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Niemann-Pick Disease, Type C: Diagnosis, Management and Disease-Targeted Therapies in Development.
Berry-Kravis E. Berry-Kravis E. Semin Pediatr Neurol. 2021 Apr;37:100879. doi: 10.1016/j.spen.2021.100879. Epub 2021 Feb 12. Semin Pediatr Neurol. 2021. PMID: 33892845 Review.
Vertical supranuclear gaze palsy is a hallmark symptom, and ataxia, dysarthria, dysphagia, dystonia, cognitive decline, seizures, cataplexy, hearing loss and visceromegaly are also characteristic. Diagnosis is made by gene sequencing, metabolic measures, or more recently t …
Vertical supranuclear gaze palsy is a hallmark symptom, and ataxia, dysarthria, dysphagia, dystonia, cognitive decline, seizures, cataplexy, …
AISF update on the diagnosis and management of adult-onset lysosomal storage diseases with hepatic involvement.
Nascimbeni F, Dionisi Vici C, Vespasiani Gentilucci U, Angelico F, Nobili V, Petta S, Valenti L; AISF Rare Diseases Committee. Nascimbeni F, et al. Dig Liver Dis. 2020 Apr;52(4):359-367. doi: 10.1016/j.dld.2019.12.005. Epub 2020 Jan 2. Dig Liver Dis. 2020. PMID: 31902560 Review.
LSDs are chronic progressive multi-systemic disorders, generally presenting with visceromegaly, and involvement of the central nervous system, eyes, the skeleton, and the respiratory and cardiovascular systems. The age at onset and phenotypic expression are highly variable …
LSDs are chronic progressive multi-systemic disorders, generally presenting with visceromegaly, and involvement of the central nervou …
Management of women with Gaucher disease in the reproductive age.
Rosenbaum H. Rosenbaum H. Thromb Res. 2015 Feb;135 Suppl 1:S49-51. doi: 10.1016/S0049-3848(15)50443-X. Epub 2015 Feb 9. Thromb Res. 2015. PMID: 25903536 Review.
The characteristic feature of GD is the organ GCs infiltration compromising their function by inducing local inflammation, infarcts and fibrosis. Enzyme replacement therapy (ERT) available for over two decades improves hematological abnormalities, reverses the viscerome …
The characteristic feature of GD is the organ GCs infiltration compromising their function by inducing local inflammation, infarcts and fibr …
Potential role of zinc in the visceromegaly regression and recovery of hematological parameters during treatment of visceral leishmaniasis in children from an endemic area.
Carbone DCB, Zanoni LZG, Cônsolo FZ, Sanches SC, Reis VQD, Muller KTC, Carvalho CME, Silva MC. Carbone DCB, et al. Rev Inst Med Trop Sao Paulo. 2018;60:e50. doi: 10.1590/s1678-9946201860050. Epub 2018 Sep 13. Rev Inst Med Trop Sao Paulo. 2018. PMID: 30231161 Free PMC article.
The high toxicity of current antileishmanial drugs and the need for long-term treatment make the therapy complicated, especially in a large number of infected children. Hence, the search for new therapies must be intensified. Oral administration of the trace element …
The high toxicity of current antileishmanial drugs and the need for long-term treatment make the therapy complicated, especially in a …
Eliglustat tartrate, an orally active glucocerebroside synthase inhibitor for the potential treatment of Gaucher disease and other lysosomal storage diseases.
Cox TM. Cox TM. Curr Opin Investig Drugs. 2010 Oct;11(10):1169-81. Curr Opin Investig Drugs. 2010. PMID: 20872320 Review.
Gaucher disease is an inherited defect of lysosomal functions caused by mutations in the GBA1 gene leading to accumulation of glucocerebroside, primarily in macrophages. Gaucher disease is characterized by visceromegaly and skeletal complications, including osteoporosis an …
Gaucher disease is an inherited defect of lysosomal functions caused by mutations in the GBA1 gene leading to accumulation of glucocerebrosi …