Altered Cerebrospinal Fluid Proteins in Smith–Lemli–Opitz Syndrome

Smith–Lemli–Opitz Syndrome (SLOS) is a rare, autosomal recessive, neurocognitive disorder caused by pathological variants in the 7-dehydrocholesterol reductase gene (<i>DHCR7</i>), leading to impaired cholesterol biosynthesis. The biochemical results of these defects include the accumula...

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第一著者:	Wenping Li (440398) (author)
その他の著者:	Melissa R. Pergande (5019329) (author), Fidel Serna-Perez (14796267) (author), Vinayak Patel (21686172) (author), Christopher A. Crutchfield (1520620) (author), Brian C. Searle (1520617) (author), Jaqueline A. Picache (1520608) (author), Nicole M. Farhat (13720443) (author), Christopher A. Wassif (125679) (author), Peter S. Backlund (125656) (author), Simona Bianconi (3472130) (author), Karel Pacak (63357) (author), Bethany A. Freel (21686175) (author), Kevin R. Francis (11974471) (author), Forbes D. Porter (125687) (author), Stephanie M. Cologna (125652) (author)
出版事項:	2025
主題:	Biochemistry Medicine Genetics Molecular Biology Neuroscience Pharmacology Virology reelin signaling pathway based mass spectrometry assessing therapeutic efficacy typically reduced cholesterol impaired cholesterol biosynthesis neurocognitive disorder caused slos individuals compared cholesterol precursor neurocognitive impairments utilized discovery unaffected controls slos present reliable biomarkers potential biomarkers pathological variants dopamine excretion disease ’ dhcr7 </ dhc ), developmental anomalies defects include curative treatment could serve cerebrospinal fluid biochemical results better understand autosomal recessive >), leading
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Altered Cerebrospinal Fluid Proteins in Smith–Lemli–Opitz Syndrome

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