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Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient
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 tremor syndr...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203656/ https://www.ncbi.nlm.nih.gov/pubmed/32395404 http://dx.doi.org/10.1002/jmd2.12111 |