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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: Sunita Bijarnia‐Mahay, Vivek Jain, Beat Thöny
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Wiley 2020-05-01
श्रृंखला:JIMD Reports
विषय:
ऑनलाइन पहुंच:https://doi.org/10.1002/jmd2.12111
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