1. Clinical presentation and outcome in a series of 88 patients with the cblC defect. Issue 5 (6th March 2014) Authors: Fischer, Sabine; Huemer, Martina; Baumgartner, Matthias; Deodato, Federica; Ballhausen, Diana; Boneh, Avihu; Burlina, Alberto B.; Cerone, Roberto; Garcia, Paula; Gökçay, Gülden; Grünewald, Stephanie; Häberle, Johannes; Jaeken, Jaak; Ketteridge, David; Lindner, Martin; Mandel, Hanna; Martinelli, D... Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 5(2014) Page Start: 831 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Diagnosing mucopolysaccharidosis IVA. Issue 2 (1st February 2013) Authors: Wood, Timothy C.; Harvey, Katie; Beck, Michael; Burin, Maira Graeff; Chien, Yin‐Hsiu; Church, Heather J.; D'Almeida, Vânia; van Diggelen, Otto P.; Fietz, Michael; Giugliani, Roberto; Harmatz, Paul; Hawley, Sara M.; Hwu, Wuh‐Liang; Ketteridge, David; Lukacs, Zoltan; Miller, Nicole; Pasquali, Marzi... Journal: Journal of inherited metabolic disease Issue: Volume 36:Issue 2(2013) Page Start: 293 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Expanding the spectrum of gestational alloimmune liver disease. (10th November 2021) Authors: Last, Eleanor; Ketteridge, David; Moore, David Journal: Journal of paediatrics and child health Issue: Volume 58:Number 8(2022) Page Start: 1450 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Functional assessment of the genetic findings indicating mucopolysaccharidosis type II in the prenatal setting. Issue 1 (26th March 2021) Authors: Fuller, Maria; Ketteridge, David Journal: JIMD reports Issue: Volume 60:Issue 1(2021) Page Start: 10 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome): 15-Year Follow-Up From the Survey Study. (30th January 2018) Authors: Quartel, Adrian; Harmatz, Paul R.; Lampe, Christina; Guffon, Nathalie; Ketteridge, David; Leão-Teles, Elisa; Jones, Simon A.; Giugliani, Roberto 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) ↗
6. Methionine synthase deficiency: Variable clinical presentation and benefit of early diagnosis and treatment. Issue 2 (21st October 2021) Authors: Kripps, Kimberly A.; Sremba, Leighann; Larson, Austin A.; Van Hove, Johan L.K.; Nguyen, Hoanh; Wright, Erica L.; Mirsky, David M.; Watkins, David; Rosenblatt, David S.; Ketteridge, David; Berry, Susan A.; McCandless, Shawn E.; Baker, Peter R. Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 2(2022) Page Start: 157 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux–Lamy syndrome)—10‐year follow‐up of patients who previously participated in an MPS VI survey study2. Issue 8 (24th April 2014) Authors: Giugliani, Roberto; Lampe, Christina; Guffon, Nathalie; Ketteridge, David; Leão‐Teles, Elisa; Wraith, James E.; Jones, Simon A.; Piscia‐Nichols, Cheri; Lin, Ping; Quartel, Adrian; Harmatz, Paul Journal: American journal of medical genetics Issue: Volume 164:Issue 8(2014.) Page Start: 1953 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Presentation of m.3243A>G (MT‐TL1; tRNALeu) variant with focal neurology in infancy. (20th August 2015) Authors: Mordaunt, Dylan A.; McIntyre, Liam C.; Salvemini, Hayley; Ibrahim, Afdal; Bratkovic, Drago; Ketteridge, David; Scott, Hamish S.; Kassahn, Karin S.; Smith, Nicholas Journal: American journal of medical genetics Issue: Volume 167:Number 11(2015:Nov.) Page Start: 2697 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Response to Ly Pen and Andreu: Response to: "Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis". (December 2020) Authors: Williams, Nicole; Ketteridge, David Journal: Journal of child neurology Issue: Volume 35:Number 14(2020) Page Start: 1019 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Screening for Carpal Tunnel Syndrome in Patients With Mucopolysaccharidosis. (May 2020) Authors: Patel, Prajay; Antoniou, Georgia; Clark, Damian; Ketteridge, David; Williams, Nicole Journal: Journal of child neurology Issue: Volume 35:Number 6(2020:Jun.) Page Start: 410 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗