Prenatal diagnosis of lysosomal storage diseases
Author:
Affiliation:
1. The Adelaide Children's Hospital North Adelaide SA S006
Publisher
AMPCo
Subject
General Medicine
Link
https://onlinelibrary.wiley.com/doi/pdf/10.5694/j.1326-5377.1984.tb103995.x
Reference23 articles.
1. White-Cell β-Galactosidase Activity
2. VARIABILITY OF FIBROBLAST LYSOSOMAL ACID HYDROLASES WITH REFERENCE TO THE DETECTION OF ENZYME DEFICIENCIES
3. Tay-Sachs Disease: Prenatal Diagnosis
4. Lysosomal enzymes in medium from cultured skin fibroblasts from normal individuals and patients with lysosomal diseases
5. Biochemical diagnosis of cystinosis using cultured cells
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2. Spectrum of lysosomal storage disorders at a medical genetics center in Northern India;Indian Pediatrics;2012-03-30
3. Stem Cell Therapies for the Lysosomal Storage Diseases – the Quintessential Neurodegenerative Diseases;Current Stem Cell Research & Therapy;2008-05-01
4. Prenatal Diagnosis Reveals the Relative Frequencies of Lysosomal Storage Diseases in Japan;Congenital Anomalies;1992-06
5. Prenatal diagnosis of Zellweger syndrome and related disorders: Impaired degradation of phytanic acid;European Journal of Pediatrics;1986-12
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