1. Cognitive dysfunction and depression in Fabry disease: a systematic review. Issue 2 (16th August 2013) Authors: Bolsover, Fay E.; Murphy, Elaine; Cipolotti, Lisa; Werring, David J.; Lachmann, Robin H. Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 2(2014) Page Start: 177 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders. Issue 1 (19th June 2013) Authors: Rüegger, Corinne M.; Lindner, Martin; Ballhausen, Diana; Baumgartner, Matthias R.; Beblo, Skadi; Das, Anibh; Gautschi, Matthias; Glahn, Esther M.; Grünert, Sarah C.; Hennermann, Julia; Hochuli, Michel; Huemer, Martina; Karall, Daniela; Kölker, Stefan; Lachmann, Robin H.; Lotz‐Havla, Amelie; Mösli... Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 1(2014) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Increased resting cerebral blood flow in adult Fabry disease: MRI arterial spin labeling study. (17th April 2018) Authors: Phyu, Po; Merwick, Aine; Davagnanam, Indran; Bolsover, Fay; Jichi, Fatima; Wheeler-Kingshott, Claudia; Golay, Xavier; Hughes, Deralynn; Cipolotti, Lisa; Murphy, Elaine; Lachmann, Robin H.; Werring, David John Journal: Neurology Issue: Volume 90:Number 16(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach. (22nd November 2022) Authors: Engelen, Marc; van Ballegoij, Wouter J.C.; Mallack, Eric James; Van Haren, Keith P.; Köhler, Wolfgang; Salsano, Ettore; van Trotsenburg, A.S.P.; Mochel, Fanny; Sevin, Caroline; Regelmann, Molly O.; Tritos, Nicholas A.; Halper, Alyssa; Lachmann, Robin H.; Davison, James; Raymond, Gerald V.; Lund, ... Journal: Neurology Issue: Volume 99:Number 21(2022) Page Start: 940 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Lost in translation—Challenges in drug development for inherited metabolic diseases. Issue 3 (7th April 2022) Authors: Lachmann, Robin H.; Patterson, Marc C.; Sirrs, Sandra Journal: Journal of inherited metabolic disease Issue: Volume 45:Issue 3(2022) Page Start: 381 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months. Issue 5 (5th January 2018) Authors: Wasserstein, Melissa P.; Diaz, George A.; Lachmann, Robin H.; Jouvin, Marie‐Hélène; Nandy, Indrani; Ji, Allena J.; Puga, Ana Cristina Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 5(2018) Page Start: 829 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Outcome of adult patients with X‐linked hypophosphatemia caused by PHEX gene mutations. Issue 5 (19th February 2018) Authors: Chesher, Douglas; Oddy, Michael; Darbar, Ulpee; Sayal, Parag; Casey, Adrian; Ryan, Aidan; Sechi, Annalisa; Simister, Charlotte; Waters, Aoife; Wedatilake, Yehani; Lachmann, Robin H.; Murphy, Elaine Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 5(2018) Page Start: 865 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. The neurological and psychological phenotype of adult patients with early‐treated phenylketonuria: A systematic review. Issue 2 (12th March 2019) Authors: Burlina, Alessandro P.; Lachmann, Robin H.; Manara, Renzo; Cazzorla, Chiara; Celato, Andrea; van Spronsen, Francjan J.; Burlina, Alberto Journal: Journal of inherited metabolic disease Issue: Volume 42:Issue 2(2019) Page Start: 209 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Treating lysosomal storage disorders: What have we learnt?. Issue 1 (26th June 2019) Authors: Lachmann, Robin H. Journal: Journal of inherited metabolic disease Issue: Volume 43:Issue 1(2020) Page Start: 125 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗