Reduction of stratum corneum ceramides in Neu-Laxova syndrome caused by phosphoglycerate dehydrogenase deficiency. [electronic resource]
Producer: 20190902Description: 2413-2420 p. digitalISSN:- 1539-7262
- Abnormalities, Multiple -- metabolism
- Adult
- Amino Acids -- metabolism
- Brain Diseases -- metabolism
- Carbohydrate Metabolism, Inborn Errors -- metabolism
- Ceramides -- metabolism
- Female
- Fetal Growth Retardation -- metabolism
- Gestational Age
- Humans
- Ichthyosis -- metabolism
- Immunohistochemistry
- Infant, Newborn
- Limb Deformities, Congenital -- metabolism
- Male
- Microcephaly -- metabolism
- Phosphoglycerate Dehydrogenase -- deficiency
- Pregnancy
- Psychomotor Disorders -- metabolism
- Seizures -- metabolism
- Sphingolipids -- metabolism
- Exome Sequencing
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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