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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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Asıl Yazarlar: | , , |
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Materyal Türü: | Artigo |
Dil: | Inglês |
Baskı/Yayın Bilgisi: |
Wiley
2020-05-01
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Seri Bilgileri: | JIMD Reports |
Konular: | |
Online Erişim: | https://doi.org/10.1002/jmd2.12111 |
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