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63 results

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Page 1
Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review.
Kałużna M, Trzeciak I, Ziemnicka K, Machaczka M, Ruchała M. Kałużna M, et al. Orphanet J Rare Dis. 2019 Dec 2;14(1):275. doi: 10.1186/s13023-019-1211-5. Orphanet J Rare Dis. 2019. PMID: 31791361 Free PMC article. Review.
Hormonal and metabolic disturbances observed in both adult and paediatric patients with Gaucher disease type 1 (GD1) are discussed in this review. The PubMed database was used to identify articles on endocrine and metabolic disorders in GD1. ...
Hormonal and metabolic disturbances observed in both adult and paediatric patients with Gaucher disease type 1 ( …
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.
Dardis A, Michelakakis H, Rozenfeld P, Fumic K, Wagner J, Pavan E, Fuller M, Revel-Vilk S, Hughes D, Cox T, Aerts J; International Working Group of Gaucher Disease (IWGGD). Dardis A, et al. Orphanet J Rare Dis. 2022 Dec 21;17(1):442. doi: 10.1186/s13023-022-02573-6. Orphanet J Rare Dis. 2022. PMID: 36544230 Free PMC article.
Gaucher disease: the metabolic defect, pathophysiology, phenotypes and natural history.
Baris HN, Cohen IJ, Mistry PK. Baris HN, et al. Pediatr Endocrinol Rev. 2014 Sep;12 Suppl 1(0 1):72-81. Pediatr Endocrinol Rev. 2014. PMID: 25345088 Free PMC article. Review.
A complex multisystem phenotype arises involving the liver, spleen, bone marrow and occasionally the lungs in type 1 Gaucher disease; in neuronopathic fulminant type 2 and chronic type 3 disease there is in addition progressive neurodegenerative disease. Manifestations of Gauc
A complex multisystem phenotype arises involving the liver, spleen, bone marrow and occasionally the lungs in type 1 Gaucher disease; in neu …
Management of bone disease in Gaucher disease type 1: clinical practice.
Giuffrida G, Cappellini MD, Carubbi F, Di Rocco M, Iolascon G. Giuffrida G, et al. Adv Ther. 2014 Dec;31(12):1197-212. doi: 10.1007/s12325-014-0174-0. Epub 2014 Dec 17. Adv Ther. 2014. PMID: 25515322 Free article. Review.
The aim of this paper was to propose a methodological and critical approach to the diagnosis, follow-up and treatment of bone disease in patients with Gaucher disease type 1....
The aim of this paper was to propose a methodological and critical approach to the diagnosis, follow-up and treatment of bone disease in pat …
Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease.
Bennett LL, Turcotte K. Bennett LL, et al. Drug Des Devel Ther. 2015 Aug 18;9:4639-47. doi: 10.2147/DDDT.S77760. eCollection 2015. Drug Des Devel Ther. 2015. PMID: 26345314 Free PMC article. Review.
The purpose of this article is to review eliglustat tartrate, a substrate reduction therapy, for the treatment of Gaucher disease type 1 (GD1). GD is an rare inborn error of metabolism caused by accumulation of lipid substrates such as glucosylceramide …
The purpose of this article is to review eliglustat tartrate, a substrate reduction therapy, for the treatment of Gaucher disease
Proteomic biomarkers in Gaucher disease.
Pawliński Ł, Tobór E, Suski M, Biela M, Polus A, Kieć-Wilk B. Pawliński Ł, et al. J Clin Pathol. 2021 Jan;74(1):25-29. doi: 10.1136/jclinpath-2020-206580. Epub 2020 May 14. J Clin Pathol. 2021. PMID: 32409598
AIMS: The research work was conducted to find new biomarkers and potential drug targets in Gaucher disease type 1 (GDt1) by analysing the serum proteins. METHODS: This study was an observational, cross-sectional analysis of a group of 12 adult particip …
AIMS: The research work was conducted to find new biomarkers and potential drug targets in Gaucher disease type 1
Similarities and differences between Gaucher disease and acid sphingomyelinase deficiency: An algorithm to support the diagnosis.
Cappellini MD, Motta I, Barbato A, Giuffrida G, Manna R, Carubbi F, Giona F. Cappellini MD, et al. Eur J Intern Med. 2023 Feb;108:81-84. doi: 10.1016/j.ejim.2022.11.028. Epub 2022 Nov 26. Eur J Intern Med. 2023. PMID: 36443133
Acid sphingomyelinase deficiency (ASMD), previously known as Niemann Pick A/B disease, is also an autosomal recessive lysosomal storage disorder due to mutations in the SMPD1 gene, which result in acid sphingomyelinase deficiency and the accumulation of sphingomyelin in mononucle …
Acid sphingomyelinase deficiency (ASMD), previously known as Niemann Pick A/B disease, is also an autosomal recessive lysosomal storage diso …
Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia.
Motta I, Consonni D, Stroppiano M, Benedetto C, Cassinerio E, Tappino B, Ranalli P, Borin L, Facchini L, Patriarca A, Barcellini W, Lanza F, Filocamo M, Cappellini MD; Splenomegaly Gaucher group. Motta I, et al. Sci Rep. 2021 Jan 28;11(1):2594. doi: 10.1038/s41598-021-82296-z. Sci Rep. 2021. PMID: 33510429 Free PMC article. Clinical Trial.
Hematologists are frequently involved in the diagnostic pathway of Gaucher disease type 1 (GD1) patients since they present several hematological signs. ...
Hematologists are frequently involved in the diagnostic pathway of Gaucher disease type 1 (GD1) patients since t …
63 results