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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 26
2017 19
2018 26
2019 24
2020 24
2021 24
2022 5
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445 results
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Page 1
Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.
Daykin EC, Ryan E, Sidransky E. Daykin EC, et al. Mol Genet Metab. 2021 Feb;132(2):49-58. doi: 10.1016/j.ymgme.2021.01.002. Epub 2021 Jan 9. Mol Genet Metab. 2021. PMID: 33483255 Free PMC article. Review.
The more severe forms of the disease, acute neuronopathic GD (GD2) and chronic neuronopathic GD (GD3), also have a continuum of disease severity with an overlap in manifestations and limited genotype-phenotype correlation. ...In this work, we present both classic an …
The more severe forms of the disease, acute neuronopathic GD (GD2) and chronic neuronopathic GD (GD3), also have a continuum o …
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
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 Free PMC article.
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
A reappraisal of Gaucher disease-diagnosis and disease management algorithms.
Mistry PK, Cappellini MD, Lukina E, Ozsan H, Mach Pascual S, Rosenbaum H, Helena Solano M, Spigelman Z, Villarrubia J, Watman NP, Massenkeil G. Mistry PK, et al. Am J Hematol. 2011 Jan;86(1):110-5. doi: 10.1002/ajh.21888. Am J Hematol. 2011. PMID: 21080341 Free PMC article.
Type 1 (non-neuronopathic) Gaucher disease was the first lysosomal storage disorder for which an effective enzyme replacement therapy was developed and it has become a prototype for treatments for related orphan diseases. ...To help promote timely diagnosis and opti …
Type 1 (non-neuronopathic) Gaucher disease was the first lysosomal storage disorder for which an effective enzyme replacement …
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 beta-glucocerebrosidase causing the accumulation of abnormal macrophages ("Gaucher cells") within multiple organs, most conspicuously affecting the liver, spleen, and bone
Gaucher disease is an inherited metabolic disorder resulting in deficiency of lysosomal enzyme beta-glucocerebrosidase causing the ac
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. Both patien …
Mutations in GBA1 may lead to degradation of the protein, disruptions in lysosomal targeting and diminished performance of the enzyme in the …
Neuronopathic forms of Gaucher's disease.
Erikson A, Bembi B, Schiffmann R. Erikson A, et al. Baillieres Clin Haematol. 1997 Dec;10(4):711-23. doi: 10.1016/s0950-3536(97)80035-2. Baillieres Clin Haematol. 1997. PMID: 9497859 Review.
Neuronopathic Gaucher patients may have a wide variety of clinical manifestations and natural history, and can present with a range of degrees of severity of systemic disease and neurological deficit. ...The almost 20 different mutations of the glucocerebrosidase ge
Neuronopathic Gaucher patients may have a wide variety of clinical manifestations and natural history, and can present with a
Two cases of neuronopathic form of Gaucher disease - diagnostic difficulties.
Kleinotiene G, Ivaskeviciene A, Tylki-Szymanska A. Kleinotiene G, et al. Acta Biochim Pol. 2021 Dec 14;69(1):119-122. doi: 10.18388/abp.2020_5760. Acta Biochim Pol. 2021. PMID: 34905319 Free article.
Depending on the clinical manifestations, two different forms of the disease are distinguished - the non-neuronopathic form (type 1) with a variety of presentations - from asymptomatic to symptomatic patients (characterized by hepatosplenomegaly, thrombocytopenia, anemia a …
Depending on the clinical manifestations, two different forms of the disease are distinguished - the non-neuronopathic form (type 1) …
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.
Grabowski GA, Andria G, Baldellou A, Campbell PE, Charrow J, Cohen IJ, Harris CM, Kaplan P, Mengel E, Pocovi M, Vellodi A. Grabowski GA, et al. Eur J Pediatr. 2004 Feb;163(2):58-66. doi: 10.1007/s00431-003-1362-0. Epub 2003 Dec 16. Eur J Pediatr. 2004. PMID: 14677061 Review.
Gaucher disease is caused by defective activity of glucocerebrosidase. ...Traditionally, this has been referred to as the 'adult type'; however, 66% of individuals with symptomatic non-neuronopathic Gaucher disease manifest in childhood. Onset in childhood is
Gaucher disease is caused by defective activity of glucocerebrosidase. ...Traditionally, this has been referred to as the 'adult type
445 results