Results 141 to 150 of about 2,119,229 (358)
Lafora Disease Masquerading as Hepatic Dysfunction [PDF]
Lafora disease is fatal intractable progressive myoclonic epilepsy. It is frequently characterized by epileptic seizures, difficulty walking, muscle spasms, and dementia in late childhood or adolescence.
Abdullah, Hafez Mohammad A.+6 more
core +1 more source
NOTCH2NLC Repeat Expansions in Parkinsonian Disorders: Clinical and Neuroimaging Characteristics
ABSTRACT Objective Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disorder caused by NOTCH2NLC GGC repeat expansions, with heterogeneous clinical manifestations, including parkinsonism. Recent studies have identified NOTCH2NLC repeat expansions in patients with Parkinson's disease (PD) and atypical parkinsonism (aPM), suggesting ...
Han‐Lin Chiang+7 more
wiley +1 more source
Liver Biopsy Findings in Children with Nutritional Dystrophy
Yuji Sato
openalex +2 more sources
LIGHT AND ELECTRON MICROSCOPIC STUDY OF BIOPSIES FROM THIRTY‐THREE HUMAN RENAL ALLOGRAFTS AND AN ISOGRAFT 13/4–21/2 YEARS AFTER TRANSPLANTATION* [PDF]
K. A. Porter+5 more
openalex +1 more source
Malignant Melanoma: To Biopsy or Not To Biopsy [PDF]
openaire +3 more sources
Long‐Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons
ABSTRACT Objectives This ongoing, open‐label extension study is evaluating the long‐term safety, tolerability, and efficacy of givinostat, a Class I and II histone deacetylase inhibitor, in patients with Duchenne muscular dystrophy (DMD). Methods The recruited patients completed one of two prior clinical studies (one Phase 2 and one Phase 3 [EPIDYS ...
Craig M. McDonald+74 more
wiley +1 more source
Bacillary Hemoglobinuria: Induction by Liver Biopsy in Naturally and Experimentally Infected Animals [PDF]
H. J. Olander+2 more
openalex +1 more source
Metabolic Consequences of Rheumatoid Arthritis
Patients with rheumatoid arthritis (RA) may have metabolic disruption, which can contribute to adverse long‐term outcomes, for multiple reasons. Patients with RA appear to have a higher risk of sarcopenia, type 1 and type 2 diabetes mellitus, metabolic syndrome, and hypertension. Systemic inflammation in RA can cause a “lipid paradox,” with reduced low‐
Stevie Barry+2 more
wiley +1 more source
Objective Lupus low disease activity state (LLDAS) is a validated treatment target in systemic lupus erythematosus (SLE) but limited studies have explored the role of LLDAS in lupus nephritis (LN). This study aims to investigate the frequency and predictors of LLDAS attainment, and its benefit on LN relapse and renal function preservation in patients ...
Chak Kwan Cheung+6 more
wiley +1 more source