1. A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response. Issue 18 (16th August 2017) Authors: Zhang, Wujuan; Oehrle, Melissa; Prada, Carlos E.; Schwartz, Ida Vanessa D.; Chutipongtanate, Somchai; Wattanasirichaigoon, Duangrurdee; Inskeep, Venette; Dai, Mei; Pan, Dao; Sun, Ying; Setchell, Kenneth D. R. Journal: Analyst Issue: Volume 142:Issue 18(2017) Page Start: 3380 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females. Issue 3 (24th December 2020) Authors: Clarkston, Kathryn; Lee, Joy; Donoghue, Sarah; Peters, Heidi; Eiroa, Hernan; Shah, Amit A.; Loomes, Kathleen; Wen, Jessica; Oliver, Mark; Hardikar, Winita; Prada, Carlos E.; Asai, Akihiro Journal: American journal of medical genetics Issue: Volume 185:Issue 3(2021) Page Start: 909 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An international telemedicine program for diagnosis of genetic disorders: Partnership of pediatrician and geneticist. Issue 4 (21st November 2020) Authors: Mena, Rafael; Mendoza, Esperanza; Gomez Peña, Maria; Valencia, C. Alexander; Ullah, Ehsan; Hufnagel, Robert B.; Prada, Carlos E. Other Names: Prada Carlos E guestEditor.; Schwartz Ida guestEditor.; Cavalcanti Denise guestEditor.; Zarate Yuri A guestEditor. Journal: American journal of medical genetics Issue: Volume 184:Issue 4(2020) Page Start: 996 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical and molecular analysis of 26 individuals with Noonan syndrome in a reference institution in Colombia. Issue 4 (10th December 2020) Authors: Lores, Juliana; Prada, Carlos E.; Ramírez‐Montaño, Diana; Nastasi‐Catanese, José A.; Pachajoa, Harry Other Names: Prada Carlos E guestEditor.; Schwartz Ida guestEditor.; Cavalcanti Denise guestEditor.; Zarate Yuri A guestEditor. Journal: American journal of medical genetics Issue: Volume 184:Issue 4(2020) Page Start: 1042 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Craniosynostosis is a feature of Costello syndrome. Issue 4 (28th December 2021) Authors: Weaver, K. Nicole; Care, Marguerite; Wakefield, Emily; Zarate, Yuri A.; Skoch, Jesse; Gripp, Karen W.; Prada, Carlos E. Journal: American journal of medical genetics Issue: Volume 188:Issue 4(2022) Page Start: 1280 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Early Spinal Cord and Brainstem Involvement in Infantile Leigh Syndrome Possibly Caused by a Novel Variant. (December 2013) Authors: Tenney, Jeffrey R.; Prada, Carlos E.; Hopkin, Robert J.; Hallinan, Barbara E. Journal: Journal of child neurology Issue: Volume 28:Number 12(2013) Page Start: 1681 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Everolimus for severe arrhythmias in tuberous sclerosis complex related cardiac rhabdomyomas. Issue 5 (16th February 2021) Authors: Silva‐Sánchez, María P.; Alvarado‐Socarras, Jorge L.; Castro‐Monsalve, Javier; Meneses, Keyla Milena; Santiago, Justo; Prada, Carlos E. Journal: American journal of medical genetics Issue: Volume 185:Issue 5(2021) Page Start: 1525 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Globus pallidus involvement as initial presentation of methylmalonic acidemia. Issue 7 (21st April 2014) Authors: Prada, Carlos E.; Villamizar‐Schiller, Ives T. Journal: Movement disorders Issue: Volume 29:Issue 7(2014) Page Start: 870 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Introduction to the special issue on Clinical Genetics in Latin America. Issue 4 (22nd December 2020) Authors: Prada, Carlos E.; Cavalcanti, Denise; Schwartz, Ida Vanessa Doederlein; Zarate, Yuri A. Other Names: Prada Carlos E guestEditor.; Schwartz Ida guestEditor.; Cavalcanti Denise guestEditor.; Zarate Yuri A guestEditor. Journal: American journal of medical genetics Issue: Volume 184:Issue 4(2020) Page Start: 873 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Neuronopathic lysosomal storage diseases: Clinical and pathologic findings. Issue 3 (24th June 2013) Authors: Prada, Carlos E.; Grabowski, Gregory A.; Arnold, Georgianne L.; Vockley, Jerry Journal: Developmental disabilities research reviews Issue: Volume 17:Issue 3(2013:Jun.) Page Start: 226 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗