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The distribution and characteristics of LDL receptor mutations in China: A systematic review
Jiang, Long, Sun, Li-Yuan, Dai, Yan-Fang, Yang, Shi-Wei, Zhang, Feng, Wang, Lu-Ya
Published in Scientific reports (26.11.2015)
Published in Scientific reports (26.11.2015)
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Journal Article
The removal from plasma of chylomicrons and remnants is reduced in heterozygous familial hypercholesterolemia subjects with identified LDL receptor mutations: Study with artificial emulsions
Carneiro, Marcia M., Miname, Marcio H., Gagliardi, Ana C., Pereira, Carolina, Pereira, Alexandre C., Krieger, Jose E., Maranhão, Raul C., Santos, Raul D.
Published in Atherosclerosis (01.03.2012)
Published in Atherosclerosis (01.03.2012)
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Journal Article
Clinical characteristics and evaluation of LDL-cholesterol treatment of the Spanish Familial Hypercholesterolemia Longitudinal Cohort Study (SAFEHEART)
Mata, Nelva, Alonso, Rodrigo, Badimón, Lina, Padró, Teresa, Fuentes, Francisco, Muñiz, Ovidio, Perez-Jiménez, Francisco, López-Miranda, José, Díaz, Jose L, Vidal, Jose I, Barba, A, Piedecausa, Mar, Sanchez, Juan F, Irigoyen, Luis, Guallar, Eliseo, Ordovas, José M, Mata, Pedro
Published in Lipids in health and disease (10.06.2011)
Published in Lipids in health and disease (10.06.2011)
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Journal Article
Cardiovascular disease in familial hypercholesterolaemia: Influence of low-density lipoprotein receptor mutation type and classic risk factors
Alonso, R., Mata, N., Castillo, S., Fuentes, F., Saenz, P., Muñiz, O., Galiana, J., Figueras, R., Diaz, J.L., Gomez-Enterría, P., Mauri, M., Piedecausa, M., Irigoyen, L., Aguado, R., Mata, P.
Published in Atherosclerosis (01.10.2008)
Published in Atherosclerosis (01.10.2008)
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Journal Article
Homozygous familial hypercholesterolemia in childhood: Genotype-phenotype description, established therapies and perspectives
Sanna, Claudia, Stéphenne, Xavier, Revencu, Nicole, Smets, Françoise, Sassolas, Agnes, Di Filippo, Mathilde, Descamps, Olivier S., Sokal, Etienne M.
Published in Atherosclerosis (01.04.2016)
Published in Atherosclerosis (01.04.2016)
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Journal Article
Evaluation of glycemic status and subclinical atherosclerosis in familial hypercholesterolemia subjects with or without LDL receptor mutation
Di Giacomo Barbagallo, Francesco, Bosco, Giosiana, Di Marco, Maurizio, Scilletta, Sabrina, Miano, Nicoletta, Musmeci, Marco, Martedì, Marina, González-Lleó, Ana M., Ibarretxe, Daiana, De Francesco, Ernestina Marianna, Malaguarnera, Roberta, Di Pino, Antonino, Masana, Luís, Purrello, Francesco, Piro, Salvatore, Scicali, Roberto
Published in Cardiovascular diabetology (20.03.2025)
Published in Cardiovascular diabetology (20.03.2025)
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Journal Article
An Untargeted Lipidomic Analysis Reveals Depletion of Several Phospholipid Classes in Patients with Familial Hypercholesterolemia on Treatment with Evolocumab
Anesi, Andrea, Di Minno, Alessandro, Calcaterra, Ilenia, Cavalca, Viviana, Tripaldella, Maria, Porro, Benedetta, Di Minno, Matteo Nicola Dario
Published in Biomedicines (17.12.2021)
Published in Biomedicines (17.12.2021)
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Journal Article
Triglyceride-Rich HDL₃ from Patients with Familial Hypercholesterolemia Are Less Able to Inhibit Cytokine Release or to Promote Cholesterol Efflux
Ottestad, Inger O, Halvorsen, Bente, Balstad, Trude R, Otterdal, Kari, Borge, Grethe I, Brosstad, Frank, Myhre, Anne M, Ose, Leiv, Nenseter, Marit S, Holven, Kirsten B
Published in The Journal of nutrition (01.04.2006)
Published in The Journal of nutrition (01.04.2006)
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Journal Article
The discrete and combined effect of SREBP-2 and SCAP isoforms in the control of plasma lipids among familial hypercholesterolaemia patients
Durst, R., Jansen, A., Erez, G., Bravdo, R., Butbul, E., Ben Avi, L., Shpitzen, S., Lotan, C., Leitersdorf, E., Defesche, J., Friedlander, Y., Meiner, V., Miserez, A.R.
Published in Atherosclerosis (01.12.2006)
Published in Atherosclerosis (01.12.2006)
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Journal Article
An individual with a healthy phenotype in spite of a pathogenic LDL receptor mutation (C240F)
Ekström, Ulf, Abrahamson, Magnus, Florén, Claes-Henrik, Tollig, Henrik, Wettrell, Göran, Nilsson, Gerd, Sun, Xi-Ming, Soutar, Anne K, Nilsson-Ehle, Peter
Published in Clinical genetics (01.05.1999)
Published in Clinical genetics (01.05.1999)
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Journal Article
Molecular basis of familial hypercholesterolemia: An Indian experience
Ashavaid, T. F., Altaf, A. K., Nair, K. G.
Published in Indian journal of clinical biochemistry (01.08.2000)
Published in Indian journal of clinical biochemistry (01.08.2000)
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Journal Article