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Specialty: General Medicine
Therapy: Gene Therapy

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Total 69 results found since Jan 2013.

Fabry disease - current data and therapeutic approaches
Rom J Morphol Embryol. 2021 Jan-Mar;62(1):5-11. doi: 10.47162/RJME.62.1.01.ABSTRACTFabry disease represents an X-linked inherited disorder resulting in the accumulation of globotriaosylceramide (Gb3). This review explains the clinical manifestations and the possible therapies for this condition. Fabry disease is considered the second most frequent lysosomal storage disease. More than 1000 mutations of the galactosidase alpha (GLA) gene associated with this disorder have been identified. Pain, either episodic crises or chronic pain, is one of the earliest symptoms in Fabry disease. Gastrointestinal, ocular, ear or skeletal ...
Source: Romanian Journal of Morphology and Embryology - October 5, 2021 Category: General Medicine Authors: Ilie Robert Dinu Ştefan George Firu Source Type: research

Mitochondrial Disorders
CONCLUSION: Patients with mitochondrial diseases have highly varied manifestations and can thus present to physicians in practically any branch of medicine. A correct diagnosis is the prerequisite for genetic counseling and for the initiation of personalized treatment.PMID:34158150 | DOI:10.3238/arztebl.m2021.0251
Source: Deutsches Arzteblatt International - June 23, 2021 Category: General Medicine Authors: Thomas Klopstock Claudia Priglinger Ali Yilmaz Cornelia Kornblum Felix Distelmaier Holger Prokisch Source Type: research

ADAMTS13 and von Willebrand Factor in Thrombotic Thrombocytopenic Purpura.
Abstract Pathogenesis of thrombotic thrombocytopenic purpura (TTP) was a mystery for over half a century until the discovery of ADAMTS13. ADAMTS13 is primarily synthesized in the liver, and its main function is to cleave von Willebrand factor (VWF) anchored on the endothelial surface, in circulation, and at the sites of vascular injury. Deficiency of plasma ADAMTS13 activity (<10%) resulting from mutations of the ADAMTS13 gene or autoantibodies against ADAMTS13 causes hereditary or acquired (idiopathic) TTP. ADAMTS13 activity is usually normal or modestly reduced (>20%) in other forms of thrombotic microangi...
Source: Annual Review of Medicine - January 14, 2015 Category: Journals (General) Authors: Zheng XL Tags: Annu Rev Med Source Type: research