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PubPharm (312)
1
Fabry disease in W162C mutation : a case report of two patients and a review of literature
enthalten in:
BMC neurology
| 2024
von
Furia, A.
|
Ditaranto, R.
|
Biagini, E.
| +5
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2
A review and recommendations for oral chaperone therapy in adult patients with Fabry disease
enthalten in:
Orphanet journal of rare diseases
| 2024
von
Nowicki, M.
|
Bazan-Socha, S.
|
Błażejewska-Hyżorek, B.
| +11
ErratumIn: Orphanet J Rare Dis. 2024 Mar 28;19(1):139. - PMID 38549140
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3
Properties and applications of α-galactosidase in agricultural waste processing and secondary agricultural process industries
enthalten in:
Journal of the science of food and agriculture
| 2024
von
Menon, A.
|
Pandurangan Maragatham, V.
|
Samuel, M.
| +1
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4
Updated Evaluation of Agalsidase Alfa Enzyme Replacement Therapy for Patients with Fabry Disease : Insights from Real-World Data
enthalten in:
Drug design, development and therapy
| 2024
von
Feriozzi, S.
|
Chimenti, C.
|
Reisin, R.
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5
Diagnosing Fabry nephropathy : the challenge of multiple kidney disease
enthalten in:
BMC nephrology
| 2023
von
Esposito, P.
|
Caputo, C.
|
Repetto, M.
| +11
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6
Targeted literature review exploring the predictive value of estimated glomerular filtration rate and left ventricular mass index as indicators of clinical events in Fabry disease
enthalten in:
Orphanet journal of rare diseases
| 2023
von
Haycroft, B.
|
Stevenson, A.
|
Stork, R.
| +4
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7
Global reach of over 20 years of experience in the patient-centered Fabry Registry : Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community
enthalten in:
Molecular genetics and metabolism
| 2023
von
Wanner, C.
|
Ortiz, A.
|
Wilcox, W.
| +14
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8
An expert consensus on the recommendations for the use of biomarkers in Fabry disease
enthalten in:
Molecular genetics and metabolism
| 2023
von
Burlina, A.
|
Brand, E.
|
Hughes, D.
| +6
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9
Screening for Fabry disease in a series of Parkinson's disease patients and literature review
enthalten in:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
| 2023
von
Perillo, S.
|
Palmieri, G.
|
Del Moral, M.
| +7
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10
How relevant are cerebral white matter lesions in the D313Y variant of the α-galactosidase A gene? Neurological, cardiological, laboratory, and MRI data of 21 patients within a follow-up of 3 years
enthalten in:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
| 2023
von
Strunk, D.
|
Becker, J.
|
Veltkamp, R.
| +6
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Thema: Review
Medienart
312
Aufsätze
180
E-Artikel
180
E-Ressourcen
132
Gedruckte Aufsätze
Zeitschriftentitel
10
International journal of molecular sciences
10
Molecular genetics and metabolism
8
Presse medicale (Paris, France : 1983)
7
Current pharmaceutical design
7
Orphanet journal of rare diseases
6
Nihon rinsho. Japanese journal of clinical medi...
5
Genetics in medicine : official journal of the ...
5
Journal of the American Society of Nephrology :...
4
Giornale italiano di nefrologia : organo uffici...
4
Journal de la Societe de biologie
4
Journal of inherited metabolic disease
4
Journal of nephrology
4
Medizinische Klinik (Munich, Germany : 1983)
4
Nihon Naika Gakkai zasshi. The Journal of the J...
3
Acta paediatrica (Oslo, Norway : 1992)
3
Acta paediatrica (Oslo, Norway : 1992). Supplement
3
BioDrugs : clinical immunotherapeutics, biophar...
3
Clinical nephrology
3
Current medicinal chemistry
3
Drugs
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Thema
Review
305
Journal Article
297
EC 3.2.1.22
297
alpha-Galactosidase
76
Isoenzymes
62
Research Support, Non-U.S. Gov't
59
Fabry disease
59
agalsidase beta
58
RZD65TSM9U
57
Recombinant Proteins
40
Trihexosylceramides
39
71965-57-6
39
globotriaosylceramide
34
2HLC17MX9G
34
agalsidase alfa
29
English Abstract
20
Case Reports
16
Glycosphingolipids
16
enzyme replacement therapy
15
EC 3.2.1.-
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