| Literature DB >> 28667724 |
Jyotindra Narayan Goswami1, Naveen Sankhyan, Pratibha D Singhi.
Abstract
BACKGROUND: Tyrosine Hydroxylase deficiency is a rare neurotransmitter disorder. CASE CHARACTERISTICS: An Indian family with the disorder. OBSERVATIONS: Phenotypic variation, elevated serum prolactin, genetic confirmation, and partial treatment-responsiveness. MESSAGE: Tyrosine Hydroxylase deficiency is a treatable inborn error of metabolism and serum prolactin assists in diagnosis.Entities:
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Year: 2017 PMID： 28667724 DOI： 10.1007/s13312-017-1055-9
Source DB: PubMed Journal: Indian Pediatr ISSN： 0019-6061 Impact factor: 1.411