Translational science of rare diseases

Keyphrases

Publications

volume 6, number 1-2, 2022

Debra S Regier, Jennifer A Weaver, Nancy Cheng, Mark L Batshaw, Mary Ottolini, Michael E Shy, Marshall L Summar
The Rare Disease Research Scholars Program: A training curriculum for clinical researchers with mixed methods evaluation study. Translational science of rare diseases 6 (1-2) (2022)
Girish Hiremath, Adrian Chapa-Rodriguez, David A Katzka, Jonathan M Spergel, Benjamin Gold, Albert J Bredenoord, Evan S Dellon, Jeannie Huang, Sandeep K Gupta
Transition of care of patients with eosinophilic gastrointestinal diseases: Challenges and opportunities. Translational science of rare diseases 6 (1-2) (2022)

volume 5, number 3-4, 2021

James A Hendrix, Angelika Amon, Leonard Abbeduto, Stamatis Agiovlasitis, Tarek Alsaied, Heather A Anderson, Lisa J Bain, Nicole Baumer, Anita Bhattacharyya, Dusan Bogunovic, Kelly N Botteron, George Capone, Priya Chandan, Isabelle Chase, Brian Chicoine, Cécile Cieuta-Walti, Lara R DeRuisseau, Sophie Durand, Anna Esbensen, Juan Fortea, Sandra Giménez, Ann-Charlotte Granholm, Laura J Hahn, Elizabeth Head, Hampus Hillerstrom, Lisa M Jacola, Matthew P Janicki, Joan M Jasien, Angela R Kamer, Raymond D Kent, Bernard Khor, Jeanne B Lawrence, Catherine Lemonnier, Amy Feldman Lewanda, William Mobley, Paul E Moore, Linda Pollak Nelson, Nicolas M Oreskovic, Ricardo S Osorio, David Patterson, Sonja A Rasmussen, Roger H Reeves, Nancy Roizen, Stephanie Santoro, Stephanie L Sherman, Nasreen Talib, Ignacio E Tapia, Kyle M Walsh, Steven F Warren, A Nicole White, Guang William Wong, John S Yi
Opportunities, barriers, and recommendations in down syndrome research. Translational science of rare diseases 5 (3-4) (2021)

volume 5, number 1-2, 2020

Firas Alqarajeh, Jacklyn Omorodion, Kerri Bosfield, Natasha Shur, Carlos R Ferreira
Lysinuric protein intolerance: Pearls to detect this otherwise easily missed diagnosis. Translational science of rare diseases 5 (1-2) (2020)
Kuntal Sen, Matthew T Whitehead, Andrea L Gropman
Multimodal imaging in urea cycle-related neurological disease - What can imaging after hyperammonemia teach us? Translational science of rare diseases 5 (1-2) (2020)

volume 4, number 3-4, 2020

Ellen F Macnamara, Precilla D'Souza, null null, Cynthia J Tifft
The undiagnosed diseases program: Approach to diagnosis. Translational science of rare diseases 4 (3-4) (2020)

volume 4, number 1-2, 2019

Angela Grochowsky, Meral Gunay-Aygun
Clinical characteristics of individual organ system disease in non-motile ciliopathies. Translational science of rare diseases 4 (1-2) (2019)
Melissa A Parisi
The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. Translational science of rare diseases 4 (1-2) (2019)
Holly Yu Chen, Emily Welby, Tiansen Li, Anand Swaroop
Retinal disease in ciliopathies: Recent advances with a focus on stem cell-based therapies. Translational science of rare diseases 4 (1-2) (2019)
Margaret W Leigh, Amjad Horani, BreAnna Kinghorn, Michael G O'Connor, Maimoona A Zariwala, Michael R Knowles
Primary Ciliary Dyskinesia (PCD): A genetic disorder of motile cilia. Translational science of rare diseases 4 (1-2) (2019)

volume 3, number 1, 2018

Jennifer A F Tender, Carlos R Ferreira
Cerebro-facio-thoracic dysplasia (Pascual-Castroviejo syndrome): Identification of a novel mutation, use of facial recognition analysis, and review of the literature. Translational science of rare diseases 3 (1) (2018)
David B Beck, Kristina Cusmano-Ozog, Nickie Andescavage, Eyby Leon
Extending the phenotypic spectrum of Sengers syndrome: Congenital lactic acidosis with synthetic liver dysfunction. Translational science of rare diseases 3 (1) (2018)
Alan K Percy, Jane Lane, Fran Annese, Hannah Warren, Steven A Skinner, Jeffrey L Neul
When Rett syndrome is due to genes other than MECP2. Translational science of rare diseases 3 (1) (2018)

volume 3, number 3-4, 2018

Larissa Lapteva, Ramjay Vatsan, Tejashri Purohit-Sheth
Regenerative Medicine Therapies for Rare Diseases. Translational science of rare diseases 3 (3-4) (2018)
Nicholas Ah Mew, Avital Cnaan, Robert McCarter, Henry Choi, Penny Glass, Katie Rice, Louis Scavo, Catherine W Gillespie, George A Diaz, Gerard T Berry, Derek Wong, Laura Konczal, Shawn E McCandless, Curtis R Coughlin Ii, James D Weisfeld-Adams, Can Ficicioglu, Mark Yudkoff, Gregory M Enns, Uta Lichter-Konecki, Renata Gallagher, Mendel Tuchman
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. Translational science of rare diseases 3 (3-4) (2018)

volume 2, number 1-2, 2017

Janine Lewis, Michelle Snyder, Henrietta Hyatt-Knorr
Marking 15 years of the Genetic and Rare Diseases Information Center. Translational science of rare diseases 2 (1-2) (2017)
Carlos R Ferreira, William A Gahl
Lysosomal storage diseases. Translational science of rare diseases 2 (1-2) (2017)
Tasha Doty, Erin R Foster, Bess Marshall, Samantha Ranck, Tamara Hershey
The effects of disease-related symptoms on daily function in Wolfram Syndrome. Translational science of rare diseases 2 (1-2) (2017)

volume 2, number 3-4, 2017

Katherine Cheng, Sandeep K Gupta, Susanna Kantor, Jonathan T Kuhl, Seema S Aceves, Peter A Bonis, Kelley E Capocelli, Christina Carpenter, Mirna Chehade, Margaret H Collins, Evan S Dellon, Gary W Falk, Rashmi Gopal-Srivastava, Nirmala Gonsalves, Ikuo Hirano, Eileen C King, John Leung, Jeffrey P Krischer, Vincent A Mukkada, Alain Schoepfer, Jonathan M Spergel, Alex Straumann, Guang-Yu Yang, Glenn T Furuta, Marc E Rothenberg
Creating a multi-center rare disease consortium - the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). Translational science of rare diseases 2 (3-4) (2017)
Carlos R Ferreira, William A Gahl
Disorders of metal metabolism. Translational science of rare diseases 2 (3-4) (2017)
Marilyn Coors, Larry Bauer, Kelly Edwards, Karen Erickson, Aaron Goldenberg, John Goodale, Kenneth Goodman, Christine Grady, David Mannino, Adam Wanner, Todd Wilson, Mark Yarborough, Maryan Zirkle
Ethical issues related to clinical research and rare diseases: 15th Gordon L. Snider Critical Issues Workshop, April 1, 2016, Bethesda, Maryland. Translational science of rare diseases 2 (3-4) (2017)

volume 1, number 2, 2016

I Manoli, C P Venditti
Disorders of branched chain amino acid metabolism. Translational science of rare diseases 1 (2) (2016)
Catherine Argyriou, Maria Daniela D'Agostino, Nancy Braverman
Peroxisome biogenesis disorders. Translational science of rare diseases 1 (2) (2016)