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2025

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1981 1
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2000 1
2002 1
2006 3
2007 5
2008 2
2009 1
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2015 3
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Page 1
Metabolic cardiomyopathies.
Guertl B, Noehammer C, Hoefler G. Guertl B, et al. Int J Exp Pathol. 2000 Dec;81(6):349-72. doi: 10.1046/j.1365-2613.2000.00186.x. Int J Exp Pathol. 2000. PMID: 11298185 Free PMC article. Review.
Examples of these disorders are glycogen storage diseases (e.g. glycogenosis type II and III), lysosomal storage diseases (e.g. Niemann-Pick disease, Gaucher disease, I-cell disease, various types of mucopolysaccharidoses, GM1 gangliosido …
Examples of these disorders are glycogen storage diseases (e.g. glycogenosis type II and III), lysosomal storage diseases (e.g …
Neonatal cholestasis and Niemann-pick type C disease: A literature review.
López de Frutos L, Cebolla JJ, de Castro-Orós I, Irún P, Giraldo P. López de Frutos L, et al. Clin Res Hepatol Gastroenterol. 2021 Nov;45(6):101757. doi: 10.1016/j.clinre.2021.101757. Epub 2021 Jul 22. Clin Res Hepatol Gastroenterol. 2021. PMID: 34303826 Review.
BACKGROUND: Neonatal cholestasis (NC) is one of the most serious diseases in newborns and infants and results from metabolic disorders, such as Niemann-Pick type C (NPC), among other causes. OBJECTIVE: We evaluated the incidence of NPC in our NC plus lysosomal storage d
BACKGROUND: Neonatal cholestasis (NC) is one of the most serious diseases in newborns and infants and results from metabolic disorders, such …
Neurological symptoms in adults with Gaucher disease: a systematic review.
Imbalzano G, Ledda C, Romagnolo A, Covolo A, Lopiano L, Artusi CA. Imbalzano G, et al. J Neurol. 2024 Jul;271(7):3897-3907. doi: 10.1007/s00415-024-12439-5. Epub 2024 May 21. J Neurol. 2024. PMID: 38771384 Free PMC article. Review.
INTRODUCTION: Gaucher disease (GD) is classically divided into three types, based on the presence or absence of neurological signs and symptoms. ...Data extraction included GD types, GBA1 variants, age at disease onset and diagnosis, duration of GD, and age a …
INTRODUCTION: Gaucher disease (GD) is classically divided into three types, based on the presence or absence of neurological s …
Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe.
Belmatoug N, Di Rocco M, Fraga C, Giraldo P, Hughes D, Lukina E, Maison-Blanche P, Merkel M, Niederau C, Plӧckinger U, Richter J, Stulnig TM, Vom Dahl S, Cox TM. Belmatoug N, et al. Eur J Intern Med. 2017 Jan;37:25-32. doi: 10.1016/j.ejim.2016.07.011. Epub 2016 Aug 10. Eur J Intern Med. 2017. PMID: 27522145 Free article. Review.
Eliglustat is an oral substrate reduction therapy approved in the European Union and the United States as a first-line treatment for adults with type 1 Gaucher disease who have compatible CYP2D6 metabolism phenotypes. A European Advisory Council of experts in …
Eliglustat is an oral substrate reduction therapy approved in the European Union and the United States as a first-line treatment for adults …
Outcome of type III Gaucher disease on enzyme replacement therapy: review of 55 cases.
Davies EH, Erikson A, Collin-Histed T, Mengel E, Tylki-Szymanska A, Vellodi A. Davies EH, et al. J Inherit Metab Dis. 2007 Nov;30(6):935-42. doi: 10.1007/s10545-007-0577-z. Epub 2007 Nov 12. J Inherit Metab Dis. 2007. PMID: 17994286 Review.
The European Task Force for Neuronopathic Gaucher Disease (NGD) met in 2006 to review its 2001 guidelines. Fifty-five patients from five European countries were reviewed; 29 were male and 26 female. ...
The European Task Force for Neuronopathic Gaucher Disease (NGD) met in 2006 to review its 2001 guidelines. Fifty-five patients …
Gaucher's disease: report of 11 cases with review of literature.
Essabar L, Meskini T, Lamalmi N, Ettair S, Erreimi N, Mouane N. Essabar L, et al. Pan Afr Med J. 2015 Jan 7;20:18. doi: 10.11604/pamj.2015.20.18.4112. eCollection 2015. Pan Afr Med J. 2015. PMID: 25995815 Free PMC article. Review.
Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it's one of the rare genetic diseases for which therapy is now available. ...Both of them died. Gaucher's disease is not exceptional in Morocco. Type 1
Gaucher's disease (GD) is a lysosomal storage disorder due to glucocerebrosidase deficiency; it's one of the rare genetic dise
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 within …
The purpose of this article is to review eliglustat tartrate, a substrate reduction therapy, for the treatment of Gaucher disease
'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature.
Biegstraaten M, van Schaik IN, Aerts JM, Hollak CE. Biegstraaten M, et al. J Inherit Metab Dis. 2008 Jun;31(3):337-49. doi: 10.1007/s10545-008-0832-y. Epub 2008 Apr 4. J Inherit Metab Dis. 2008. PMID: 18404411 Review.
Type I Gaucher disease is differentiated from types II and III disease by the absence of nervous system involvement. ...In conclusion, the term non-neuronopathic Gaucher disease does not seem to be an appropriate characterization o
Type I Gaucher disease is differentiated from types II and III disease by the absence of nervous system i
Metabolic arthropathies.
Timsit MA, Bardin T. Timsit MA, et al. Curr Opin Rheumatol. 1994 Jul;6(4):448-53. doi: 10.1097/00002281-199407000-00017. Curr Opin Rheumatol. 1994. PMID: 8068518 Review.
The rheumatic involvement in type IIa and type III hyperlipoproteinemias recently was confirmed in a case-control study. Magnetic resonance imaging appears to be useful in assessing the extent and activity of bone marrow involvement in Gaucher's dis
The rheumatic involvement in type IIa and type III hyperlipoproteinemias recently was confirmed in a case-control study …
Severe cardiac involvement in Gaucher type IIIC: a case report and review of the literature.
Kör Y, Keskin M, Başpınar O. Kör Y, et al. Cardiol Young. 2017 Sep;27(7):1426-1429. doi: 10.1017/S1047951117000579. Epub 2017 Apr 10. Cardiol Young. 2017. PMID: 28393750 Review.
Gaucher disease is an autosomal-recessive lysosomal storage disease characterised by the accumulation of glucocerebroside in macrophages; it is caused by mutations in glucocerebrosidase gene-1 in many organ tissues such as the liver, spleen, and bone marrow.
Gaucher disease is an autosomal-recessive lysosomal storage disease characterised by the accumulation of glucocerebrosi
39 results