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Gaucher disease.
Ali MA, Saleh FM, Das K, Latif T. Ali MA, et al. Mymensingh Med J. 2011 Jul;20(3):490-2. Mymensingh Med J. 2011. PMID: 21804517
All forms of Gaucher disease are autosomal recessively inherited. So, this patient more or less correlates with Gaucher disease type I. Treatment option for type I and III include medicine and enzyme replacement therapy, which is usually very effective …
All forms of Gaucher disease are autosomal recessively inherited. So, this patient more or less correlates with Gaucher disease …
Clinical Characteristics and GBA Gene Mutation Analysis of Gaucher Disease Type I.
Zhang X, Wu Y, Wang L, Wu Q, Liu Q, Li R. Zhang X, et al. Clin Lab. 2023 Apr 1;69(4). doi: 10.7754/Clin.Lab.2022.220816. Clin Lab. 2023. PMID: 37057944
BACKGROUND: The aim was to investigate the clinical characteristics and GBA gene mutation analysis of Gaucher disease type I in children. METHODS: The clinical manifestations, GBA gene mutations, and review related literature of 3 children with Gauc …
BACKGROUND: The aim was to investigate the clinical characteristics and GBA gene mutation analysis of Gaucher disease type …
Gaucher disease: from fundamental research to effective therapeutic interventions.
de Fost M, Aerts JM, Hollak CE. de Fost M, et al. Neth J Med. 2003 Jan;61(1):3-8. Neth J Med. 2003. PMID: 12688562 Free article. Review.
Gaucher disease type I is the most common lysosomal storage disorder, with a prevalence of 1:50,000 in most countries. ...The lipid-laden macrophages are called Gaucher cells and can be found in the liver, spleen and bone marrow. Gaucher dise …
Gaucher disease type I is the most common lysosomal storage disorder, with a prevalence of 1:50,000 in most coun …
Minimal disease activity in Gaucher disease: criteria for definition.
Di Rocco M, Andria G, Bembi B, Carubbi F, Giona F, Giuffrida G, Linari S, Sibilio M, Spina V, Cappellini MD. Di Rocco M, et al. Mol Genet Metab. 2012 Nov;107(3):521-5. doi: 10.1016/j.ymgme.2012.08.009. Epub 2012 Aug 17. Mol Genet Metab. 2012. PMID: 22954583
Gaucher disease type I is a metabolic disorder caused by a genetic deficiency of lysosomal beta-glucocerebrosidase that leads to accumulation of glucocerebroside in macrophages, thus causing damage in different organ systems. ...
Gaucher disease type I is a metabolic disorder caused by a genetic deficiency of lysosomal beta-glucocerebrosida …
Neutral theory: applicability and neutrality of clinical study endpoints where a disease-specific instrument is available.
Jandhyala R. Jandhyala R. BMC Med Res Methodol. 2023 May 20;23(1):121. doi: 10.1186/s12874-023-01947-z. BMC Med Res Methodol. 2023. PMID: 37210484 Free PMC article.
Clinical study endpoints in almost half the rare diseases with more than one disease-specific DSS (acromegaly, amyotrophic lateral sclerosis, cystic fibrosis, Fabry disease and juvenile rheumatoid arthritis) were a better match to the composite, while endpoints in the remaining r …
Clinical study endpoints in almost half the rare diseases with more than one disease-specific DSS (acromegaly, amyotrophic lateral sclerosis …
Relationship Between Glucocerebrosidase Activity and Clinical Response to Enzyme Replacement Therapy in Patients With Gaucher Disease Type I.
Gras-Colomer E, Martínez-Gómez MA, Climente-Martí M, Fernandez-Zarzoso M, Almela-Tejedo M, Giner-Galvañ V, Marcos-Rodríguez JA, Rodríguez-Fernández A, Torralba-Cabeza MÁ, Merino-Sanjuan M. Gras-Colomer E, et al. Basic Clin Pharmacol Toxicol. 2018 Jul;123(1):65-71. doi: 10.1111/bcpt.12977. Epub 2018 Mar 30. Basic Clin Pharmacol Toxicol. 2018. PMID: 29418074 Free article.
The quantification of enzyme activity in the patient treated with enzyme replacement therapy (ERT) has been suggested as a tool for dosage individualization, so we conducted a study to evaluate the relationship between glucocerebrosidase activity and clinical response in patients …
The quantification of enzyme activity in the patient treated with enzyme replacement therapy (ERT) has been suggested as a tool for dosage i …
Preimplantation genetic diagnosis (PGD) for a treatable disorder: Gaucher disease type 1 as a model.
Altarescu G, Renbaum P, Eldar-Geva T, Varshower I, Brooks B, Beeri R, Margalioth EJ, Levy-Lahad E, Elstein D, Zimran A. Altarescu G, et al. Blood Cells Mol Dis. 2011 Jan 15;46(1):15-8. doi: 10.1016/j.bcmd.2010.04.008. Epub 2010 Jun 1. Blood Cells Mol Dis. 2011. PMID: 20684885
CONCLUSIONS: PGD is an effective and accurate method for preventing Gaucher disease type I in carrier couples. Since this disease is treatable, special ethical considerations and careful selection of couples should be performed....
CONCLUSIONS: PGD is an effective and accurate method for preventing Gaucher disease type I in carrier couples. S …
Gaucher disease type I and pregnancy.
Zlotogora J, Sagi M, Zeigler M, Bach G. Zlotogora J, et al. Am J Med Genet. 1989 Apr;32(4):475-7. doi: 10.1002/ajmg.1320320408. Am J Med Genet. 1989. PMID: 2773988
24 results