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10.1186/s13023-016-0433-z http://scihub22266oqcxt.onion/10.1186/s13023-016-0433-z C4850685!4850685 !27129381     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=27129381 &cmd=llinks): Failed to open stream: HTTP request failed! HTTP/1.1 429 Too Many Requests in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 215 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 227.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 261.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\27129381 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Orphanet+J+Rare+Dis 2016 ; 11 (1 ): 52 Nephropedia Template TP {{tp|p=27129381 |t=2016. Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD |pdf=|usr=}}{{27129381 }} gab.com Text Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD JO: Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=27129381 #FOAvip Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) has been recently linked to biallelic mutation of the peptidyl-tRNA hydrolase 2 gene PTRH2. Two index patients with IMNEPD in the original report had multiple neurological symptoms such as postnatal microcephaly, intellectual disability, developmental delay, sensorineural deafness, cerebellar atrophy, ataxia, and peripheral neuropathy. In addition, distal muscle weakness and abnormalities of thyroid, pancreas, and liver were found. Here, we report five further IMNEPD patients with a different homozygous PTRH2 mutation, broaden the phenotypic spectrum of the disease and differentiate common symptoms and interindividual variability in IMNEPD associated with a unique mutation. We thereby hope to better define IMNEPD and promote recognition and diagnosis of this novel disease entity. Twit Text FOAVip Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD ????Orphanet J Rare Dis http://www.kidney.de/pget.php?&tw=1&pmid=27129381 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27129381 #FOAvip English Wikipedia <ref>{{Cite pmid|27129381 }}</ref> Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD #MMPMID27129381 Picker-Minh S ; Mignot C ; Doummar D ; Hashem M ; Faqeih E ; Josset P ; Dubern B ; Alkuraya FS ; Kraemer N ; Kaindl AM Orphanet J Rare Dis 2016[Apr]; 11 (1 ): 52 PMID27129381 show ga Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) has been recently linked to biallelic mutation of the peptidyl-tRNA hydrolase 2 gene PTRH2. Two index patients with IMNEPD in the original report had multiple neurological symptoms such as postnatal microcephaly, intellectual disability, developmental delay, sensorineural deafness, cerebellar atrophy, ataxia, and peripheral neuropathy. In addition, distal muscle weakness and abnormalities of thyroid, pancreas, and liver were found. Here, we report five further IMNEPD patients with a different homozygous PTRH2 mutation, broaden the phenotypic spectrum of the disease and differentiate common symptoms and interindividual variability in IMNEPD associated with a unique mutation. We thereby hope to better define IMNEPD and promote recognition and diagnosis of this novel disease entity. |*Gene Expression Regulation, Enzymologic [MESH] |Carboxylic Ester Hydrolases/*genetics/*metabolism [MESH] |Humans [MESH] |Mitochondrial Proteins/*genetics/*metabolism [MESH] |Mutation [MESH] |Pancreatic Diseases/*genetics/*pathology [MESH]Phenotype variability of infantile-onset multisystem neurologic, endoc(epmc).pdf DeepDyve Pubget Overpricing