Found: 9
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Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.
- Published in:
- 2014
- By:
- Publication type:
- Letter to the Editor
Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Equine Type Estrogens Produced by a Pregnant Woman Carrying a Smith-Lemli-Opitz Syndrome Fetus.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 1999, v. 84, n. 3, p. 1157, doi. 10.1210/jcem.84.3.5660
- By:
- Publication type:
- Article
Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits.
- Published in:
- Translational Psychiatry, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41398-021-01580-8
- By:
- Publication type:
- Article
Cholesterol Metabolism Is Required for Intracellular Hedgehog Signal Transduction In Vivo.
- Published in:
- PLoS Genetics, 2011, v. 7, n. 9, p. 1, doi. 10.1371/journal.pgen.1002224
- By:
- Publication type:
- Article
Identifying Smith-Lemli-Opitz syndrome in conjunction with prenatal screening for Down syndrome.
- Published in:
- Prenatal Diagnosis, 2006, v. 26, n. 9, p. 842, doi. 10.1002/pd.1518
- By:
- Publication type:
- Article
Short-term response to dietary therapy in molybdenum cofactor deficiency.
- Published in:
- 1993
- By:
- Publication type:
- journal article
Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 9, p. 1493
- By:
- Publication type:
- Article