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About 293 results

ALLMedicine™ Smith-Lemli-Opitz Syndrome Center

Research & Reviews  109 results

Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
https://clinicaltrials.gov/ct2/show/NCT05047354

Jun 16th, 2022 - Study Description: The objective of this study is to characterize the natural history of Smith-Lemli-Opitz Syndrome (SLOS) and related disorders (such as lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata (CDPX2), CHILD ...

Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
https://clinicaltrials.gov/ct2/show/NCT00046202

Jun 16th, 2022 - Over the past 15 years, it has become clear that inborn errors of cholesterol synthesis give rise to human malformation/mental retardation syndromes. Smith-Lemli-Opitz syndrome is the prototypical example of a post-squalene inborn error of metabol...

Measurement of 7-dehydrocholesterol and cholesterol in hair can be used in the diagnosi...
https://doi.org/10.1016/j.jlr.2022.100228
Journal of Lipid Research; Luo Y, Zhang C et. al.

May 17th, 2022 - 7-dehydrocholesterol (7-DHC) and cholesterol (CHOL) are biomarkers of Smith-Lemli-Opitz Syndrome (SLOS), a congenital autosomal recessive disorder characterized by elevated 7-DHC level in patients. Hair samples have been shown to have great diagno...

Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-co...
https://doi.org/10.1016/j.ejmg.2022.104426
European Journal of Medical Genetics; Orlov IE, Laidus TA et. al.

Jan 14th, 2022 - Whole exome sequencing (WES) is a powerful tool for the cataloguing of population-specific genetic diseases. Within this proof-of-concept study we evaluated whether analysis of a small number of individual exomes is capable of identifying recurren...

Intellectual Disability Workup
http://emedicine.medscape.com/article/1180709-workup

Nov 16th, 2021 - Laboratory Studies The examiner must determine the nature and extent of the laboratory investigation following a history and physical examination. Recommendations have been made by both the American Academy of Pediatrics [24] and the American Acad...

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Clinicaltrials.gov  4 results

Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
https://clinicaltrials.gov/ct2/show/NCT05047354

Jun 16th, 2022 - Study Description: The objective of this study is to characterize the natural history of Smith-Lemli-Opitz Syndrome (SLOS) and related disorders (such as lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia punctata (CDPX2), CHILD ...

Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
https://clinicaltrials.gov/ct2/show/NCT00046202

Jun 16th, 2022 - Over the past 15 years, it has become clear that inborn errors of cholesterol synthesis give rise to human malformation/mental retardation syndromes. Smith-Lemli-Opitz syndrome is the prototypical example of a post-squalene inborn error of metabol...

Cholesterol in ASD: Characterization and Treatment
https://clinicaltrials.gov/ct2/show/NCT00965068

Jul 5th, 2018 - Pilot work suggests that some individuals with autism spectrum disorders (ASD) have very low blood cholesterol levels. This low cholesterol level and other abnormal sterol levels may be important markers for subtypes of ASD. The proposed trial aim...

Simvastatin Therapy in Smith-Lemli-Opitz Syndrome
https://clinicaltrials.gov/ct2/show/NCT00064792

Jun 6th, 2014 - Smith-Lemli-Opitz syndrome (SLOS, RSH, OMIM #270400) is an autosomal recessive, multiple malformation, mental retardation syndrome due to an inborn error of cholesterol biosynthesis. Specifically, these patients have a deficiency of 3 beta-hydroxy...

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News  4 results

Obstacles plague prenatal cell-free DNA testing use
https://www.mdedge.com/obgyn/article/135776/obstetrics/obstacles-plague-prenatal-cell-free-dna-testing-use
Kari Oakes

Apr 13th, 2017 - A recent California study examining cell-free DNA (cfDNA) testing suggests that the test generally performs well as a second-line screen for fetal aneuploidy. However, while the test itself is reliable, some physicians say gaps in patient educatio.

Universal carrier screening
https://www.mdedge.com/familymedicine/article/78608/universal-carrier-screening/page/0/1
Family Practice News;

Oct 31st, 2013 - Across all ethnic groups, the most common carrier frequencies for clinically significant disorders were for cystic fibrosis, DFNB1 nonsyndromic hearing loss and deafness, spinal muscular atrophy, familial Mediterranean fever, Smith-Lemli-Opitz syn.

Pyloric Stenosis Linked to Low Serum Lipids in Infants
https://www.medscape.com/viewarticle/809710

Aug 20th, 2013 - Low serum lipids are a risk factor for infantile hypertrophic pyloric stenosis (IHPS), according to a genetics study published in the August 20 issue of JAMA. A Multifactorial Condition Heritability exceeds 80% for IHPS, but little is known about ...

Consider Genetic Disorder in Some Milder Autism Cases
https://www.mdedge.com/psychiatry/article/21448/pediatrics/consider-genetic-disorder-some-milder-autism-cases
Linda Little

GRAPEVINE, TEX. – Physicians need to be alert to a cause of autism that might not be immediately apparent in milder cases, a Colorado pediatrician warned.

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