Gaucher disease
SaudiVarKB evidence summary derived from retained literature mentions.
22Phenotype mentions
22Publications
5Associated gene records
5Associated variant records
Associated gene records
Co-mentioned in the same publicationsAssociated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| N370S | N370S | 2 | 2 |
| L444P | L444P | 2 | 2 |
| c.1076A>C | c.1076A>C | 1 | 1 |
| p.Glu359Ala | p.Glu359Ala | 1 | 1 |
| D409H | D409H | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Population record | — | 2 | 2 |
| Population record | Cohort 1 | 2 | 2 |
| Saudi Arabia | — | 1 | 1 |
| Population record | Cohort 19 | 1 | 1 |
| Population record | Cohort 25 | 1 | 1 |
| Population record | Cohort 1,344 | 1 | 1 |
| Saudi Arabia | Cohort 78 | 1 | 1 |
| Saudi Arabia | Cohort 7 | 1 | 1 |
| Saudi Arabia | Cohort 125 | 1 | 1 |
Supporting publications
22 records- 2024Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease.Parkinsonism & related disorders1 mentions
- 2022Quantitation of a plasma biomarker profile for the early detection of Gaucher disease type 1 patients.Bioanalysis1 mentions
- 2022Upregulation of Cytotoxic T-cells in pediatric patients with Gaucher disease.Scientific reports1 mentions
- 2022Metabolomic Study Using Time-of-Flight Mass Spectrometry Reveals Novel Urinary Biomarkers for Gaucher Disease Type 1.Journal of proteome research1 mentions
- 2022Dynamic coupling of residues within proteins as a mechanistic foundation of many enigmatic pathogenic missense variants.PLoS computational biology1 mentions
- 2022Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani Family.Genes1 mentions
- 2021Dendritic cells and monocyte subsets in children with Gaucher disease.Pediatric research1 mentions
- 2021Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma.Molecular genetics and metabolism1 mentions
- 2020Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach.International journal of molecular sciences1 mentions
- 2019A comparative computational approach toward pharmacological chaperones (NN-DNJ and ambroxol) on N370S and L444P mutations causing Gaucher's disease.Advances in protein chemistry and structural biology1 mentions
- 2019Concurrent juvenile myelomonocytic leukemia with thalassemia in a case with Plasmodium knowlesi infection from Sabah, Malaysian Borneo.Hematology reports1 mentions
- 2018Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review.JIMD reports1 mentions
- 2018A Saudi Infant with Vici Syndrome: Case Report and Literature Review.Open access Macedonian journal of medical sciences1 mentions
- 2016Gaucher disease in a patient with focal segmental glomerulosclerosis.Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia1 mentions
- 2015Gaucher disease. Unusual presentation and mini-review.Neurosciences (Riyadh, Saudi Arabia)1 mentions
- 2015Gaucher disease in Syrian children: common mutations identification, and clinical futures.Annals of Saudi medicine1 mentions
- 2011Human metapneumovirus and human coronavirus infection and pathogenicity in Saudi children hospitalized with acute respiratory illness.Annals of Saudi medicine1 mentions
- 2010Munchausen syndrome by proxy mimicking as Gaucher disease.European journal of pediatrics1 mentions
- 2009The Erlenmeyer flask bone deformity in the skeletal dysplasias.American journal of medical genetics. Part A1 mentions
- 2008Identification of Gaucher disease mutations found in Saudi Arabia.Blood cells, molecules & diseases1 mentions
- 2000Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC).Neurology1 mentions
- 1990Prevalence of different types of lysosomal storage diseases in Saudi Arabia.Journal of inherited metabolic disease1 mentions