Title : Hypotonic male infant and MCT 8 deficiency - a diagnosis to think about 1 2 Authors ’ name and affiliations :
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Hypotonic male infant and MCT8 deficiency - a diagnosis to think about
BACKGROUND Thyroid hormone is crucial in the development of different organs, particularly the brain. MCT8 is a specific transporter of triiodothyronine (T3) hormone and MCT8 gene mutations cause a rare X-linked disorder named MCT8 deficiency, also known as Allan-Herndon-Dudley syndrome, characterized by psychomotor retardation and hypotonia. Typically, elevation of T3 and delayed myelination i...
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Title page 1 Title: Facultative adjustment of paternal care in the face of female infidelity in dunnocks. 2 Authors' names: Eduardo S. A. Santos 2* and Shinichi Nakagawa 3 3 Affiliations: 1 Department of Zoology, 340 Great King Street, University of Otago, Dunedin, New 4 Zealand. 2 BECO do Departamento de Zoologia, Universidade de São Paulo, São Paulo, Brazil. 3 5 Evolution & Ecology Research C...
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Introduction Biotinidase deficiency is a life threatening inborn error of metabolism specially when delayed in diagnosis. We report a 2-month-old male infant that presented with refractory infantile spasm, alopecia and seborrheic dermatitis. With a high suspicion of the biotinidase deficiency we started biotin 10 mg daily orally before definite diagnosis was made. Rapid treatment was life-savin...
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1 Title: Not so primitive: Context sensitive meta-learning about unattended sound 1 sequences. 2 Running Title: Context sensitive meta-learning 3 Author names and affiliations (in order of importance): 4 Juanita TODD Alexander PROVOST , Lisa WHITSON, Gavin COOPER , Andrew 5 HEATHCOTE 6 7 1. School of Psychology 8 University of Newcastle 9 University Drive, Callaghan, NSW, Australia, 2308. 10 2....
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تاریخ انتشار 2014