Results 181 to 190 of about 11,580,920 (364)

9 Rare diseases [PDF]

, 2000

openalex   +1 more source

Clinical Characteristics of Parkinsonism in HTLV‐1‐Associated Myelopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Human T‐lymphotropic virus type 1 (HTLV‐1)‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is the classic neurological manifestation of HTLV‐1 infection; however, this virus has also been associated with other neurological disorders. Concurrent parkinsonism is relatively rare and presents diagnostic challenges.
Mika Dozono, Satoshi Nozuma, Shota Hirakata, Takashi Yoshida, Daisuke Kodama, Masakazu Tanaka, Eiji Matsuura, Ryuji Kubota, Hiroshi Takashima   +8 more
wiley   +1 more source

Synthesis of beta-hexosaminidase in cell-free translation and in intact fibroblasts: an insoluble precursor alpha chain in a rare form of Tay-Sachs disease.

, 1982
Richard L. Proia, Elizabeth F. Neufeld
openalex   +1 more source

Sampling to Detect Rare Diseases [PDF]

, 2001
Preben Willeberg
openalex   +1 more source

Remaining Burden of Spinal Muscular Atrophy Among Treated Patients: A Survey of Patients and Caregivers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal muscular atrophy (SMA) significantly impacts motor function. This study aimed to assess the persistent burden and unmet needs among currently treated patients with SMA and their caregivers. Methods Two complementary web‐based surveys were distributed in August 2024 among patients with SMA and their caregivers.
Julie A. Parsons, Natalie Land, Melissa Culhane Maravic, Claire Cagle, Amal Jamaleddine, Hemal Shah, Thomas Brown, Christabella Cherubino, Mouhamed Gueye   +8 more
wiley   +1 more source

Risks and Prevention of Nosocomial Transmission of Rare Zoonotic Diseases [PDF]

, 2001
Robert A. Weinstein, David J. Weber, William A. Rutala   +2 more
openalex   +1 more source

Risk of Hepatotoxicity in Patients With Gout Treated With Febuxostat or Benzbromarone: A Propensity Score–Matched Cohort Study

Arthritis Care &Research, EarlyView.
Objective The objective of this study was to evaluate and compare the risk of hepatotoxicity associated with the use of febuxostat and benzbromarone in patients with gout. Methods New users of febuxostat or benzbromarone with monitoring of liver function at least three times in a year after initiation of the study drugs were identified from an ...
Wenyan Sun, Lingling Cui, Robert Terkeltaub, Ying Chen, Xinde Li, Xiaoyu Cheng, Tian Liu, Nicola Dalbeth, Changgui Li   +8 more
wiley   +1 more source

A rare presentation of a common disease [PDF]

, 2001
H. Patel, K S Hindle, George Tsavellas, Andy Huang   +3 more
openalex   +2 more sources

Rare disease surveillance: An international perspective [PDF]

, 2001
Elizabeth Elliott, A Nicoll, Richard Lynn, V. Marchessault, Remy A. Hirasing, GF Ridley   +5 more
openalex   +1 more source

Colchicine Concentrations and Relationship With Colchicine Efficacy and Adverse Events: Post Hoc Analysis of a Randomized Clinical Trial of Colchicine for Gout Flare Prophylaxis

Arthritis Care &Research, EarlyView.
Objective Our objective was to examine the relationship between colchicine plasma concentrations and clinical and demographic factors and to determine the relationship between colchicine concentrations and colchicine efficacy and colchicine‐specific adverse events.
Lisa K. Stamp, Anne Horne, Borislav Mihov, Jill Drake, Janine Haslett, Peter Chapman, Daniel F. B. Wright, Christopher Frampton, Nicola Dalbeth   +8 more
wiley   +1 more source