Prenatal Diagnosis of Lysosomal Storage Disorders by Enzymes Study Using Chorionic Villus and Amniotic Fluid
Author:
Publisher
Springer Science and Business Media LLC
Subject
General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s40556-014-0001-3.pdf
Reference25 articles.
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3. Whiteman P, Henderson H. A method for the determination of amniotic fluid glycosaminoglycans and its application for prenatal diagnosis of Hurler and Sanfilippo disease. Clin Chim Acta. 1977;79(1):99–105.
4. Ramsay S, Maire I, Bindloss C, Fuller M, Whitfield P, Piraud M, et al. Determination of oligosaccharide and glycolipids in amniotic fluid by electroscopy ionization tandem mass spectrometry: in utero indicator of lysosomal storage disease. Mol Genet Metab. 2004;84(3):231–8.
5. Risch N, Tang H, Katzenstein H, Ekstein J. Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection. Am J Hum Genet. 2003;72(4):812–22.
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1. Lysosomal storage disorders: from biology to the clinic with reference to India;The Lancet Regional Health - Southeast Asia;2023-02
2. Prenatal Diagnosis of Lysosomal Storage Disorders Using Chorionic Villi;Methods in Molecular Biology;2017
3. Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience;JIMD Reports;2016-12-08
4. Fetal Medicine in India: Taking Stock of 2015, and Planning for 2016 at the Journal of Fetal Medicine;Journal of Fetal Medicine;2016-02-19
5. Lysosomal storage disorders in Indian children with neuroregression attending a genetic center;Indian Pediatrics;2015-12
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