: 185 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. Issue 9 (20th July 2010) Authors: Ebberink, Merel S; Csanyi, Barbara; Chong, Wui K; Denis, Simone; Sharp, Peter; Mooijer, Petra A W; Dekker, Conny J M; Spooner, Claire; Ngu, Lock H; De Sousa, Carlos; Wanders, Ronald J A; Fietz, Michael J; Clayton, Peter T; Waterham, Hans R; Ferdinandusse, Sacha Journal: Journal of medical genetics Issue: Volume 47:Issue 9(2010) Page Start: 608 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. Issue 5 (1st May 1999) Authors: Wilson, Callum J; Champion, Michael P; Collins, Jane E; Clayton, Peter T; Leonard, James V Journal: Archives of disease in childhood Issue: Volume 80:Issue 5(1999) Page Start: 459 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Quality and stability of extemporaneous pyridoxal phosphate preparations used in the treatment of paediatric epilepsy. (21st February 2017) Authors: Mohamed-Ahmed, Abeer H A; Wilson, Matthew P; Albuera, Maedelyn; Chen, Ting; Mills, Philippa B; Footitt, Emma J; Clayton, Peter T; Tuleu, Catherine Journal: Journal of pharmacy and pharmacology Issue: Volume 69:Number 4(2017:Apr.) Page Start: 480 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Quantitative Charge-Tags for Sterol and Oxysterol Analysis. (6th January 2020) Authors: Crick, Peter J; William Bentley, T; Abdel-Khalik, Jonas; Matthews, Ian; Clayton, Peter T; Morris, Andrew A; Bigger, Brian W; Zerbinati, Chiara; Tritapepe, Luigi; Iuliano, Luigi; Wang, Yuqin; Griffiths, William J Journal: Clinical chemistry Issue: Volume 61:Number 2(2015) Page Start: 400 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry. Issue 2 (1st August 1998) Authors: Clayton, Peter T; Doig, Mira; Ghafari, Soudabeh; Meaney, Cathy; Taylor, Catherine; Leonard, James V; Morris, Michael; Johnson, Andrew W Journal: Archives of disease in childhood Issue: Volume 79:Issue 2(1998) Page Start: 109 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Screening of newborn infants for cholestatic hepatobiliary disease with tandem mass spectrometry. Issue 7208 (21st August 1999) Authors: Mushtaq, Imran; Logan, Stuart; Morris, Michael; Johnson, Andrew W; Wade, Angie M; Kelly, Deirdre; Clayton, Peter T Journal: BMJ Issue: Volume 319:Issue 7208(1999) Page Start: 471 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗