(Q41927738)

English

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes

scientific article published on August 1996

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Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz and the lethal acrodysgenital syndromes (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

author name string

V Cormier-Daire

1

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

C Wolf

2

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

A Munnich

3

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

M Le Merrer

4

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

A Nivelon

5

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

D Bonneau

6

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

H Journel

7

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

F Fellmann

8

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

F Chevy

9

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

C Roux

10

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

publication date

1 August 1996

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

European Journal of Pediatrics

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

155

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

8

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

656-659

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

Gonadal function in Smith-Lemli-Opitz syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8839719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal cholesterol metabolism in the Smith-Lemli-Opitz syndrome: report of clinical and biochemical findings in four patients and treatment in one patient

1 reference

https://pubmed.ncbi.nlm.nih.gov/8839719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Smith-Lemli-Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: probable disruption of an SLOS gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8839719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8839719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lethal acrodysgenital dwarfism: a severe lethal condition resembling Smith-Lemli-Opitz syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8839719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TERATOGENIC ACTION OF TRIPARANOL IN ANIMALS

1 reference

https://pubmed.ncbi.nlm.nih.gov/8839719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Teratogenic Effect of an Inhibitor of Cholesterol Synthesis (AY 9944) in Rats: Correlation with Maternal Cholesterolemia

1 reference

https://pubmed.ncbi.nlm.nih.gov/8839719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correlation of severity and outcome with plasma sterol levels in variants of the Smith-Lemli-Opitz syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8839719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypothalamic-pituitary-gonadal function in two infants with Smith-Lemli-Opitz syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8839719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Interpretation of isolated agenesis of the pituitary

1 reference

https://pubmed.ncbi.nlm.nih.gov/8839719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical and biochemical phenotype in 11 patients with mevalonic aciduria.

1 reference

https://pubmed.ncbi.nlm.nih.gov/8839719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cytogenetic findings indicate heterogeneity in patients with blepharophimosis, epicanthus inversus, and developmental delay

1 reference

https://pubmed.ncbi.nlm.nih.gov/8839719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cholesterol metabolism in the RSH/Smith‐Lemli‐Opitz syndrome: Summary of an NICHD conference

1 reference

https://pubmed.ncbi.nlm.nih.gov/8839719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/8839719

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S004310050462

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 October 2017

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