1. Altered cerebrospinal fluid proteins in Smith–Lemli–Opitz syndrome patients. Issue 8 (5th May 2016) Authors: Cologna, Stephanie M.; Shieh, Christine; Toth, Cynthia L.; Cougnoux, Antony; Burkert, Kathryn R.; Bianconi, Simona E.; Wassif, Christopher A.; Porter, Forbes D. Journal: American journal of medical genetics Issue: Volume 170:Issue 8(2016) Page Start: 2060 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis. Issue 3 (2nd December 2022) Authors: Luckett, Amelia; Yousef, Muhammad; Tifft, Cynthia; Jenkins, Kisha; Smith, Andrew; Munoz, Andrea; Quimby, Rachel; Porter, Forbes D.; Dang Do, An Ngoc Journal: American journal of medical genetics Issue: Volume 191:Issue 3(2023) Page Start: 711 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Association of NPC1 variant p.P237S with a pathogenic splice variant in two Niemann–Pick disease type C1 patients. Issue 4 (22nd March 2017) Authors: Salman, Alexander; Cougnoux, Antony; Farhat, Nicole; Wassif, Christopher A.; Porter, Forbes D. Journal: American journal of medical genetics Issue: Volume 173:Issue 4(2017) Page Start: 1038 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Auditory phenotype of Smith–Lemli–Opitz syndrome. Issue 4 (2nd February 2021) Authors: Zalewski, Christopher K.; Sydlowski, Sarah A.; King, Kelly A.; Bianconi, Simona; Dang Do, An; Porter, Forbes D.; Brewer, Carmen C. Journal: American journal of medical genetics Issue: Volume 185:Issue 4(2021) Page Start: 1131 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Brain magnetic resonance imaging findings in smith–lemli–opitz syndrome. Issue 10 (5th August 2013) Authors: Lee, Ryan W.Y.; Conley, Sandra K.; Gropman, Andrea; Porter, Forbes D.; Baker, Eva H. Journal: American journal of medical genetics Issue: Volume 161:Issue 10(2013:Oct.) Page Start: 2407 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Characterizing upper limb function in the context of activities of daily living in CLN3 disease. Issue 5 (8th February 2021) Authors: Hildenbrand, Hanna; Wickstrom, Jordan; Parks, Rebecca; Zampieri, Cris; Nguyen, Thuy‐Tien; Thurm, Audrey; Jenkins, Kisha; Alter, Katharine E.; Matsubara, Jesse; Hammond, Dylan; Soldatos, Ariane; Porter, Forbes D.; Dang Do, An N. Journal: American journal of medical genetics Issue: Volume 185:Issue 5(2021) Page Start: 1399 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Defective platelet function in Niemann‐Pick disease type C1. Issue 1 (12th September 2020) Authors: Chen, Oscar C. W.; Colaco, Alexandria; Davis, Lianne C.; Kiskin, Fedir N.; Farhat, Nicole Y.; Speak, Anneliese O.; Smith, David A.; Morris, Lauren; Eden, Emily; Tynan, Patricia; Churchill, Grant C.; Galione, Antony; Porter, Forbes D.; Platt, Frances M. Journal: JIMD reports Issue: Volume 56:Issue 1(2020) Page Start: 46 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation. Issue 2 (3rd February 2023) Authors: Dang Do, An N.; Chang, Irene J.; Jiang, Xutian; Wolfe, Lynne A.; Ng, Bobby G.; Lam, Christina; Schnur, Rhonda E.; Allis, Katrina; Hansikova, Hana; Ondruskova, Nina; O'Connor, Shawn D.; Sanchez‐Valle, Amarilis; Vollo, Arve; Wang, Raymond Y.; Wolfenson, Zoe; Perreault, John; Ory, Daniel S.; Freeze,... Journal: Journal of inherited metabolic disease Issue: Volume 46:Issue 2(2023) Page Start: 326 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. FTY720/fingolimod increases NPC1 and NPC2 expression and reduces cholesterol and sphingolipid accumulation in Niemann‐Pick type C mutant fibroblasts. Issue 4 (12th January 2017) Authors: Newton, Jason; Hait, Nitai C.; Maceyka, Michael; Colaco, Alexandria; Maczis, Melissa; Wassif, Christopher A.; Cougnoux, Antony; Porter, Forbes D.; Milstien, Sheldon; Platt, Nicholas; Platt, Frances M.; Spiegel, Sarah Journal: FASEB journal Issue: Volume 31:Issue 4(2017) Page Start: 1719 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Hepatocellular carcinoma as a complication of Niemann‐Pick disease type C1. Issue 10 (17th June 2021) Authors: Rodriguez‐Gil, Jorge L.; Bianconi, Simona E.; Farhat, Nicole; Kleiner, David E.; Nelson, Marie; Porter, Forbes D. Journal: American journal of medical genetics Issue: Volume 185:Issue 10(2021) Page Start: 3111 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗