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

Year Number of Results
1975 2
1977 1
1978 2
1979 1
1981 1
1982 2
1983 1
1984 2
1985 6
1986 3
1987 4
1988 2
1989 3
1990 4
1991 5
1992 1
1993 7
1994 9
1995 3
1996 11
1997 9
1998 6
1999 8
2000 8
2001 9
2002 10
2003 16
2004 17
2005 12
2006 18
2007 22
2008 12
2009 12
2010 24
2011 24
2012 13
2013 21
2014 18
2015 19
2016 25
2017 18
2018 26
2019 24
2020 14
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409 results
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Page 1
Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study.
Narita A, Shirai K, Itamura S, Matsuda A, Ishihara A, Matsushita K, Fukuda C, Kubota N, Takayama R, Shigematsu H, Hayashi A, Kumada T, Yuge K, Watanabe Y, Kosugi S, Nishida H, Kimura Y, Endo Y, Higaki K, Nanba E, Nishimura Y, Tamasaki A, Togawa M, Saito Y, Maegaki Y, Ohno K, Suzuki Y. Narita A, et al. Ann Clin Transl Neurol. 2016 Feb 2;3(3):200-15. doi: 10.1002/acn3.292. eCollection 2016 Mar. Ann Clin Transl Neurol. 2016. PMID: 27042680 Free PMC article.
The purpose of this study was to evaluate the safety, tolerability, and neurological efficacy of ambroxol in patients with neuronopathic GD. ...INTERPRETATION: Pharmacological chaperone therapy with high-dose oral ambroxol shows promise in treating neuronopathic GD, …
The purpose of this study was to evaluate the safety, tolerability, and neurological efficacy of ambroxol in patients with neuronopathic …
Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement.
Degnan AJ, Ho-Fung VM, Ahrens-Nicklas RC, Barrera CA, Serai SD, Wang DJ, Ficicioglu C. Degnan AJ, et al. Insights Imaging. 2019 Jul 10;10(1):70. doi: 10.1186/s13244-019-0743-5. Insights Imaging. 2019. PMID: 31289964 Free PMC article. Review.
Gaucher disease is an inherited metabolic disorder resulting in deficiency of lysosomal enzyme β-glucocerebrosidase causing the accumulation of abnormal macrophages ("Gaucher cells") within multiple organs, most conspicuously affecting the liver, spleen, and bone ma …
Gaucher disease is an inherited metabolic disorder resulting in deficiency of lysosomal enzyme β-glucocerebrosidase causing the accum …
The definition of neuronopathic Gaucher disease.
Schiffmann R, Sevigny J, Rolfs A, Davies EH, Goker-Alpan O, Abdelwahab M, Vellodi A, Mengel E, Lukina E, Yoo HW, Collin-Histed T, Narita A, Dinur T, Revel-Vilk S, Arkadir D, Szer J, Wajnrajch M, Ramaswami U, Sidransky E, Donald A, Zimran A. Schiffmann R, et al. J Inherit Metab Dis. 2020 Sep;43(5):1056-1059. doi: 10.1002/jimd.12235. Epub 2020 Apr 3. J Inherit Metab Dis. 2020. PMID: 32242941
Neuronopathic Gaucher disease (nGD) has a very wide clinical and genotypic spectrum. However, there is no consensus definition of nGD, including no description of how best to diagnostically separate the acute form-Gaucher type 2-from the subacute or chronic f …
Neuronopathic Gaucher disease (nGD) has a very wide clinical and genotypic spectrum. However, there is no consensus definition …
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.
Gaucher disease (GD), a prototype lysosomal storage disorder, results from inherited deficiency of lysosomal glucocerebrosidase due to biallelic mutations in GBA. ...A complex multisystem phenotype arises involving the liver, spleen, bone marrow and occasionally the lungs …
Gaucher disease (GD), a prototype lysosomal storage disorder, results from inherited deficiency of lysosomal glucocerebrosidase due t …
Gaucher disease.
Nagral A. Nagral A. J Clin Exp Hepatol. 2014 Mar;4(1):37-50. doi: 10.1016/j.jceh.2014.02.005. Epub 2014 Apr 21. J Clin Exp Hepatol. 2014. PMID: 25755533 Free PMC article. Review.
Gaucher disease is the commonest lysosomal storage disease seen in India and worldwide. It should be considered in any child or adult with an unexplained splenohepatomegaly and cytopenia which are seen in the three types of Gaucher disease. Type 1 is the non-neur …
Gaucher disease is the commonest lysosomal storage disease seen in India and worldwide. It should be considered in any child or adult …
Pharmacological treatment of pediatric Gaucher disease.
Gupta P, Pastores G. Gupta P, et al. Expert Rev Clin Pharmacol. 2018 Dec;11(12):1183-1194. doi: 10.1080/17512433.2018.1549486. Epub 2018 Dec 3. Expert Rev Clin Pharmacol. 2018. PMID: 30444430 Review.
Gaucher disease (GD) is an autosomal recessive disorder resulting from the deficiency of the lysosomal enzyme glucocerebrosidase (b-glucosidase), associated with varying degrees of visceral, bone and central nervous system pathology, leading to wide phenotypic diversity. R …
Gaucher disease (GD) is an autosomal recessive disorder resulting from the deficiency of the lysosomal enzyme glucocerebrosidase (b-g …
Recent advances in the diagnosis and management of Gaucher disease.
Gary SE, Ryan E, Steward AM, Sidransky E. Gary SE, et al. Expert Rev Endocrinol Metab. 2018 Mar;13(2):107-118. doi: 10.1080/17446651.2018.1445524. Epub 2018 Mar 12. Expert Rev Endocrinol Metab. 2018. PMID: 30058864 Free PMC article.
INTRODUCTION: Gaucher disease, the autosomal recessive deficiency of the lysosomal enzyme glucocerebrosidase, is associated with wide phenotypic diversity including non-neuronopathic, acute neuronopathic, and chronic neuronopathic forms. ...AREAS COVER …
INTRODUCTION: Gaucher disease, the autosomal recessive deficiency of the lysosomal enzyme glucocerebrosidase, is associated with wide …
Glucocerebrosidase and its relevance to Parkinson disease.
Do J, McKinney C, Sharma P, Sidransky E. Do J, et al. Mol Neurodegener. 2019 Aug 29;14(1):36. doi: 10.1186/s13024-019-0336-2. Mol Neurodegener. 2019. PMID: 31464647 Free PMC article. Review.
Mutations in GBA1 may lead to degradation of the protein, disruptions in lysosomal targeting and diminished performance of the enzyme in the lysosome.Gaucher disease is phenotypically diverse and has both neuronopathic and non-neuronopathic forms. ...Conseque …
Mutations in GBA1 may lead to degradation of the protein, disruptions in lysosomal targeting and diminished performance of the enzyme in the …
Drosophila melanogaster Mutated in its GBA1b Ortholog Recapitulates Neuronopathic Gaucher Disease.
Cabasso O, Paul S, Dorot O, Maor G, Krivoruk O, Pasmanik-Chor M, Mirzaian M, Ferraz M, Aerts J, Horowitz M. Cabasso O, et al. J Clin Med. 2019 Sep 9;8(9):1420. doi: 10.3390/jcm8091420. J Clin Med. 2019. PMID: 31505865 Free PMC article.
Gaucher disease (GD) results from mutations in the GBA1 gene, which encodes lysosomal glucocerebrosidase (GCase). The large number of mutations known to date in the gene lead to a heterogeneous disorder, which is divided into a non-neuronopathic, type 1 GD, and two …
Gaucher disease (GD) results from mutations in the GBA1 gene, which encodes lysosomal glucocerebrosidase (GCase). The large number of …
Fetal gene therapy could be feasible for neuronopathic Gaucher disease.
Wood H. Wood H. Nat Rev Neurol. 2018 Sep;14(9):507. doi: 10.1038/s41582-018-0053-4. Nat Rev Neurol. 2018. PMID: 30061714 No abstract available.
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