نتایج جستجو برای: larsson syndrome

تعداد نتایج: 622429  

2012
Paul Alan Wetter

With such a mentor, we are pushed to become much more than we could have been, to strive to achieve beyond ourselves. Carl exemplified this in his character not only for SLS and me but also in other organizations and places, such as AAGL, in Milwaukee, at Baylor, in San Francisco, and ultimately at Stanford. He influenced many leaders in the field today. To name just a few: Camran Nezhat, Rober...

Journal: :Journal of deaf studies and deaf education 2012
Trevor Johnston

Measures of lexical frequency presuppose the existence of corpora, but true machine-readable corpora of sign languages (SLs) are only now being created. Lexical frequency ratings for SLs are needed because there has been a heavy reliance on the interpretation of results of psycholinguistic and neurolinguistic experiments in the SL research literature; yet, these experiments have been conducted ...

Journal: :Cutis 2006
Alessandra B Alió Lynne M Bird Scott D McClellan Bari B Cunningham

Sjögren-Larsson syndrome (SLS) is an autosomal recessive neurocutaneous disorder most commonly seen in the Scandinavian population and characterized by congenital ichthyosis, mental retardation, and spastic diplegia or quadriplegia. We report a case of SLS in an 11-month-old girl of Lebanese and Mexican-Syrian ancestry who presented with ichthyosis, developmental delay, and spasticity. Results ...

Journal: :Revista Brasileira de Oftalmologia 2011

Journal: :Molecular genetics and metabolism 2011
Holly Engelstad Gael Carney Dana S'aulis Janae Rise Warren G Sanger M Katharine Rudd Gabriele Richard Christopher W Carr Omar A Abdul-Rahman William B Rizzo

Sjögren-Larsson syndrome (SLS) is an autosomal recessive disorder characterized by ichthyosis, mental retardation, spasticity and mutations in the ALDH3A2 gene for fatty aldehyde dehydrogenase, an enzyme that catalyzes the oxidation of fatty aldehyde to fatty acid. More than 70 mutations have been identified in SLS patients, including small deletions or insertions, missense mutations, splicing ...

2017
Yang Tang Rex A. Moats

The increased incidence of obesity and well-documented co-morbidities, have lead to the recognition that obesity is a public health epidemic (Mann, 1974; Larsson et al., 1984). Excess adipose tissue is a high risk factor for cardiovascular and metabolic syndrome (Manson et al, 1990). These two diseases both rank high on the list of leading causes of morbidity and mortality not only in the devel...

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