A method for the determination of amniotic-fluid glycosaminoglycans and its application to the prenatal diagnosis of hurler and sanfilippo diseases
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference14 articles.
1. Intrauterine Diagnosis of the Hurler and Hunter Syndromes
2. Sanfilippo A disease in the fetus
3. A CHEMICAL METHOD FOR THE ANTENATAL DIAGNOSIS OF MUCOPOLYSACCHARIDOSES
4. Early Prenatal Diagnosis of Hurler's Syndrome with Termination of Pregnancy and Confirmatory Findings on the Fetus
5. PRENATAL DIAGNOSIS OF MUCOPOLYSACCHARIDOSES
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1. Novel gene-specific Bayesian Gaussian mixture model to predict the missense variants pathogenicity of Sanfilippo syndrome;Scientific Reports;2024-05-27
2. Newborn screening for mucopolysaccharidoses: Measurement of glycosaminoglycans by LC-MS/MS;Molecular Genetics and Metabolism Reports;2020-03
3. Identification of Three Novel Homozygous NAGLU Mutations in Egyptian Patients with Sanfilippo Syndrome B;Meta Gene;2019-09
4. Early prenatal diagnosis of lysosomal storage disorders by enzymatic and molecular analysis;Prenatal Diagnosis;2018-07-17
5. Amniotic fluid glycosaminoglycans in the prenatal diagnosis of mucopolysaccharidoses - A useful biomarker;Clinica Chimica Acta;2016-09
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