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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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Detaylı Bibliyografya
Asıl Yazarlar: Sunita Bijarnia‐Mahay, Vivek Jain, Beat Thöny
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Wiley 2020-05-01
Seri Bilgileri:JIMD Reports
Konular:
Online Erişim:https://doi.org/10.1002/jmd2.12111
Etiketler: Etiketle
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