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PubPharm (138)
1
Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis
enthalten in:
Journal of clinical medicine
| 2024
von
Giacomarra, M.
|
Colomba, P.
|
Francofonte, D.
| +11
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2
Corrigendum : Case report: De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson-Fabry disease
enthalten in:
Frontiers in genetics
| 2024
von
Simonetta, I.
|
Riolo, R.
|
Todaro, F.
| +6
ErratumFor: Front Genet. 2023 Sep 14;14:1122893. - PMID 37779915
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3
Gaucher disease prevalence in 600 patients affected by monoclonal gammopathy of undetermined significance
enthalten in:
European journal of haematology
| 2023
von
Giuffrida, G.
|
Markovic, U.
|
Condorelli, A.
| +22
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4
Late-Onset Pompe Disease with Normal Creatine Kinase Levels : The Importance of Rheumatological Suspicion
enthalten in:
International journal of molecular sciences
| 2023
von
Marotto, D.
|
Moschetti, M.
|
Lo Curto, A.
| +6
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5
Sex Differences in Anderson-Fabry Cardiomyopathy : Clinical, Genetic, and Imaging Analysis in Women
enthalten in:
Genes
| 2023
von
Faro, D.
|
Losi, V.
|
Rodolico, M.
| +4
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6
Case report : De novo mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson-Fabry disease
enthalten in:
Frontiers in genetics
| 2023
von
Simonetta, I.
|
Riolo, R.
|
Todaro, F.
| +6
ErratumIn: Front Genet. 2024 Feb 15;15:1368953. - PMID 38425717
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7
Gaucher disease prevalence in 600 patients affected by monoclonal gammopathy of undetermined significance
enthalten in:
European Journal of Haematology
| 2023
von
Giuffrida, G.
|
Markovic, U.
|
Condorelli, A.
| +22
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8
Distribution of KIR Genes and Their HLA Ligands in Different Viral Infectious Diseases : Frequency Study in Sicilian Population
enthalten in:
International journal of molecular sciences
| 2022
von
Ligotti, M.
|
Aiello, A.
|
Accardi, G.
| +10
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9
Hemochromatosis Mimicked Gaucher Disease : Role of Hyperferritinemia in Evaluation of a Clinical Case
enthalten in:
Biology
| 2022
von
Zizzo, C.
|
Ruggeri, I.
|
Colomba, P.
| +6
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10
How Important Are Genes to Achieve Longevity?
enthalten in:
International journal of molecular sciences
| 2022
von
Caruso, C.
|
Ligotti, M.
|
Accardi, G.
| +4
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Cells
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Thema
70
Journal Article
20
Research Support, Non-U.S. Gov't
18
EC 3.2.1.22
18
alpha-Galactosidase
16
Fabry disease
12
Case Reports
10
Review
9
Biomarkers
8
GLA protein, human
6
α-galactosidase A
5
Adiponectin
5
Allergens
5
GLA gene
5
Gaucher disease
5
Receptors, KIR
5
Sphingolipids
4
126550-86-5
4
Anderson–Fabry disease
4
GLA
4
Glycolipids
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