Sage Journals: Discover world-class research

Open access

Review article

First published 2024

The growing research toolbox for SLC13A5 citrate transporter disorder: a rare disease with animal models,cell lines,an ongoing Natural History Study and an engaged patient advocacy organization

Tanya L. Brown, Matthew N. Bainbridge, Grit Zahn [...]

Therapeutic Advances in Rare Disease

Open access

Research article

First published 2009

Castleman's Disease: A Study of a Rare Lymphoproliferative Disorder in a University Hospital

Ibrahiem Saeed Abdul-Rahman, Ali M. Al-Amri, Khalid Qassim Ghallab

Blood & Plasma

Retricted access

Research article

First published 2016

Psychosocial impact of mast cell disorders: Pilot investigation of a rare and understudied disease

Jennifer Nicoloro-SantaBarbara, Marci Lobel, David Wolfe

Journal of Health Psychology

Retricted access

Case report

First published 2017-01

Providing Palliative Care in Rare Pediatric Diseases: A Case Series of Three Children with Congenital Disorder of Glycosylation

Amy Trowbridge, Miriam T. Stewart, Eileen Rhee [...]

Journal of Palliative Medicine

Retricted access

Research article

First published 2023-10

Methodology of a Natural History Study of a Rare Neurodevelopmental Disorder: Alternating Hemiplegia of Childhood as a Prototype Disease

Shital H. Patel, Eleni Panagiotakaki, Maria T. Papadopoulou [...]

Journal of Child Neurology

Retricted access

Review article

First published 2024-09

The Growing Role of Telerehabilitation and Teleassessment in the Management of Movement Disorders in Rare Neurological Diseases: A Scoping Review

Luigi Lavorgna, Elisabetta Maida, Carola Reinhard [...]

Telemedicine and e-Health

Free access

Review article

First published 2018-1

Developments in rare bone diseases and mineral disorders

Siobhan Bacon, Rachel Crowley

Sage Open Chronic Disease

Retricted access

Research article

First published 2012-12

Pitt-Hopkins Syndrome in a Boy With Charcot Marie Tooth Disease Type 1A: A Rare Co-occurrence of 2 Genetic Disorders

Partha S. Ghosh, Neil R. Friedman, Debabrata Ghosh

Journal of Child Neurology

Retricted access

Research article

First published 2025

Socioeconomic factors and post-traumatic stress disorder in Polish caregivers of children with rare genetic conditions

Weronika Wojtowicz, Joan Deus Yela, Albert Fornieles Deu

Journal of Health Psychology

Retricted access

Research article

First published 2019-10

A novel,hybrid,single- and multi-site clinical trial design for CLN3 disease,an ultra-rare lysosomal storage disorder

Heather R Adams, Sara Defendorf, Amy Vierhile [...]

Clinical Trials

Search results