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Literature DB >> 33445477

Biomarkers in Rare Diseases.

Abstract

There is no single global definition of a rare disease, and for different geographical areas the definition is based on the disease occurrence in that population [...].

Entities: Chemical Disease Gene Species

Mesh：

Substances：
Biomarkers

Year: 2021 PMID： 33445477 PMCID： PMC7827027 DOI： 10.3390/ijms22020673

Source DB: PubMed Journal: Int J Mol Sci ISSN： 1422-0067 Impact factor: 5.923

15 in total

Review 1. Biomarkers in Rare Demyelinating Disease of the Central Nervous System.

Authors: Marina Boziki; Styliani-Aggeliki Sintila; Panagiotis Ioannidis; Nikolaos Grigoriadis
Journal: Int J Mol Sci Date: 2020-11-09 Impact factor: 5.923

Review 2. The Emerging and Diverse Roles of Bis(monoacylglycero) Phosphate Lipids in Cellular Physiology and Disease.

Authors: Megan R Showalter; Anastasia L Berg; Alexander Nagourney; Hailey Heil; Kermit L Carraway; Oliver Fiehn
Journal: Int J Mol Sci Date: 2020-10-29 Impact factor: 5.923

Review 3. Key Players and Biomarkers of the Adaptive Immune System in the Pathogenesis of Sarcoidosis.

Authors: Emily-Rose Zhou; Sergio Arce
Journal: Int J Mol Sci Date: 2020-10-07 Impact factor: 5.923

4. ChIP-Seq-Based Approach in Mouse Enteric Precursor Cells Reveals New Potential Genes with a Role in Enteric Nervous System Development and Hirschsprung Disease.

Authors: Leticia Villalba-Benito; Ana Torroglosa; Berta Luzón-Toro; Raquel María Fernández; María José Moya-Jiménez; Guillermo Antiñolo; Salud Borrego
Journal: Int J Mol Sci Date: 2020-11-28 Impact factor: 5.923

5. Identification of New Potential LncRNA Biomarkers in Hirschsprung Disease.

Authors: Ana Torroglosa; Leticia Villalba-Benito; Raquel María Fernández; Berta Luzón-Toro; María José Moya-Jiménez; Guillermo Antiñolo; Salud Borrego
Journal: Int J Mol Sci Date: 2020-08-02 Impact factor: 5.923

6. Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles.

Authors: Michel Boutin; Pamela Lavoie; Iskren Menkovic; Amanda Toupin; Mona Abaoui; Maha Elidrissi-Elawad; Marie-Françoise Arthus; Carole Fortier; Claudia Ménard; Bruno Maranda; Daniel G Bichet; Christiane Auray-Blais
Journal: Int J Mol Sci Date: 2020-08-25 Impact factor: 5.923

7. Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach.

Authors: Iskren Menkovic; Michel Boutin; Abdulfatah Alayoubi; François E Mercier; Georges-Étienne Rivard; Christiane Auray-Blais
Journal: Int J Mol Sci Date: 2020-10-23 Impact factor: 5.923

Review 8. Biomarkers Suggesting Favorable Prognostic Outcomes in Sudden Sensorineural Hearing Loss.

Authors: Jeon Gang Doo; Dokyoung Kim; Yong Kim; Myung Chul Yoo; Sung Su Kim; Jeewon Ryu; Seung Geun Yeo
Journal: Int J Mol Sci Date: 2020-09-30 Impact factor: 5.923

Review 9. The Progression of Hemophilic Arthropathy: The Role of Biomarkers.

Authors: Gianluigi Pasta; Salvatore Annunziata; Alberto Polizzi; Laura Caliogna; Eugenio Jannelli; Alessandro Minen; Mario Mosconi; Francesco Benazzo; Matteo Nicola Dario Di Minno
Journal: Int J Mol Sci Date: 2020-10-02 Impact factor: 5.923

10. The Role of CASC2 and miR-21 Interplay in Glioma Malignancy and Patient Outcome.

Authors: Daina Skiriute; Rytis Stakaitis; Giedrius Steponaitis; Arimantas Tamasauskas; Paulina Vaitkiene
Journal: Int J Mol Sci Date: 2020-10-27 Impact factor: 5.923

3 in total

1. Circulating miRNAs as Biomarkers for Mitochondrial Neuro-Gastrointestinal Encephalomyopathy.

Authors: Mark Mencias; Michelle Levene; Kevin Blighe; Bridget E Bax
Journal: Int J Mol Sci Date: 2021-04-01 Impact factor: 5.923

2. A questionnaire-based study to comprehensively assess the status quo of rare disease patients and care-givers in China.

Authors: Xuefeng Li; Meiling Liu; Jinduan Lin; Bingzhe Li; Xiangyu Zhang; Shu Zhang; Zijuan Lu; Jianyong Zhang; Jincheng Zhou; Li Ou
Journal: Orphanet J Rare Dis Date: 2021-07-22 Impact factor: 4.123

Review 3. A systematic review of the natural history and biomarkers of primary lecithin:cholesterol acyltransferase deficiency.

Authors: Cecilia Vitali; Archna Bajaj; Christina Nguyen; Jill Schnall; Jinbo Chen; Kostas Stylianou; Daniel J Rader; Marina Cuchel
Journal: J Lipid Res Date: 2022-01-20 Impact factor: 5.922

3 in total