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PubPharm (180)
1
Neuroinflammation in neuronopathic Gaucher disease: Role of microglia and NK cells
enthalten in:
bioRxiv.org
| 2024
von
Boddupalli, C.
|
Nair, S.
|
Belinsky, G.
| +13
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2
Osteonecrosis in Gaucher Disease in the era of multiple therapies: biomarker set for risk stratification from a tertiary referral center
enthalten in:
bioRxiv.org
| 2024
von
Basiri, M.
|
Ghaffari, M.
|
Ruan, J.
| +8
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3
Liver Transplantation for Mahvash Disease, an Inborn Error of Metabolism
enthalten in:
The New England journal of medicine
| 2023
von
Mistry, P.
|
Garcia-Tsao, G.
ErratumIn: N Engl J Med. 2023 Dec 21;389(25):2404. - PMID 38118047
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4
Advancing diagnosis and management of liver disease in adults through exome sequencing
enthalten in:
EBioMedicine
| 2023
von
Zheng, M.
|
Hakim, A.
|
Konkwo, C.
| +15
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5
Osteonecrosis in Gaucher disease in the era of multiple therapies : Biomarker set for risk stratification from a tertiary referral center
enthalten in:
eLife
| 2023
von
Basiri, M.
|
Ghaffari, M.
|
Ruan, J.
| +8
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6
The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease : Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158
enthalten in:
Journal of clinical medicine
| 2023
von
Mistry, P.
|
Kishnani, P.
|
Balwani, M.
| +4
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7
Long-term effects of eliglustat on skeletal manifestations in clinical trials of patients with Gaucher disease type 1
enthalten in:
Genetics in medicine : official journal of the American College of Medical Genetics
| 2023
von
Cox, T.
|
Charrow, J.
|
Lukina, E.
| +3
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8
Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry
enthalten in:
American journal of hematology
| 2022
von
Rosenbloom, B.
|
Cappellini, M.
|
Weinreb, N.
| +5
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9
Therapies for lysosomal storage diseases : Principles, practice, and prospects for refinements based on evolving science
enthalten in:
Molecular genetics and metabolism
| 2022
von
Grabowski, G.
|
Mistry, P.
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10
Neuroinflammation in neuronopathic Gaucher disease : Role of microglia and NK cells, biomarkers, and response to substrate reduction therapy
enthalten in:
eLife
| 2022
von
Boddupalli, C.
|
Nair, S.
|
Belinsky, G.
| +14
CommentIn: Elife. 2022 Aug 22;11:. - PMID 35993545
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