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Page 1
Lysosomal storage diseases.
Platt FM, d'Azzo A, Davidson BL, Neufeld EF, Tifft CJ. Platt FM, et al. Nat Rev Dis Primers. 2018 Oct 1;4(1):27. doi: 10.1038/s41572-018-0025-4. Nat Rev Dis Primers. 2018. PMID: 30275469 Review.
Several LSDs can be treated with approved, disease-specific therapies that are mostly based on enzyme replacement. However, small-molecule therapies, including substrate reduction and chaperone therapies, have also been developed and are approved for some LSDs, whereas gen …
Several LSDs can be treated with approved, disease-specific therapies that are mostly based on enzyme replacement. However, small-mol …
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 …
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 …
Elevated holo-transcobalamin in Gaucher disease type II: A case report.
Basgalupp SP, Donis KC, Siebert M, E Vairo FP, Artigalas O, de Camargo Pinto LL, Behringer S, Spiekerkoetter U, Hannibal L, Schwartz IVD. Basgalupp SP, et al. Am J Med Genet A. 2021 Aug;185(8):2471-2476. doi: 10.1002/ajmg.a.62252. Epub 2021 May 24. Am J Med Genet A. 2021. PMID: 34031990 Review.
Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of beta-glucocerebrosidase. ...A 2-month-old male with GD type II was admitted to the hospital presenting jaundice, hepatosplenomegaly, and ichthyosis. ...
Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of beta-glucocerebrosidase. ...A 2-m
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
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
Treating lysosomal storage disorders: What have we learnt?
Lachmann RH. Lachmann RH. J Inherit Metab Dis. 2020 Jan;43(1):125-132. doi: 10.1002/jimd.12131. Epub 2019 Jun 26. J Inherit Metab Dis. 2020. PMID: 31140601 Review.
The first enzyme replacement therapy (ERT) for a lysosomal storage disorder (LSD) was approved in 1991 and we now have more than 25 years of experience of treating patients with type 1 Gaucher disease. Because of the remarkable success of this therapy, enormo …
The first enzyme replacement therapy (ERT) for a lysosomal storage disorder (LSD) was approved in 1991 and we now have more than 25 years of …
Gaucher's disease and pregnancy.
Fasouliotis SJ, Ezra Y, Schenker JG. Fasouliotis SJ, et al. Am J Perinatol. 1998 May;15(5):311-8. doi: 10.1055/s-2007-993950. Am J Perinatol. 1998. PMID: 9643638 Review.
Gaucher's disease is an autosomal recessive lysosomal storage disease, resulting from a deficiency of the enzyme glucocerebrosidase, which is required for the lysosomal degradation of glycolipids. ...We present an extensive review of the current literature re
Gaucher's disease is an autosomal recessive lysosomal storage disease, resulting from a deficiency of the enzyme glucoc
62 results