Results 111 to 120 of about 29,070 (238)
Treatment options for patients with Gaucher disease
Egyptian Journal of Medical Human Genetics, 2016 Gaucher disease is the most common lysosomal storage disorder due to deficiency of ß-glucocerebrosidase. Since the introduction of Ceredase in 1991, enzyme replacement therapy has been the mainstay of treatment with its major disadvantage of long life ...
Rabah M. Shawky, Solaf M. Elsayed
doaj +1 more source
World Journal of Radiology, 2014 Gaucher disease is the prototypical lysosomal storage disease. It results from the accumulation of undegraded glucosylceramide in the reticuloendothelial system of the bone marrow, spleen and liver due to deficiency of the enzyme glucocerebrosidase. This leads to hematologic, visceral and skeletal maifestions.
William L, Simpson +2 more
openaire +2 more sources
Bleeding Disorders in Children With Genetic Diseases: A Narrative Review
Acta Paediatrica, Volume 115, Issue 5, Page 1015-1024, May 2026.ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol +6 more
wiley +1 more source
Az Interferon-gamma által indukált jelátvitel mechanizmusa humán újszülöttek mononukleáris fagocitasejtjeiben = Interferon-gamma induced signaling in mononuclear phagocytes from human neonates [PDF]
, 2006 Humán újszülöttek és felnőttek mononukleáris (MN) fagocitasejtjeiben a foszforilált STAT-1 kimutatásához olyan monoclonalis antitesteket használtunk, amelyek specifikusan kötődnek a foszforilált STAT-1 molekulákhoz, de nem kötődnek a natív STAT-1 ...
Erdős, Melinda +4 more
core
Clinical and Translational Science, Volume 19, Issue 5, May 2026.ABSTRACT Clinical trials for rare diseases face a fundamental mathematical challenge that conventional randomized controlled trial (RCT) designs cannot overcome. With approximately 95% of the estimated 10,000–16,000 rare diseases lacking approved therapies, and drug development programs failing at rates exceeding 75% in non‐oncology indications, the ...
Marshall L. Summar, Janet Woodcock
wiley +1 more source
Quantification of glucosylceramide in plasma of Gaucher disease patients
Brazilian Journal of Pharmaceutical Sciences, 2010 Gaucher disease is a sphingolipidosis that leads to an accumulation of glucosylceramide. The objective of this study was to develop a methodology, based on the extraction, purification and quantification of glucosylceramide from blood plasma, for use in ...
Maria Viviane Gomes Muller +7 more
doaj +1 more source
Enfermedad de Gaucher en Argentina: un informe del Registro Internacional de Gaucher y del Grupo Argentino de Diagnóstico y Tratamiento de la Enfermedad de Gaucher [PDF]
, 2013 La Enfermedad de Gaucher por su baja frecuencia está incluida dentro de las enfermedades huérfanas. En 1991 comenzó el ingreso de pacientes en el Registro Internacional de Gaucher. En 1992 se incorporaron los primeros dos pacientes de Latinoamérica.
Angaroni, Celia Juana +25 more
core
Liver International, Volume 46, Issue 5, May 2026.ABSTRACT Background and Aims Hyperferritinemia encompasses heterogeneous genetic etiologies beyond HFE‐related hemochromatosis. Current guidelines recommend testing for rare hemochromatosis genes, yet no consensus exists on comprehensive genomic approaches.
Paul Morel +11 more
wiley +1 more source
A Computational Modeling of ADLumin Chemiluminescence: Oxygenation and Dioxetanone Formation
Journal of Computational Chemistry, Volume 47, Issue 11, 30 April 2026.Chemiluminescent ADLumin molecules were studied using DFT to investigate their mechanisms of oxygenation and dioxetanone formation. Different oxygenation sites were explored for initiating competing reaction pathways that converge to the same 1,2‐dioxetanone intermediate.
Carly Wickizer +5 more
wiley +1 more source