Results 131 to 140 of about 45,763 (247)

Rare diseases bullet 6: Pulmonary alveolar proteinosis: clinical aspects and current concepts on pathogenesis [PDF]

, 2000
Pallav L. Shah
openalex   +1 more source

Central Dysmyelination in SSADH‐Deficient Humans and Mice

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Succinic semialdehyde dehydrogenase deficiency (SSADHD) is an inherited metabolic disorder characterized by an accumulation of γ‐aminobutyric (GABA). In addition to its synaptic role as an inhibitory neurotransmitter, GABA also plays an important role in myelination.
Itay Tokatly Latzer, Henry H. C. Lee, Edward Yang, Cesar Alves, Mariarita Bertoldi, Caitlyn Fung, Spencer V. Steele, Eren Kule, Zijie Jin, Alexander Rotenberg, Jean‐Baptiste Roullet, Phillip L. Pearl   +11 more
wiley   +1 more source

Nasal Septal Perforation: A Rare Extraintestinal Manifestation of Crohn's Disease [PDF]

, 2000
Mark D. Kriskovich, Steven M. Kelly, William D. Jackson   +2 more
openalex   +1 more source

Efgartigimod Combined With Steroid Treatment for HAM/TSP: A Case Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT HTLV‐1‐associated myelopathy/tropical spastic paraparesis (HAM/TSP) is a progressive neurological disorder with limited treatment options. We report a 54‐year‐old female with decade‐long, progressive HAM/TSP, previously refractory to rituximab, who experienced worsening spastic paraparesis and neurogenic bladder dysfunction.
Jiahui Zeng, Wotu Tian, Jingran Yang, Yanping Yang, Li Cao, Xinghua Luan   +5 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 diseases bullet 8: Organising pneumonia [PDF]

, 2000
J.F. Cordier
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

Congenital and Rare Pulmonay Vasucular Diseases [PDF]

, 2000
Young Whan Kim
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

9 Rare diseases [PDF]

, 2000

openalex   +1 more source