Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment-Reference-Cited by-同舟云学术

Rare Diseases: Implementation of Molecular Diagnosis, Pathogenesis Insights and Precision Medicine Treatment

Published:2023-05-22 Issue:10 Volume:24 Page:9064
ISSN:1422-0067
Container-title:International Journal of Molecular Sciences
language:en
Short-container-title:IJMS

Author:

Larizza Lidia¹^ORCID,Cubellis Maria Vittoria²³⁴^ORCID

Affiliation:

1. Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, 20145 Milan, Italy

2. Dipartimento di Biologia, Università Federico II, 80126 Naples, Italy

3. Biology and Evolution of Marine Organisms, Stazione Zoologica Anton Dohrn, Villa Comunale, 80121 Naples, Italy

4. Istituto di Chimica Biomolecolare—CNR, 80078 Pozzuoli, Italy

Abstract

Rare Diseases (RD) do not have an exact definition since local authorities define the criteria in different ways, from fewer than 5 people in 10,000, according to the European Union, to the standard world average of 40 cases per 100,000 people [...]

Publisher

MDPI AG

Subject

Inorganic Chemistry,Organic Chemistry,Physical and Theoretical Chemistry,Computer Science Applications,Spectroscopy,Molecular Biology,General Medicine,Catalysis

Link

https://www.mdpi.com/1422-0067/24/10/9064/pdf

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4. Stakeholders’ Views on Drug Development: The Congenital Disorders of Glycosylation Community Perspective;Monticelli;Orphanet J. Rare Dis.,2022

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