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Histidinemia. Classical and atypical form in siblings
- Source :
- American journal of diseases of children (1960). 129(7)
- Publication Year :
- 1975
-
Abstract
- Two brothers, 6 and 13 years old, had histidinemia. On the basis of clinical and biochemical observations, the younger boy was considered to have a classical type of the disease, while the older boy had an atypical form characterized by partial impairment of the skin histidase activity and a moderately prolonged half-life of blood histidine. The mother is a heterozygous carrier, while the father and sister seem to be normal.
- Subjects :
- Male
Pediatrics
medicine.medical_specialty
Heterozygote
Adolescent
Histidine Metabolism
Sister
Diagnosis, Differential
medicine
Humans
Histidine
Heterozygous carrier
Histidine Ammonia-Lyase
Child
Amino Acid Metabolism, Inborn Errors
Skin
business.industry
Histidase activity
Histidinemia
medicine.disease
Classical type
Pedigree
Differential diagnosis
business
Histidine ammonia-lyase
Half-Life
Subjects
Details
- ISSN :
- 0002922X
- Volume :
- 129
- Issue :
- 7
- Database :
- OpenAIRE
- Journal :
- American journal of diseases of children (1960)
- Accession number :
- edsair.doi.dedup.....89b7ab748ccdba8570db8619b1da7c6a