Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1989 1
1991 1
1993 1
1996 1
2000 2
2001 1
2005 1
2006 1
2007 2
2008 2
2010 3
2011 2
2014 1
2015 2
2016 3
2017 1
2018 3
2022 1
2023 2
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

24 results

Results by year

Filters applied: . Clear all
Page 1
Comorbidities and pharmacotherapies in patients with Gaucher disease type 1: The potential for drug-drug interactions.
Utz J, Whitley CB, van Giersbergen PL, Kolb SA. Utz J, et al. Mol Genet Metab. 2016 Feb;117(2):172-8. doi: 10.1016/j.ymgme.2015.12.001. Epub 2015 Dec 2. Mol Genet Metab. 2016. PMID: 26674302 Free article. Review.
We investigated the range of comorbid conditions in patients with Gaucher disease type I (GD1), the pharmacotherapies prescribed and the potential for DDI with enzyme replacement and substrate reduction therapies and additional medications, specificall …
We investigated the range of comorbid conditions in patients with Gaucher disease type I (GD1), the pharmacother …
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 …
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 …
Ghrelin, leptin and adiponectin levels in Gaucher disease type I patients on enzyme replacement therapy.
Doneda D, Lopes AL, Teixeira BC, Mittelstadt SD, Moulin CC, Schwartz IV. Doneda D, et al. Clin Nutr. 2015 Aug;34(4):727-31. doi: 10.1016/j.clnu.2014.08.010. Epub 2014 Aug 30. Clin Nutr. 2015. PMID: 25239509
BACKGROUND: Gaucher disease type I (GD type I) is characterized by clinical heterogeneity and is associated with metabolic abnormalities such as increased basal metabolic rate. ...
BACKGROUND: Gaucher disease type I (GD type I) is characterized by clinical heterogeneity and is associated with …
Assessment of the liver and spleen in children with Gaucher disease type I with diffusion-weighted MR imaging.
Razek AAKA, Abdalla A, Barakat T, El-Taher H, Ali K. Razek AAKA, et al. Blood Cells Mol Dis. 2018 Feb;68:139-142. doi: 10.1016/j.bcmd.2016.12.004. Epub 2016 Dec 20. Blood Cells Mol Dis. 2018. PMID: 28012701
PURPOSE: To assess hepatic and splenic apparent diffusion coefficient (ADC) in children with Gaucher disease type I with diffusion-weighted MR imaging and to correlate hepatic and splenic ADC with parameters of disease severity. ...
PURPOSE: To assess hepatic and splenic apparent diffusion coefficient (ADC) in children with Gaucher disease type I …
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 …
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
Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature.
de Fost M, Out TA, de Wilde FA, Tjin EP, Pals ST, van Oers MH, Boot RG, Aerts JF, Maas M, Vom Dahl S, Hollak CE. de Fost M, et al. Ann Hematol. 2008 Jun;87(6):439-49. doi: 10.1007/s00277-008-0441-8. Epub 2008 Feb 15. Ann Hematol. 2008. PMID: 18274746 Free PMC article.
Gaucher disease type I, the most common lysosomal storage disorder, is associated with immunoglobulin abnormalities. We studied the prevalence, risk factors, pathogenesis, and effect of enzyme relation therapy (ERT) on gammopathies in an adult Gauch …
Gaucher disease type I, the most common lysosomal storage disorder, is associated with immunoglobulin abnormalit …
24 results