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Possible clinical and histologic manifestations of adult-onset type II citrullinemia in early infancy
- Source :
- The Journal of pediatrics. 138(5)
- Publication Year :
- 2001
-
Abstract
- We describe 2 patients with adult-onset type II citrullinemia who developed transient hypoproteinemia and jaundice in early infancy. Liver histology showed a marked fatty change and fibrosis. After the patients had lived without symptoms to the ages of 5 and 16 years, respectively, the diagnosis was made by genetic analysis.
- Subjects :
- Male
medicine.medical_specialty
Adolescent
Genotype
Biopsy
Gastroenterology
Polymerase Chain Reaction
Hypoproteinemia
Fibrosis
Internal medicine
medicine
Humans
Point Mutation
Citrullinemia
medicine.diagnostic_test
biology
business.industry
Fatty liver
Jaundice
medicine.disease
Fatty Liver
Endocrinology
Citrin
Liver
Child, Preschool
Pediatrics, Perinatology and Child Health
biology.protein
Histopathology
Female
medicine.symptom
business
Subjects
Details
- ISSN :
- 00223476
- Volume :
- 138
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- The Journal of pediatrics
- Accession number :
- edsair.doi.dedup.....36020fdfd04950e6ebe30adc1ca5f4cf