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Gaucher disease
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Publications and studies (1229)
- A comprehensive monocentric ophthalmic study with Gaucher disease type 3 patients: vitreoretinal lesions, retinal atrophy and characterization of abnormal saccades. (2019/11/14) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A case of motor neuron involvement in Gaucher disease. (2019/11/12) ♡
- Reduced sphingolipid hydrolase activities, substrate accumulation and ganglioside decline in Parkinson's disease. (2019/11/08) ♡
- GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry. (2019/11/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Pulmonary Thrombosis: A Clinical Pathological Entity Distinct from Pulmonary Embolism? (2019/11/01) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Role of β-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish. (2019/11/01) ♡
- Twenty-five years of biochemical diagnosis of Gaucher disease: the Egyptian experience. (2019/11/01) ♡
- Comprehensive clinical, biochemical and genetic screening reveals four distinct GBA genotypes as underlying variable manifestation of Gaucher disease in a single family. (2019/10/26) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Polyneuropathy in Gaucher disease type 1 and 3 - a descriptive case series. (2019/10/25) ♡
- mTOR hyperactivity mediates lysosomal dysfunction in Gaucher's disease iPSC-neuronal cells. (2019/10/16) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease. (2019/10/15) ♡
- Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease. (2019/10/11) ♡
- Age-related neurochemical and behavioural changes in D409V/WT GBA1 mouse: Relevance to lewy body dementia. (2019/10/01) ♡
- Hyperimmunoglobulinemia and IgG Subclass Abnormalities in Children With Gaucher Disease. (2019/10/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Huge Splenomegaly with Pancytopenia Due to Gaucher's Disease in a 22 Years Old Woman. (2019/10/01) ♡
- Mixing brain cerebrosides with brain ceramides, cholesterol and phospholipids. (2019/09/16) ♡
- Clinical features and genetic manifestations of two families with Gaucher's disease. (2019/09/14) ♡
- Laboratory or animal researchiNo research in humans yet. Promising in a test tube or in mice unfortunately means nothing for patients. Drosophila melanogaster Mutated in its GBA1b Ortholog Recapitulates Neuronopathic Gaucher Disease. (2019/09/09) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Biomedical Implications of Autophagy in Macromolecule Storage Disorders. (2019/09/06) ♡
- Measuring disease activity and patient experience remotely using wearable technology and a mobile phone app: outcomes from a pilot study in Gaucher disease. (2019/09/05) ♡
- Plasma FGF-21 and GDF-15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders. (2019/09/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Can GBA1-Associated Parkinson Disease Be Modeled in the Mouse? (2019/09/01) ♡
- Aberrant progranulin, YKL-40, cathepsin D and cathepsin S in Gaucher disease. (2019/09/01) ♡
- Mutations, modifiers and epigenetics in Gaucher disease: Blurred boundaries between simple and complex disorders. (2019/09/01) ♡
- Coagulation Parameters in Adult Patients With Type-1 Gaucher Disease. (2019/09/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Glucocerebrosidase and its relevance to Parkinson disease. (2019/08/29) ♡
- Measurement of Chitinase Activity in Biological Samples. (2019/08/22) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A case report of eight-year follow-up after splenectomy for Gaucher disease. (2019/08/20) ♡
- An algorithm as a diagnostic tool for central ocular motor disorders, also to diagnose rare disorders. (2019/08/08) ♡
- Generation of three human induced pluripotent stem cell (hiPSC) lines derived from one Gaucher disease patient with Parkinson's disease and two unrelated Parkinson's disease patients with GBA mutations. (2019/08/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A case of bony lytic lesions in a patient with Gaucher disease. (2019/07/28) ♡
- Gaucher disease type 1 first recognized in an elderly patient with thrombocytopenia and lung adenocarcinoma. (2019/07/28) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Lipid and immune abnormalities causing age-dependent neurodegeneration and Parkinson's disease. (2019/07/22) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Beta Thalassemia Major with Gaucher's Disease: A Rare Entity. (2019/07/20) ♡
- Enzyme replacement therapy in adult patients with type I Gaucher disease. (2019/07/15) ♡
- Iminosugars: Effects of Stereochemistry, Ring Size, and N-Substituents on Glucosidase Activities. (2019/07/12) ♡
- Very rare condition of multiple Gaucheroma: A case report and review of the literature. (2019/07/12) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement. (2019/07/10) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. The Link between Gaucher Disease and Parkinson's Disease Sheds Light on Old and Novel Disorders of Sphingolipid Metabolism. (2019/07/05) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Lipids as Trans-Acting Effectors for α-Synuclein in the Pathogenesis of Parkinson's Disease. (2019/07/03) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Immunological challenges and approaches to immunomodulation in Pompe disease: a literature review. (2019/07/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Liver depot gene therapy for Pompe disease. (2019/07/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond. (2019/07/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in gaucher disease. (2019/06/29) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Reversal of life-threatening hepatopulmonary syndrome in Gaucher disease by imiglucerase enzyme replacement therapy. (2019/06/28) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Gaucher disease in Montenegro - genotype/phenotype correlations: Five cases report. (2019/06/26) ♡
- Concurrent juvenile myelomonocytic leukemia with thalassemia in a case with Plasmodium knowlesi infection from Sabah, Malaysian Borneo. (2019/06/24) ♡
- Commentary or editorialiAn expert's opinion or commentary, not new research. Gaucher disease screening at a general adult hematology tertiary care centre: A prospective study. (2019/06/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene. (2019/06/01) ♡
- Web-Based Bioinformatics Predictors: Recommendations to Assess Lysosomal Cholesterol Trafficking Diseases-Related Genes. (2019/06/01) ♡
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