Isolated autism is not an indication for Smith–Lemli–Opitz syndrome biochemical testing

2021 ◽  
Author(s):  
Peter A Kaub ◽  
Peter C Sharp ◽  
Enzo Ranieri ◽  
Janice M Fletcher
Keyword(s):  
Opitz Syndrome ◽  
Biochemical Testing

The role of plasma metanephrines and plasma catecholamines in the biochemical testing for Pheochromocytoma

2018 ◽  
Author(s):  
Kirsty Spence ◽  
Steven Hunter ◽  
Campbell Brown ◽  
Paul Thompson ◽  
Karen Mullan ◽  
...  
Keyword(s):  
Plasma Catecholamines ◽  
Biochemical Testing ◽  
Plasma Metanephrines

Smith-Lemli-Opitz syndrome with extremely low plasma cholesterol

2000 ◽  
Vol 23 (6) ◽  
pp. 638-639 ◽  
Author(s):  
V. Bzdúch ◽  
D. Behúlová ◽  
L. Kozák ◽  
J. Škodová ◽  
E. Véghová ◽  
...  
Keyword(s):  
Plasma Cholesterol ◽  
Opitz Syndrome

Incidence of Smith-Lemli-Opitz syndrome in Slovakia

2000 ◽  
Vol 90 (3) ◽  
pp. 260-260 ◽  
Author(s):  
Vladim�r Bzd�ch ◽  
Darina Beh�lov� ◽  
Jozef�na ?kodov�
Keyword(s):  
Opitz Syndrome

scholarly journals Auditory phenotype of Smith–Lemli–Opitz syndrome

2021 ◽  
Author(s):  
Christopher K. Zalewski ◽  
Sarah A. Sydlowski ◽  
Kelly A. King ◽  
Simona Bianconi ◽  
An Dang Do ◽  
...  
Keyword(s):  
Opitz Syndrome

scholarly journals Cholesterol deficit but not accumulation of aberrant sterols is the major cause of the teratogenic activity in the Smith-Lemli-Opitz syndrome animal model

2000 ◽  
Vol 41 (4) ◽  
pp. 637-646 ◽  
Author(s):  
Wassila Gaoua ◽  
Claude Wolf ◽  
Françoise Chevy ◽  
Françoise Ilien ◽  
Charles Roux
Keyword(s):  
Animal Model ◽  
Opitz Syndrome

Voltammetry of 7-dehydrocholesterol as a new and useful tool for Smith-Lemli-Opitz syndrome diagnosis

Talanta ◽  
2021 ◽  
pp. 122260
Author(s):  
Jan Klouda ◽  
Lenka Benešová ◽  
Pavel Kočovský ◽  
Karolina Schwarzová-Pecková
Keyword(s):  
Syndrome Diagnosis ◽  
Opitz Syndrome

scholarly journals 7-Dehydrocholesterol down-regulates cholesterol biosynthesis in cultured Smith-Lemli-Opitz syndrome skin fibroblasts

1998 ◽  
Vol 39 (3) ◽  
pp. 647-657 ◽  
Author(s):  
Megumi Honda ◽  
G.S. Tint ◽  
Akira Honda ◽  
Lien B. Nguyen ◽  
Thomas S. Chen ◽  
...  
Keyword(s):  
Cholesterol Biosynthesis ◽  
Skin Fibroblasts ◽  
Opitz Syndrome
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