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Therapeutic Advances in Rare Disease|October 9, 2024
Erratum to "Patient-advocate-led global coalition adapting fit-for-purpose outcomes measures to assure meaningful inclusion of DEEs in clinical trials"
Therapeutic Advances in Rare Disease|October 9, 2024
SLC6A1 patient & organization perspective: founding of SLC6A1 connect, research, and ongoing effortsJacob Tiller, Melissa B DeLeeuw, Jing-Qiong Kang, et al.
Therapeutic Advances in Rare Disease|March 10, 2026
Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathiesEvelyn M Elizondo, Anne M Floyd, Allison M H Foy, et al.
Therapeutic Advances in Rare Disease|March 26, 2026
Reliability assessment using the test-retest method and minimal important changes in the Adult Fabry Disease Quality of Life ScaleYuta Koto, Masami Tanaka, Mitsuyo Ishiura, et al.
Therapeutic Advances in Rare Disease|August 28, 2026
Interim analysis of an international multi-site prospective natural history study evaluating the clinical presentation and progression of Leigh syndrome spectrum disordersLaura E MacMullen, Katelynn D Stanley, John Christodoulou, et al.
Therapeutic Advances in Rare Disease|January 9, 2025
Hemophagocytic lymphohistiocytosis as the initial manifestation of bone marrow failure in a child with a TERC variant telomere biology disorderDaniel Medina-Neira, Giancarlo Alvarado-Gamarra, Brenda Huamaní-Condori, et al.
Therapeutic Advances in Rare Disease|December 31, 2024
WITHDRAWAL - An inborn error of metabolism presenting with apparently isolated subacute neuropsychiatric symptoms in an adolescent
Therapeutic Advances in Rare Disease|December 18, 2024
Count Me In: patient-partnered research to address disparities for rare cancer patientsPriyanka Bhakhri, Kolbe Phelps, Jorge Gómez Tejeda Zañudo, et al.
Therapeutic Advances in Rare Disease|September 4, 2023
Case report on the use of canakinumab for treatment of recurrent fevers and proteinuria in refractory systemic lupus erythematosusKimia Yavari, Joseph Grisanti
Therapeutic Advances in Rare Disease|August 2, 2023
The IRDiRC Chrysalis Task Force: making rare disease research attractive to companiesKatherine L Beaverson, Daria Julkowska, Mary Catherine V Letinturier, et al.
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