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2009 | 1 |
2013 | 1 |
2019 | 1 |
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Sterol metabolism disorders and neurodevelopment-an update.
Dev Disabil Res Rev. 2013;17(3):197-210. doi: 10.1002/ddrr.1114.
Dev Disabil Res Rev. 2013.
PMID: 23798009
Review.
In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that underlie the clinical presentations and course of Smith-Lemli-Opitz Syndrome (SLOS), mevalonic aciduria (MVA) or the milder version hype …
In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that und …
Anti-Ku syndrome with elevated CK and anti-Ku syndrome with anti-dsDNA are two distinct entities with different outcomes.
Spielmann L, Nespola B, Séverac F, Andres E, Kessler R, Guffroy A, Poindron V, Martin T, Geny B, Sibilia J, Meyer A.
Spielmann L, et al.
Ann Rheum Dis. 2019 Aug;78(8):1101-1106. doi: 10.1136/annrheumdis-2018-214439. Epub 2019 May 24.
Ann Rheum Dis. 2019.
PMID: 31126956
METHODS: Among 42 consecutive patients harbouring anti-Ku antibodies, subgroups with similar phenotypes and prognosis were delineated without an a priori diagnosis using hierarchical clustering analysis of the cumulative clinico-biological features recorded during the foll …
METHODS: Among 42 consecutive patients harbouring anti-Ku antibodies, subgroups with similar phenotypes and prognosis were delineated …
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Characterization of a new X-linked mental retardation syndrome with microcephaly, cortical malformation, and thin habitus.
du Souich C, Chou A, Yin J, Oh T, Nelson TN, Hurlburt J, Arbour L, Friedlander R, McGillivray BC, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF.
du Souich C, et al.
Am J Med Genet A. 2009 Nov;149A(11):2469-78. doi: 10.1002/ajmg.a.33071.
Am J Med Genet A. 2009.
PMID: 19842190
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