The modified compounds achieved up to a 3.01-fold enhancement in GCase activity and 11.26-fold increase in GAA activity. Specifically designed and synthesized neutral thiourea-type sp 2-iminosugars ...

HDFN incidence in neonates with blood type A or B and raised TcB levels was 6.17%. Transcutaneous bilirubin (TcB) is an effective screening tool for hyperbilirubinemia and hemolytic disease of the ...

After 1 year, participants with normal sleep patterns showed superior quality of life, fewer behavioral problems, less mental fatigue, and more physical activity. Patients with Huntington disease (HD) ...

A subgroup of patients with HD with global memory impairments, particularly consolidation deficits, showed more medial temporal lobe atrophy. Patients with Huntington disease (HD) show deficits in ...

The diagnosis and management of CIDP are complex and best addressed by an interprofessional health care team that includes neurologists, neuromuscular specialists, physical medicine and rehabilitation ...

Overall, the life expectancy of patients with SCD is lower than that of persons without SCD. 1 However, life expectancy varies depending on the type of disease, treatments administered, and ...

Individuals with advanced liver disease may also experience significant weight loss due to nausea and poor appetite. Candidates for liver transplantation may need to gain weight to optimize surgical ...

Testing for AAV is recommended in patients with hepatitis B even in the absence of liver symptoms. A patient with chronic hepatitis B infection (HBV) initially presented with antineutrophil ...

Sickle cell disease is inherited in an autosomal recessive pattern, which means that a child is born with SCD only when they inherit 2 defective copies of the sickle cell gene (1 from each parent). If ...

Test Your Knowledge About the Genetics of Chronic Lymphocytic Leukemia Test Your Knowledge About the Prognosis of Chronic Lymphocytic Leukemia Test Your Knowledge About the Diagnosis of Chronic ...

Over 80% achieved a clinically meaningful improvement in at least one of the scales assessed. Treatment with risdiplam over 30 months led to overall clinically meaningful improvement in most adult ...

Larry Luxner, senior correspondent for Rare Disease Advisor, talks with Claire Booth, MBBS, PhD, of University College London in the UK and cofounder of the AGORA Initiative, which aims to tackle the ...