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The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease
CONCLUSION: In this review, the worldwide experience of an international group of experts of Fabry disease highlights the issues faced in the family genetic testing of patients affected with rare genetic diseases.PMID:33835733 | DOI:10.1002/mgg3.1666
Source: Molecular Medicine - April 9, 2021 Category: Molecular Biology Authors: Dominique P Germain Sergey Moiseev Fernando Su árez-Obando Faisal Al Ismaili Huda Al Khawaja Gheona Altarescu Fellype C Barreto Farid Haddoum Fatemeh Hadipour Irina Maksimova Mirelle Kramis Sheela Nampoothiri Khanh Ngoc Nguyen Dau-Ming Niu Juan Politei L Source Type: research

Homocysteine, hyperhomocysteinemia and vascular contributions to cognitive impairment and dementia (VCID)
Publication date: Available online 9 December 2015 Source:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease Author(s): Atticus H. Hainsworth, Natalie E. Yeo, Erica M. Weekman, Donna M. Wilcock Homocysteine is produced physiologically in all cells, and is present in plasma of healthy individuals (plasma [HCy]: 3-10μM). While rare genetic mutations (CBS, MTHFR) cause severe hyperhomocysteinemia ([HCy]: 100-200μM), mild-moderate hyperhomocysteinemia ([HCy]: 10-100μM) is common in older people, and is an independent risk factor for stroke and cognitive impairment. As B-vitamin supplementation (B6, B12 a...
Source: Biochimica et Biophysica Acta (BBA) Molecular Basis of Disease - December 11, 2015 Category: Molecular Biology Source Type: research