Gaucher's disease
View article: Cardiac involvement in type 3 Gaucher disease: a case report
Cardiac involvement in type 3 Gaucher disease: a case report Open
Introduction Gaucher disease (GD) is part of the rare inherited metabolic disorder, being one of the most common lysosomal storage disorders. It is caused by a deficiency in B-glucocerebrosidase enzyme activity, which leads to the accumula…
View article: Monoclonal gammopathy in patients with type I gaucher disease: Data from the Russian gaucher registry
Monoclonal gammopathy in patients with type I gaucher disease: Data from the Russian gaucher registry Open
Background Gaucher disease (GD), a lysosomal storage disorder caused by deficient glucocerebrosidase activity, is associated with polyclonal and monoclonal gammopathies. This results from chronic B-lymphocyte stimulation by macrophage-deri…
View article: Enzyme Activity-BasedGenome-wide Screening for Modifiersof Lysosomal Glucocerebrosidase Uncovers Candidate Risk Factors forParkinson’s Disease
Enzyme Activity-BasedGenome-wide Screening for Modifiersof Lysosomal Glucocerebrosidase Uncovers Candidate Risk Factors forParkinson’s Disease Open
Mutations in GBA1, the gene encoding the lysosomal hydrolase glucocerebrosidase (GCase), are the strongest common genetic risk factor for Parkinson’s Disease (PD). However, these mutations are incompletely penetrant, which suggests …
View article: Clinical features and infection risks of Chinese children with different types of Gaucher disease
Clinical features and infection risks of Chinese children with different types of Gaucher disease Open
Background Gaucher disease (GD) is a rare autosomal recessive disorder caused by mutations in the glucocerebrosidase1 ( GBA1 ) gene. Reports on the clinical presentations of various types of GD in Chinese children are scarce, and there is …
View article: Enzyme Activity-BasedGenome-wide Screening for Modifiersof Lysosomal Glucocerebrosidase Uncovers Candidate Risk Factors forParkinson’s Disease
Enzyme Activity-BasedGenome-wide Screening for Modifiersof Lysosomal Glucocerebrosidase Uncovers Candidate Risk Factors forParkinson’s Disease Open
Mutations in GBA1, the gene encoding the lysosomal hydrolase glucocerebrosidase (GCase), are the strongest common genetic risk factor for Parkinson’s Disease (PD). However, these mutations are incompletely penetrant, which suggests …
View article: Enzyme Activity-BasedGenome-wide Screening for Modifiersof Lysosomal Glucocerebrosidase Uncovers Candidate Risk Factors forParkinson’s Disease
Enzyme Activity-BasedGenome-wide Screening for Modifiersof Lysosomal Glucocerebrosidase Uncovers Candidate Risk Factors forParkinson’s Disease Open
Mutations in GBA1, the gene encoding the lysosomal hydrolase glucocerebrosidase (GCase), are the strongest common genetic risk factor for Parkinson’s Disease (PD). However, these mutations are incompletely penetrant, which suggests …
View article: Applying the Efficiency Frontier to Inform Value-Based Pricing for Gaucher Disease Therapies in Brazil
Applying the Efficiency Frontier to Inform Value-Based Pricing for Gaucher Disease Therapies in Brazil Open
View article: Prenatal Diagnosis and Genetic Analysis of a Perinatal Lethal Case of Gaucher Disease Type II: A Case Report
Prenatal Diagnosis and Genetic Analysis of a Perinatal Lethal Case of Gaucher Disease Type II: A Case Report Open
View article: Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report
Diagnosis and genetic analysis of Gaucher disease in a pediatric case: a case report Open
A 2-year-old patient was admitted to our hospital with hepatosplenomegaly as the prominent clinical feature. Peripheral blood analysis during hospitalization revealed trilineage cytopenia. Bone marrow cytology examination demonstrated abun…
View article: Gaucher's disease - a review of the most important information about the disease in Paediatrics
Gaucher's disease - a review of the most important information about the disease in Paediatrics Open
Gaucher disease is an autosomal recessive spirochete disease caused by a deficiency of the enzyme glucocerebrosidase. A mutation in the GBA1 gene induces the accumulation of abnormal products in macrophages resulting in the transformation …
View article: Data Sheet 1_Age-related inflammatory biomarkers in early-onset osteoporosis in females with Gaucher disease.docx
Data Sheet 1_Age-related inflammatory biomarkers in early-onset osteoporosis in females with Gaucher disease.docx Open
Gaucher disease (GD), the most common lysosomal disorder, is caused by a deficiency of the enzyme glucocerebrosidase (GCase). Accumulation of the substrate, glycosylceramide (Gb-1), and its lysosomal derivative, glucosylsphingosine, Lyso-G…
View article: Analysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening Program
Analysis of the Effect of Demographic Variables on Lysosomal Enzyme Activities in the Missouri Newborn Screening Program Open
Newborn screening laboratories are increasingly adding lysosomal storage disorders (LSDs), such as Mucopolysaccharidosis I (MPS I) and Pompe disease, to their screening panels. Without newborn screening, LSDs are frequently diagnosed only …
View article: Female Toddler Presenting with Suspected Gaucher Disease: A Rare Case Report
Female Toddler Presenting with Suspected Gaucher Disease: A Rare Case Report Open
Gaucher disease is a rare metabolism disease caused by a mutation of the glucocerebrosidase (GBA1) gene. The mutation causes an accumulation of glucocerebroside lipids (glycolipid glucocerebroside), which are harmful to the body. The accum…
View article: POS1426 BONE INVOLVEMENT IN GAUCHER DISEASE: DATA FROM THE TUNISIAN REGISTRY
POS1426 BONE INVOLVEMENT IN GAUCHER DISEASE: DATA FROM THE TUNISIAN REGISTRY Open
View article: Sphingolipid de novo synthesis is upregulated in a macrophage model of Gaucher disease
Sphingolipid de novo synthesis is upregulated in a macrophage model of Gaucher disease Open
Gaucher disease (GD) is an inborn error of sphingolipid metabolism characterised by a block in the lysosomal degradation of glucosylceramide (GlcCer), which consequently accumulates in the lysosomes of affected cells. The product of GlcCer…
View article: Identification of Novel Mutations in Patients Affected by Gaucher Disease
Identification of Novel Mutations in Patients Affected by Gaucher Disease Open
Gaucher disease is an autosomal recessive disorder caused by dysfunction of the enzyme glucocerebrosidase. The enzyme deficiency is mainly due to mutations in the GBA1 gene, and it is responsible for the accumulation of glucosylceramide wi…
View article: Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon
Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon Open
In October 2018, the Oregon newborn screening program began screening for four lysosomal storage disorders (LSDs) Pompe, Mucopolysaccharidosis Type I (MPSI), Gaucher, and Fabry. The laboratory used two different methodologies, digital micr…
View article: A novel mouse model of chronic neuronopathic Gaucher disease exhibits Parkinson's disease-like phenotypes
A novel mouse model of chronic neuronopathic Gaucher disease exhibits Parkinson's disease-like phenotypes Open
Gaucher disease (GD), the most common lysosomal storage disorder, is an autosomal recessive inherited disease caused by mutations in GBA1. It can be categorized into neuronopathic and non-neuronopathic types. We previously constructed mous…
View article: Cultured Macrophage Models for the Investigation of Lysosomal Glucocerebrosidase and Gaucher Disease
Cultured Macrophage Models for the Investigation of Lysosomal Glucocerebrosidase and Gaucher Disease Open
Macrophages are specialised cells that degrade a range of substrates during their lifetime. In inherited lysosomal storage disorders, particularly the sphingolipidoses, macrophages transform into storage cells and contribute to pathology. …
View article: Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure
Case Report: Diagnosis of Gaucher disease in a toddler with acute respiratory failure Open
A 22-month-old male infant presented with cyanosis and stridor after a trivial fall and then developed acute respiratory distress. The respiratory status of the patient progressed rapidly to severe acute respiratory distress syndrome. Addi…
View article: AAV-mediated GBA1 and GDNF rescue neurological defects in a murine model of neuronopathic Gaucher disease
AAV-mediated GBA1 and GDNF rescue neurological defects in a murine model of neuronopathic Gaucher disease Open
View article: The Diagnosis and Therapy of Osteoporosis in Gaucher Disease
The Diagnosis and Therapy of Osteoporosis in Gaucher Disease Open
View article: Supplementary Material for: Perinatal-onset neuronopathic Gaucher disease is refractory to high-dose ambroxol: A case report and literature review
Supplementary Material for: Perinatal-onset neuronopathic Gaucher disease is refractory to high-dose ambroxol: A case report and literature review Open
Introduction: High-dose ambroxol is an effective pharmacological chaperone therapy for the systemic and neurological symptoms of Gaucher disease (GD). However, no clinical evidence of perinatal-onset GD has been documented. Case presentati…
View article: Five Years of Newborn Screening for Pompe, Mucopolysaccharidosis Type I, Gaucher, and Fabry Diseases in Oregon
Five Years of Newborn Screening for Pompe, Mucopolysaccharidosis Type I, Gaucher, and Fabry Diseases in Oregon Open
View article: Supplementary Material for: Perinatal-onset neuronopathic Gaucher disease is refractory to high-dose ambroxol: A case report and literature review
Supplementary Material for: Perinatal-onset neuronopathic Gaucher disease is refractory to high-dose ambroxol: A case report and literature review Open
Introduction: High-dose ambroxol is an effective pharmacological chaperone therapy for the systemic and neurological symptoms of Gaucher disease (GD). However, no clinical evidence of perinatal-onset GD has been documented. Case presentati…
View article: An Overview of Gaucher Disease
An Overview of Gaucher Disease Open
Background: Gaucher disease (GD) is a rare autosomal recessive disorder caused by mutations in the GBA1 gene that lead to a deficiency in the glucocerebrosidase gene. This deficiency results in the accumulation of glucocerebrosides in macr…
View article: Different and unusual presentation of Gaucher’s disease with the same mutation in the glucocerebrosidase enzyme (F266L) in two patients: a case report
Different and unusual presentation of Gaucher’s disease with the same mutation in the glucocerebrosidase enzyme (F266L) in two patients: a case report Open
View article: Pediatric Gaucher Disease with Secondary Malnutrition (Kwashiorkor)
Pediatric Gaucher Disease with Secondary Malnutrition (Kwashiorkor) Open
Gaucher disease (GD) is a rare lysosomal storage disorder caused by mutations in the GBA gene (Smith et al., 2017). It results in glucocerebrosidase deficiency, leading to the accumulation of glucocerebrosides in macrophages, causing syste…
View article: Challenging clinical management of a patient with Gaucher disease type IIIC homozygous for the D409H mutation, aortic valve calcification and porcelain aorta
Challenging clinical management of a patient with Gaucher disease type IIIC homozygous for the D409H mutation, aortic valve calcification and porcelain aorta Open
Background. Gaucher disease is a rare lysosomal storage disorder caused by glucocerebrosidase enzyme deficiency resulting in the cumulative deposition of glucocerebroside in macrophages, predominantly effecting bone marrow, liver and splee…
View article: Diet, β-glucocerebrosidase deficiency, and Parkinson’s disease
Diet, β-glucocerebrosidase deficiency, and Parkinson’s disease Open