Keywords: بیماری گوچه; Gaucher disease; Glucocerebrosidase deficiency; Bone pathology; Osteoclasts; Osteoimmunology
مقالات ISI بیماری گوچه (ترجمه نشده)
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Keywords: بیماری گوچه; α-synuclein; β-glucocerebrosidase; Gaucher disease; Parkinson disease;
Keywords: بیماری گوچه; Eliglustat; Cerdelga; Carcinogenicity; Glucosylceramide synthase inhibitor; Gaucher disease; Lysosomal storage disease; FDA CAC; Food & Drug Administration Executive Carcinogenicity Assessment Committee; GD1; type 1 Gaucher disease; GL-1; glucosylceramide
Keywords: بیماری گوچه; Gaucher disease; Fabry disease; enzyme replacement therapy; therapeutic goals; attenuated phenotypes; late onset;
Keywords: بیماری گوچه; lysosomal storage disorders; Gaucher disease; mucopolysaccharidosis; mucolipidosis; pycnodysostosis; dysosotosis multiplex; bone involvement; bone crisis; osteoporosis; osteonecrosis;
Keywords: بیماری گوچه; AA; arachidonic acid; ADAPS; alkyl-dihydroxyacetonephosphate synthase; Cer; ceramide; DHA; docosahexaenoic acid; DHAPAT; dihydroxyacetonephosphate acyltransferase; DMA; dimethylacetal; GBA; β-glucocerebrosidase; GD; Gaucher disease; GlcCer; glucosylceram
Keywords: بیماری گوچه; Gaucher disease; Fanconi syndrome; Pathological fracture; Pyogenic osteomyelitis
Keywords: بیماری گوچه; BL; baseline; BMB; bone marrow burden; BMD; bone mineral density; CCL18; chemokine (C-C motif) ligand 18; EOW; every other week; ERT; enzyme replacement therapy; F; femur; F-BMB; femoral bone marrow burden; FN; femoral neck; GD; Gaucher disease; LS; lum
Keywords: بیماری گوچه; Gaucher disease; Bone; Histology
Keywords: بیماری گوچه; Gaucher disease; Enzyme replacement therapy; Anemia; Splenomegaly
Keywords: بیماری گوچه; Lysosomal storage diseases; Gaucher disease; Alpha-synuclein; Oligomerization; Parkinson's disease;
Keywords: بیماری گوچه; Newborn screening; Lysosomal storage disease; Fabry disease; Pompe disease; Gaucher disease; Tandem mass spectrometry
Keywords: بیماری گوچه; Gaucher disease; Lysosomal storage disease; Inborn errors of metabolism; Acid β-glucosidase;
Keywords: بیماری گوچه; Glycosphingolipid; Lysosome; Gaucher disease; Fabry disease; Galactotriaosylsphingosine; Activity-based probe
Keywords: بیماری گوچه; Parkinson disease; Parkinsonism; Diffuse Lewy body disease; Transcranial sonography; PET; Glucocerebrosidase; GBA; Gaucher disease; LRRK2;
Keywords: بیماری گوچه; BMP; bis(monoacylglycero)phosphate; Cer; ceramide; DHC; dihexosylceramide; GD; Gaucher disease; GC; glucosylceramide; LC/ESI-MS/MS; liquid chromatography/electrospray-ionization tandem mass spectrometry; MBS; MES buffered saline; PC; phosphatidylcholine;
Keywords: بیماری گوچه; Parkinson's disease; Glucocerebrosidase; Autophagy; Mitochondria; Oxidative stress; Free radicals; Alpha-synuclein; Membrane potential; Neurodegeneration; Gaucher disease;
Keywords: بیماری گوچه; Gaucher disease; Glucocerebrosidase; Optical coherence tomography; Parkinson's disease;
Keywords: بیماری گوچه; Protein misfolding; Chaperone; Cystic fibrosis; Gaucher disease; Toxic oligomer; Serum amyloid P (SAP); Proteostasis;
Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients
Keywords: بیماری گوچه; Gaucher disease; GBA1; Molecular diagnosis; MLPA;
Enzyme replacement therapy reverses B lymphocyte and dendritic cell dysregulations in patients with Gaucher Disease
Keywords: بیماری گوچه; ACE; angiotensin conversion enzyme; CBC; complete blood count; CHITO; chitotriosidase; DC; dendritic cells; ERT; enzyme replacement therapy; GCase; Glucocerebrosidase; HC; healthy control; Hgb; hemoglobin; Ig; Immunoglobulin; MGUS; monoclonal gammopathy o
Gaucheromas: When macrophages promote tumor formation and dissemination
Keywords: بیماری گوچه; CD16; Fc fragment of IgG receptor IIIa; CD163; CD163 molecule or macrophage associated antigene; CCL2; C-C motif chemokine ligand 2; CCR4; C-C motif chemokine receptor 4; GD; Gaucher disease; GBA; glucosylceramidase beta; MΦs; macrophages; VEGF; vascular
A rare form of Gaucher disease resulting from saposin C deficiency
Keywords: بیماری گوچه; Gaucher disease; Prosapsin; Saposin C;
Correlating liver stiffness with disease severity scoring system (DS3) values in Gaucher disease type 1 (GD1) patients
Keywords: بیماری گوچه; MR elastography; Gaucher disease; Liver stiffness; Liver disease;
Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients
Keywords: بیماری گوچه; Glucocerebrosidase; GBA1; Dystonia; Parkinson's disease; Gaucher disease;
Validating glycoprotein non-metastatic melanoma B (gpNMB, osteoactivin), a new biomarker of Gaucher disease
Keywords: بیماری گوچه; gpNMB; Osteoactivin; Biomarker; Gaucher disease;
Characteristics of 26 patients with type 3 Gaucher disease: A descriptive analysis from the Gaucher Outcome Survey
Keywords: بیماری گوچه; ERT; enzyme replacement therapy; GD; Gaucher disease; GD1; type 1 Gaucher disease; GD2; type 2 Gaucher disease; GD3; type 3 Gaucher disease; GOS; Gaucher Outcome Survey; IQR; interquartile range; MN; multiples of normal; SRT; substrate reduction therapy;
UPR activation and CHOP mediated induction of GBA1 transcription in Gaucher disease
Keywords: بیماری گوچه; Gaucher disease; glucocerebrosidase; UPR; CHOP;
Chitinase-3-like Protein 1: A Progranulin Downstream Molecule and Potential Biomarker for Gaucher Disease
Keywords: بیماری گوچه; Progranulin; Gaucher disease; Chitinase-3-like-1; Lysosomal storage diseases;
Generation of osteoclasts from type 1 Gaucher patients and correlation with clinical and genetic features of disease
Keywords: بیماری گوچه; GD1; Gaucher disease type 1; AVN; avascular necrosis; BMD; bone mineral density; GD; Gaucher disease; ERT; enzyme replacement therapy; SRT; substrate reduction therapy; DEXA; dual energy X-ray absorptiometry; CCL18; chemokine (C-C motif) ligand 18; MIP1-Î
ACE phenotyping in Gaucher disease
Keywords: بیماری گوچه; ACE; angiotensin-converting enzyme; mAbs; monoclonal antibodies; ZPH; Z-Phe-His-Leu - carbobenzoxy-l-phenylalanyl-l-histidyl-L-leucine; HHL; Hip-His-Leu - hippuryl-l-histidyl-l-leucine; CHO cells; Chinese Hamster Ovary cells; PBS; phosphate buffered s
Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials
Keywords: بیماری گوچه; β-GC; β-glucocerebrosidase; CCL18; chemokine (C-C motif) ligand 18; ERT; enzyme replacement therapy; GD; Gaucher disease; lyso-Gb1; glucosylsphingosine; MN; multiples of normal; Gaucher disease; Glucosylsphingosine; Lyso-Gb1; Velaglucerase alfa; Enzyme
Full Length ArticleIn vitro osteoclastogenesis from Gaucher patients' cells correlates with bone mineral density but not with Chitotriosidase
Keywords: بیماری گوچه; Gaucher disease; Bone pathology; Osteoclasts; Chitotriosidase; Bone mineral density;
Type 1 Gaucher disease (CYP2D6-eliglustat)
Keywords: بیماری گوچه; Gaucher disease; Rare disease; Eliglustat;
Jak rozpoznawaÄ i leczyÄ chorobÄ Gauchera: zarys patofizjologii, objawów klinicznych, metod diagnostycznych i leczenia
Keywords: بیماری گوچه; glukocerebrozydaza; choroba Gauchera; badanie szpiku kostnego; komórka Gauchera; enzymatyczna terapia zastÄpcza; Glucocerebrosidase; Gaucher disease; Bone marrow examination; Gaucher cell; Enzyme replacement therapy;
Glucocerebrosidase haploinsufficiency in A53T α-synuclein mice impacts disease onset and course
Keywords: بیماری گوچه; CAT; cathepsin; CBE; conduritol-β-epoxide; ER; endoplasmic reticulum; gba+/â;  heterozygous null mouse gba allele; GCase; glucocerebrosidase; GD; Gaucher disease; HMW; high molecular weight; LAMP2; lysosomal membrane protein 1; LIMP2; lysosomal integr
Simultaneous quantitation of sphingoid bases by UPLC-ESI-MS/MS with identical 13C-encoded internal standards
Keywords: بیماری گوچه; Sphingoid bases; Fabry disease; Gaucher disease; 13C-encoded internal standards; Mass spectrometry; Quantification;
Serum lipid alterations in GBA-associated Parkinson's disease
Keywords: بیماری گوچه; Parkinson's disease; Gaucher disease; GBA; LRRK2; sphingolipids; Biomarkers;
Clinical evaluation of chitotriosidase enzyme activity in Gaucher and Niemann Pick A/B diseases: A retrospective study from India
Keywords: بیماری گوچه; LSDs; Lysosomal Storage Disorders; CT; Chitotriosidase; GD; Gaucher disease; NPD A/B; Niemann Pick disease A/B; ERT; Enzyme Replacement Therapy; Chitotriosidase; Gaucher; Niemann Pick A/B; Lysosomal Storage Disorders;
CD4+CD25highFoxp3+ Treg deficiency in a Brazilian patient with Gaucher disease and lupus nephritis
Keywords: بیماری گوچه; Gaucher disease; Invariant natural killer T cells; Regulatory T cells; Lupus nephritis
Nine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez DÃaz
Keywords: بیماری گوچه; FJD; Fundación Jiménez DÃaz; GD; Gaucher disease; GBA; acid β-glucosidase; ERT; enzyme replacement therapy; Spanish Gaucher disease; Gaucher disease; GBA gene; Chitotriosidase;
Evaluation of treatment response to enzyme replacement therapy with Velaglucerase alfa in patients with Gaucher disease using whole-body magnetic resonance imaging
Keywords: بیماری گوچه; Velaglucerase alfa; Whole-body MRI; Score systems; Gaucher disease;
MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease
Keywords: بیماری گوچه; Gaucher Disease; Multiplex Ligation-dependent Probe Amplification (MLPA); Copy number variations; Gene-pseudogene complex rearrangements; Deletions; GBA gene;
Inhibitor versus chaperone behaviour of d-fagomine, DAB and LAB sp2-iminosugar conjugates against glycosidases: A structure-activity relationship study in Gaucher fibroblasts
Keywords: بیماری گوچه; Iminosugar; d-Fagomine; Pyrrolidine; Glycosidase inhibitor; Pharmacological chaperone; Gaucher disease;
Advances in GBA-associated Parkinson's disease – Pathology, presentation and therapies
Keywords: بیماری گوچه; Glucocerebrosidase; Gaucher disease; Parkinson's disease; α-Synuclein; LIMP-2
Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing
Keywords: بیماری گوچه; Carrier screening; prenatal screening; autosomal recessive disorder; autosomal dominant disorder; X-linked disorder; thalassemia; hemoglobinopathy; cystic fibrosis; Duchenne/Becker muscular dystrophy; Fragile X; spinal muscular atrophy; Tay-Sachs disease;
Opinion commune de la SOGC et du CCGM sur le dépistage génétique en contexte de procréation : Mise à jour à l'intention de l'ensemble des prestataires canadiens de soins de santé maternelle et de services en procréation, à l'ère des tests offerts dire
Keywords: بیماری گوچه; Carrier screening; prenatal screening; autosomal recessive disorder; autosomal dominant disorder; X-linked disorder; thalassemia; hemoglobinopathy; cystic fibrosis; Duchenne/Becker muscular dystrophy; Fragile X; spinal muscular atrophy; Tay-Sachs disease;
13,845 home therapy infusions with velaglucerase alfa exemplify safety of velaglucerase alfa and increased compliance to every-other-week intravenous enzyme replacement therapy for Gaucher disease
Keywords: بیماری گوچه; Gaucher disease; Home therapy; Intravenous administration; Quality of life; Safety; Velaglucerase alfa
Ghrelin, leptin and adiponectin levels in Gaucher disease type I patients on enzyme replacement therapy
Keywords: بیماری گوچه; Gaucher disease type I; Adiponectin; Ghrelin; Leptin; Insulin; BMI; body mass index; ERT; enzyme replacement therapy; GD; Gaucher disease; HOMA-IR; homeostatic model assessment of insulin resistance; SRT; substrate reduction therapy; T2DM; type 2 diabetes
The contribution of Niemann-Pick SMPD1 mutations to Parkinson disease in Ashkenazi Jews
Keywords: بیماری گوچه; Parkinson's disease; SMPD1; GBA; LRRK2; Niemann-Pick disease; Gaucher disease;