Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls. [electronic resource]
Producer: 20191029Description: 837-841 p. digitalISSN:- 1530-0447
- Adult
- Argentina -- epidemiology
- Child
- Child, Preschool
- Collagen Type VI -- genetics
- Congenital Disorders of Glycosylation -- diagnosis
- Exome
- Female
- Galactosemias -- metabolism
- Genetic Predisposition to Disease
- Genetic Testing
- Genetic Variation
- Glycolipids -- metabolism
- Glycoproteins -- metabolism
- Glycosylation
- Homozygote
- Humans
- Infant
- Infant, Newborn
- Isoelectric Focusing
- Male
- Mass Screening -- methods
- Neonatal Screening -- methods
- Phenotype
- Sequence Analysis, DNA
- Transferrin -- metabolism
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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