Congenital disorder of glycosylation (CDG) type Ie. A new patient. [electronic resource]
Producer: 20050324Description: 591-600 p. digitalISSN:- 0141-8955
- Brain -- pathology
- Carbohydrate Metabolism, Inborn Errors -- classification
- Child
- Developmental Disabilities -- genetics
- Exons
- Facies
- Female
- Fibroblasts -- metabolism
- Gene Deletion
- Heterozygote
- Homozygote
- Humans
- Lipopolysaccharides -- analysis
- Magnetic Resonance Imaging
- Male
- Mannosyltransferases -- deficiency
- Microcephaly -- genetics
- Mutation
- Optic Atrophy -- genetics
- Tomography, X-Ray Computed
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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