Results 91 to 100 of about 7,344 (147)

A novel gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features [PDF]

core   +1 more source

Trendy w diagnostyce prenatalnej niespecyficznych zespołów wad rozwojowych z uwzględnieniem doświadczeń własnych i badania nad częstością prenatalną zespołu Smitha, Lemlego i Opitza [PDF]

, 1970
Goryluk-Kozakiewicz, Bożenna, Jezela-Stanek, Aleksandra, Krajewska-Walasek, Małgorzata, Kucharczyk, Marzena, Małunowicz, Ewa, Siejka, Anna, Sodowska, Henryka   +6 more
core   +2 more sources

Serum Vitamin A and Vitamin E Levels in Individuals With Smith-Lemli-Opitz Syndrome. [PDF]

Am J Med Genet A
Bowman GR, Rahhal SN, Porter FD.
europepmc   +1 more source

Sterol Endoperoxides and Their Antileishmanial Effects: Influence on Viability, Oxygen Metabolism and Sterol Synthesis. [PDF]

Molecules
Sarkar D, Aleta A, Ahmetašević M, Tosin M, Machin L, Schrödl E, Bacher M, Rosenau T, Monzote L, Staniek K, Chatterjee M, Gille L.   +11 more
europepmc   +1 more source

Diagnostic approach to neonatal and infantile cholestasis: A position paper by the SIGENP liver disease working group [PDF]

, 2022
Alberti, Daniele, Ferrari, Federica, Grimaldi, Chiara, Pinon, Michele, Spada, Marco   +4 more
core   +1 more source

Plasma Biomarker Profiling of 2-Hydroxypropyl-β-Cyclodextrin (HPβCD) Treatment in an Aged Mouse Model of Ischemic Stroke. [PDF]

Int J Mol Sci
Becktel DA, Frye JB, Le EH, Schnellmann RG, Doyle KP.   +4 more
europepmc   +1 more source

Smith-Lemli-Opitz Syndrome (SLOS)-Case Description and the Impact of Therapeutic Interventions on Psychomotor Development. [PDF]

J Clin Med
Kozera N, Śmigiel R, Rozensztrauch A.
europepmc   +1 more source

Method development for the analysis of steroids, steroid acids and sterol sulfates in biological samples [PDF]

, 2021
Junker, Julia
core  

Downmodulation of cholesterol biosynthetic network governs activation of the innate immune response to Japanese encephalitis virus infection. [PDF]

J Virol
Khera S, Sharma KB, Kumar Y, Kalia M.
europepmc   +1 more source

7-Dehydrocholesterol attenuates osteoarthritis by synergistically inhibiting oxidative stress, inflammation, and ferroptosis in macrophages. [PDF]

Front Pharmacol
Zhang W, Hua M, Zhao X, Sun G, Pan Y, Miao L, Chen X, Zhang S.   +7 more
europepmc   +1 more source