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Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease.
Ann Neurol
December 2024
Department of Neurology, Columbia University Irving Medical Center, New York, NY.
Objective: Mitochondrial DNA (mtDNA) depletion/deletions syndrome (MDDS) comprises a group of diseases caused by primary autosomal defects of mtDNA maintenance. Our objective was to study the etiology of MDDS in 4 patients who lack pathogenic variants in known genetic causes.
Methods: Whole exome sequencing of the probands was performed to identify pathogenic variants.
Forodesine maintenance therapy for newly diagnosed peripheral T-cell lymphoma: a single-institutional, observational, retrospective analysis.
Ann Hematol
October 2022
Department of Hematology, Kyorin University School of Medicine, Tokyo, Japan.
Forodesine in the treatment of cutaneous T-cell lymphoma.
Expert Opin Investig Drugs
June 2017
b Department of Dermatology , The University of Texas MD Anderson Cancer Center, Houston , TX , USA.
Cutaneous T-cell lymphoma (CTCL) is characterized by the accumulation of neoplastic CD4+ T lymphocytes in the skin. Given the lack of curative treatments for CTCL, there is a significant need for new, superior therapies. Forodesine is a transition-state analogue that inhibits purine nucleoside phosphorylase.
View Article and Find Full Text PDFSystemic monotherapy vs combination therapy for CTCL: rationale and future strategies.
Oncology (Williston Park)
February 2007
Department of Dermatology, The University of Texas, M.D. Anderson Cancer Center, Houston, Texas 77030, USA.
There are few approved therapies for cutaneous T-cell lymphoma (CTCL). The retinoids are the major biologic response modifiers used in CTCL, producing good response rates but few complete responses. For patients with early-stage disease, the oral retinoids can be combined with other therapies, such as psoralen plus ultraviolet A or interferon alpha, to improve response rates.
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