Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Thomas Naidich"'
Autor:
Naomi Mayman, Jiangbo Wei, Shangjun Cai, Rohan Soman, Hillary Raynes, Maite La Vega-Talbott, Chuan He, Thomas Naidich, G. Praveen Raju, Sathiji Kathiresu Nageshwaran
Publikováno v:
SAGE Open Medical Case Reports, Vol 11 (2023)
The fat mass and obesity-associated gene ( FTO ) codes for a DNA/RNA demethylase. Pathological variants in this gene are rare, with only three reports in the literature, all with mutations in the catalytic domain. We report the first biallelic human
Externí odkaz:
https://doaj.org/article/f75930d2cefe4b9a8cd20f0a011b5c90
Autor:
Maria de Fátima Vasco Aragão, Meng Law, João Prola Netto, Marcelo Moraes Valença, Thomas Naidich
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 67, Iss 1, Pp 55-57 (2009)
In two children with near drowning hypoxic encephalopathy and normal-appearing structural MRI, acute proton magnetic resonance spectroscopy (¹H MRS) showed biochemical alterations that correctly indicated prognosis and helped to guide management dec
Externí odkaz:
https://doaj.org/article/c8cc669ead094da68466f23c97ac08dc
Publikováno v:
BJR|case reports.
Wernicke’s encephalopathy (WE) is a life-threatening neurologic disorder resulting from thiamine (vitamin B1) deficiency that can be secondary to chronic alcohol abuse, gastrointestinal surgery, systemic infectious and non-infectious diseases, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4769ae4ade4e2dd7eaaef520e78f3fd8
https://doi.org/10.1259/bjrcr.20220137
https://doi.org/10.1259/bjrcr.20220137
Autor:
Richard M. Pauli, Mary M. Conroy, Leonard O. Langer, David G. McLone, Thomas Naidich, Ralph Franciosi, Ian M. Ratner, Stephen C. Copps, John M. Opitz
Publikováno v:
American Journal of Medical Genetics. 16:459-473
Homozygous achondroplasia has been thought to be uniformly lethal in the neonatal period. We describe three children, born to achondroplastic parents, who were homozygous for this disorder but who survived beyond early infancy. Two died suddenly at 3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e6985e3a6fec4f72de2f8909550d41d3
https://doi.org/10.1002/ajmg.1320160404
https://doi.org/10.1002/ajmg.1320160404
Publikováno v:
Pediatric Neurosurgery. 15:39-43
In young achondroplastic children, neurological manifestations have been found to include macro-cephaly, hydrocephalus or ventriculomegaly and cervicomedullary compression. Occasionally in the second decade, lumbar radiculopathy or paraparesis result
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16320213ec25afbcbd6164eba9a93b31
https://doi.org/10.1159/000120439
https://doi.org/10.1159/000120439
Autor:
Brahim, Nait-Oumesmar, Barbara, Stecca, Girish, Fatterpekar, Thomas, Naidich, Joshua, Corbin, A, Lazzarini Robert
Publikováno v:
Development; August 2002, Vol. 129 Issue: 16 p3957-64, 8p