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10.5582/irdr.2016.01051 http://scihub22266oqcxt.onion/10.5582/irdr.2016.01051 C4995413!4995413!27672545     free     free     free Deprecated: Implicit conversion from float 217.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 217.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Intractable+Rare+Dis+Res 2016 ; 5 (3): 214-7 Nephropedia Template TP {{tp|p=27672545|t=2016. Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome |pdf=|usr=}}{{27672545}} gab.com Text Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome JO: Intractable Rare Dis Res http://www.kidney.de/pget.php?&tw=1&pmid=27672545 #FOAvip Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder caused by impaired thyroid hormone transporter. Patients with AHDS usually exhibit severe motor developmental delay, delayed myelination of the brain white matter, and elevated T3 levels in thyroid tests. Neurological examination of two patients with neurodevelopmental delay revealed generalized hypotonia, and not paresis, as the main neurological finding. Nystagmus and dyskinesia were not observed. Brain magnetic resonance imaging demonstrated delayed myelination in early childhood in both patients. Nevertheless, matured myelination was observed at 6 years of age in one patient. Although the key finding for AHDS is elevated free T3, one of the patients showed a normal T3 level in childhood, misleading the diagnosis of AHDS. Genetic analysis revealed two novel SLC16A2 mutations, p.(Gly122Val) and p.(Gly221Ser), confirming the AHDS diagnosis. These results indicate that AHDS diagnosis is sometimes challenging owing to clinical variability among patients. Twit Text FOAVip Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome ????Intractable Rare Dis Res http://www.kidney.de/pget.php?&tw=1&pmid=27672545 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27672545 #FOAvip English Wikipedia <ref>{{Cite pmid|27672545}}</ref> Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome #MMPMID27672545 Shimojima K; Maruyama K; Kikuchi M; Imai A; Inoue K; Yamamoto T Intractable Rare Dis Res 2016[Aug]; 5 (3): 214-7 PMID27672545show ga Allan-Herndon-Dudley syndrome (AHDS) is an X-linked disorder caused by impaired thyroid hormone transporter. Patients with AHDS usually exhibit severe motor developmental delay, delayed myelination of the brain white matter, and elevated T3 levels in thyroid tests. Neurological examination of two patients with neurodevelopmental delay revealed generalized hypotonia, and not paresis, as the main neurological finding. Nystagmus and dyskinesia were not observed. Brain magnetic resonance imaging demonstrated delayed myelination in early childhood in both patients. Nevertheless, matured myelination was observed at 6 years of age in one patient. Although the key finding for AHDS is elevated free T3, one of the patients showed a normal T3 level in childhood, misleading the diagnosis of AHDS. Genetic analysis revealed two novel SLC16A2 mutations, p.(Gly122Val) and p.(Gly221Ser), confirming the AHDS diagnosis. These results indicate that AHDS diagnosis is sometimes challenging owing to clinical variability among patients. äNovel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome(epmc).pdf DeepDyve Pubget Overpricing