Prenatal Diagnosis of Inborn Errors of Metabolism
Author:
Publisher
Elsevier BV
Subject
Obstetrics and Gynecology,Pediatrics, Perinatology and Child Health
Reference121 articles.
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3. Mannosidosis: Phenotype of a severely affected child and characterization of α-mannosidase activity in cultured fibroblasts from the patient and his parents;Aylsworth;J. Pediat.,1976
4. The defect in the Hunter syndrome: Deficiency of sulfoiduronate sulfatase;Bach;Proc. Nat. Acad. Sei. U.S.A.,1973
5. The defect in the Hurler and Scheie syndromes: Deficiency of an α-L-iduronidase;Bach;Proc. Nat. Acad. Sei. U.S.A.,1972
Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. 10 Metabolic acidosis in the newborn period;Clinics in Endocrinology and Metabolism;1983-07
2. Inborn Errors of Metabolism;Clinical Biochemistry;1982
3. Prenatal diagnosis—A compilation of diagnosed conditions;American Journal of Obstetrics and Gynecology;1981-10
4. Antenatal Diagnosis of Haemoglobinopathies, Haemophilia, Von Willebrand’s Disease, Duchenne’s Muscular Dystrophy, and Chronic Granulomatous Disease by Fetal Blood Analysis;Clinics in Obstetrics and Gynaecology;1980-04
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