Results 101 to 110 of about 4,480 (201)

Altered lipid subfraction profile and impaired antioxidant defense of high-density lipoprotein in Smith-Lemli-Opitz syndrome [PDF]

, 2020
Fülöp, Péter, Harangi, Mariann, Lőrincz, Hajnalka, Oláh, Anna, P. Szabó, Gabriella, Paragh, György, Seres, Ildikó, Somodi, Sándor   +7 more
core   +1 more source

Causes of death and associated conditions (Codac): a utilitarian approach to the classification of perinatal deaths. [PDF]

, 2009
A carefully classified dataset of perinatal mortality will retain the most significant information on the causes of death. Such information is needed for health care policy development, surveillance and international comparisons, clinical services and ...
Bahrin, Safiah, Charles, Adrian, Chauke, Lawrence, Day, Katie, Duke, Charles W, Facchinetti, Fabio, Flenady, Vicki, Fretts, Ruth C, Frøen, J Frederik, Gardener, Glenn, Gilshenan, Kristen, Gordijn, Sanne J, Gordon, Adrienne, Guyon, Grace, Harrison, Catherine, Koshy, Rachel, Pattinson, Robert C, Petersson, Karin, Pinar, Halit, Russell, Laurie, Saastad, Eli, Smith, Gordon CS, Torabi, Rozbeh   +22 more
core   +7 more sources

A talented giant: a tribute to the memory of John M. Opitz

Italian Journal of Pediatrics
Background John M. Opitz, a towering figure in both stature and scientific achievement, left an indelible mark on the fields of genetics, pediatrics, and embryology. Born in 1935 in Hamburg to a Jewish family, Opitz’s early life was marked by adversities.
Lorenzo Pavone, Giovanni Corsello, Martino Ruggieri   +2 more
doaj   +1 more source

Sterol balance in the Smith-Lemli-Opitz syndrome: reduction in whole body cholesterol synthesis and normal bile acid production

Journal of Lipid Research, 2000
The Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation/mental retardation syndrome caused by a deficiency of the enzyme 7-dehydrocholesterol Δ7-reductase.
Robert D. Steiner, Leesa M. Linck, Donna P. Flavell, Don S. Lin, William E. Connor   +4 more
doaj   +1 more source

Probes for protein adduction in cholesterol biosynthesis disorders: Alkynyl lanosterol as a viable sterol precursor

Redox Biology, 2017
The formation of lipid electrophile-protein adducts is associated with many disorders that involve perturbations of cellular redox status. The identities of adducted proteins and the effects of adduction on protein function are mostly unknown and an ...
Keri A. Tallman, Hye-Young H. Kim, Zeljka Korade, Thiago C. Genaro-Mattos, Phillip A. Wages, Wei Liu, Ned A. Porter   +6 more
doaj   +1 more source

Study of rare familial monogenic dyslipidemias [PDF]

, 2016
A dislipidemia é um distúrbio do perfil lipídico, seja por elevação ou diminuição de partículas lipídicas. O objetivo deste trabalho é fazer uma revisão dos casos com dislipidemia rara em estudo no Instituto Nacional de Saúde Doutor Ricardo Jorge ...
Alves, Ana Catarina, Bourbon, Mafalda, Duarte, Sequeira, Gaspar, Ana, Guerra, António, Lobarinhas, Goreti, Mansilha, Helena, Moldovan, Oana, Sequeira, Sílvia   +8 more
core  

7DHC-induced changes of Kv1.3 operation contributes to modified T cell function in Smith-Lemli-Opitz syndrome [PDF]

, 2020
Balajthy, András, Hajdu, Péter, P. Szabó, Gabriella, Panyi, György, Paragh, György, Pethő, Zoltán, Péter, Mária, Somodi, Sándor, Varga, Zoltán, Vígh, László   +9 more
core   +1 more source

Retinal de novo lipogenesis coordinates neurotrophic signaling to maintain vision [PDF]

, 2018
Adak, Sangeeta, Chen, Shiming, Doggett, Teresa, Enright, Jennifer, Hsu, Fong-Fu, Ling, Guoyu, Rajagopal, Rithwick, Semenkovich, Clay F, Shah, Vaishali, Wei, Xiaochao, Yoshino, Jun, Zhang, Sheng   +11 more
core   +2 more sources

The acrocallosal syndrome: A case report and literature survey [PDF]

, 2009
Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey, Gonzales, Cesar, Hodgson, Brian   +2 more
core   +1 more source

Selective reconstitution of liver cholesterol biosynthesis promotes lung maturation but does not prevent neonatal lethality in Dhcr7 null mice [PDF]

, 2007
Hongwei Yu, Man Li, G Stephen Tint, Jianliang Chen, Guorong Xu, Shailendra B Patel   +5 more
core   +1 more source