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Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient
Abstract Tyrosine hydroxylase deficiency is a rare autosomal recessive, treatable disorder of neurotransmission. Fewer than 100 cases have been reported so far. We present a case of a 10‐month‐old infant who was symptomatic since 5 months of age and who received an initial diagnosis of infantile tre...
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| Główni autorzy: | , , |
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| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Wiley
2020-05-01
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| Seria: | JIMD Reports |
| Hasła przedmiotowe: | |
| Dostęp online: | https://doi.org/10.1002/jmd2.12111 |
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