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Literature DB >> 10678669

Incidence of Smith-Lemli-Opitz syndrome in Slovakia.

V Bzdúch, D Behúlová, J Skodová.

Abstract

Entities: Disease

Mesh：

Year: 2000 PMID： 10678669 DOI： 10.1002/(sici)1096-8628(20000131)90:3<260::aid-ajmg17>3.3.co;2-i

Source DB: PubMed Journal: Am J Med Genet ISSN： 0148-7299

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Cited

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12 in total

Review 1. Malformation syndromes caused by disorders of cholesterol synthesis.

Authors: Forbes D Porter; Gail E Herman
Journal: J Lipid Res Date: 2010-10-07 Impact factor: 5.922

Review 2. An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.

Authors: Fady Hannah-Shmouni; Constantine A Stratakis
Journal: Rev Endocr Metab Disord Date: 2018-03 Impact factor: 6.514

3. Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome.

Authors: Ryan W Y Lee; Shoko Yoshida; Eun Sol Jung; Susumu Mori; Eva H Baker; Forbes D Porter
Journal: Pediatr Neurol Date: 2013-08 Impact factor: 3.372

4. Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer.

Authors: Xavier Matabosch; Lee Ying; Montserrat Serra; Christopher A Wassif; Forbes D Porter; Cedric Shackleton; Gordon Watson
Journal: J Steroid Biochem Mol Biol Date: 2010-08-26 Impact factor: 4.292

5. Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome).

Authors: Josep Marcos; Cedric H L Shackleton; Madhavee M Buddhikot; Forbes D Porter; Gordon L Watson
Journal: Steroids Date: 2007-07-13 Impact factor: 2.668

10. Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors.

Authors: Lee Ying; Xavier Matabosch; Montserrat Serra; Berna Watson; Cedric Shackleton; Gordon Watson
Journal: Mol Genet Metab Rep Date: 2014

Incidence of Smith-Lemli-Opitz syndrome in Slovakia.

Review 1. Malformation syndromes caused by disorders of cholesterol synthesis.

Review 2. An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.

3. Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome.

4. Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer.

5. Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome).

6. Molecular screening of Smith-Lemli-Opitz syndrome in pregnant women from the Czech Republic.

7. Relation between biomarkers and clinical severity in patients with Smith-Lemli-Opitz syndrome.

8. Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndrome.

9. Hypothesis: the role of sterols in autism spectrum disorder.

10. Biochemical and Physiological Improvement in a Mouse Model of Smith-Lemli-Opitz Syndrome (SLOS) Following Gene Transfer with AAV Vectors.