Works matching DE "HOMOZYGOUS familial hypercholesterolemia"

Results: 99

Lomitapide: navigating cardiovascular challenges with innovative therapies.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-10003-y

By:

Munkhsaikhan, Undral;
Ait-Aissa, Karima;
Sahyoun, Amal M.;
Apu, Ehsanul Hoque;
Abidi, Ammaar H.;
Kassan, Adam;
Kassan, Modar

Publication type:

Article

PNPLA3/adiponutrin I148M gene variant in nonalcoholic fatty liver disease in Egyptian children and adolescents.

Published in:

Alexandria Journal of Pediatrics, 2021, v. 34, n. 3, p. 203, doi. 10.4103/1687-9945.337830

By:

Ata, Dina S.;
Awad, Mohy A. E.;
Eid, Manal A. E.;
ElShafey, Khaled I.;
Taha, Ola A.

Publication type:

Article

Study of Xmn-I polymorphism in β-thalassemic children in Egypt.

Published in:

Alexandria Journal of Pediatrics, 2021, v. 34, n. 3, p. 193, doi. 10.4103/ajop.ajop_35_21

By:

Sedky, Amina;
Assem, Hala;
Bedewy, Ahmed;
Adel, Nashwa;
Yousef, Maha

Publication type:

Article

Palmar Striated Xanthomas in Clinical Practice.

Published in:

Journal of the Endocrine Society, 2022, v. 6, n. 8, p. 1, doi. 10.1210/jendso/bvac103

By:

Roy, Nathalie;
Gaudet, Daniel;
Brisson, Diane

Publication type:

Article

A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.

Published in:

Journal of Clinical Medicine, 2020, v. 9, n. 1, p. 219, doi. 10.3390/jcm9010219

By:

Di Taranto, Maria Donata;
Giacobbe, Carola;
Buonaiuto, Alessio;
Calcaterra, Ilenia;
Palma, Daniela;
Maione, Giovanna;
Iannuzzo, Gabriella;
Di Minno, Matteo Nicola Dario;
Rubba, Paolo;
Fortunato, Giuliana

Publication type:

Article

Lomitapide modifies high-density lipoprotein function in homozygous familial hypercholesterolaemia.

Published in:

European Journal of Medical Research, 2025, v. 30, n. 1, p. 1, doi. 10.1186/s40001-025-02439-0

By:

Hafiane, Anouar;
Ronca, Annalisa;
Incerti, Matteo;
Rossi, Alessandra;
Manfredini, Matteo;
Favari, Elda

Publication type:

Article

The Role of Lipid Metabolism in Dyslipidemias and Atherosclerosis.

Published in:

Metabolites (2218-1989), 2024, v. 14, n. 11, p. 596, doi. 10.3390/metabo14110596

By:

Janić, Miodrag;
Yamashita, Shizuya;
Su, Ta-Chen;
Rizzo, Manfredi

Publication type:

Article

Tuberous xanthoma secondary to homozygous familial hypercholesterolaemia: a life‐threatening diagnosis.

Published in:

Clinical & Experimental Dermatology, 2022, v. 47, n. 12, p. 2336, doi. 10.1111/ced.15394

By:

Kazmi, Ahmed;
Frewen, John;
McDonald, Bryan;
Davison, James;
O'Toole, Edel

Publication type:

Article

Familial Hypercholesterolemia: Screening, Diagnosis, and Treatment.

Published in:

2024

By:

Reamy, Brian V.

Publication type:

Case Study

The effect of DALI lipid apheresis in the prognosis of homozygous familial hypercholesterolemia: Seven patients' experience at a DALI apheresis center.

Published in:

Annals of Pediatric Cardiology, 2020, v. 13, n. 2, p. 111, doi. 10.4103/apc.APC_56_19

By:

Bulut, Muhammet;
Nisli, Kemal;
Dindar, Aygün

Publication type:

Article

Acyclovir-Resistant Cutaneous Herpes Simplex Virus in DOCK8 Deficiency.

Published in:

Cutis, 2021, v. 108, n. 4, p. 218, doi. 10.12788/cutis.0364

By:

Hopkins, Christina R.;
Lowe, Nicholas;
Lee, Grace

Publication type:

Article

Metabolic systems approaches update molecular insights of clinical phenotypes and cardiovascular risk in patients with homozygous familial hypercholesterolemia.

Published in:

BMC Medicine, 2023, v. 21, n. 1, p. 1, doi. 10.1186/s12916-023-02967-8

By:

Du, Zhiyong;
Li, Fan;
Jiang, Long;
Li, Linyi;
Du, Yunhui;
Yu, Huahui;
Luo, Yan;
Wang, Yu;
Sun, Haili;
Hu, Chaowei;
Li, Jianping;
Yang, Ya;
Jiao, Xiaolu;
Wang, Luya;
Qin, Yanwen

Publication type:

Article

Targeting microsomal triglyceride transfer protein and lipoprotein assembly to treat homozygous familial hypercholesterolemia.

Published in:

Critical Reviews in Clinical Laboratory Sciences, 2017, v. 54, n. 1, p. 26, doi. 10.1080/10408363.2016.1221883

By:

Walsh, Meghan T.;
Hussain, M. Mahmood

Publication type:

Article

Phenotypic homozygous familial hypercholesterolemia successfully treated with proprotein convertase subtilisin/kexin type 9 inhibitors.

Published in:

2024

By:

Tani, Ryosuke;
Matsunaga, Keiji;
Toda, Yuta;
Inoue, Tomoko;
Fu, Hai Ying;
Minamino, Tetsuo

Publication type:

Case Study

Homozygous familial hypercholesterolemia with stenosis of the left anterior descending coronary artery successfully treated with weekly low‐density lipoprotein apheresis for 16 years without percutaneous coronary intervention.

Published in:

Clinical Case Reports, 2019, v. 7, n. 8, p. 1608, doi. 10.1002/ccr3.2299

By:

Yasu, Takanori;
Shimoyama, Masahiro;
Wada, Hiroshi;
Iwakura, Tomohiro;
Toyoda, Shigeru;
Kawabe, Atsuhiko;
Sugiyama, Takushi

Publication type:

Article

Homozygous familial hypercholesterolemia with an update on cholesterol management.

Published in:

Oxford Medical Case Reports, 2020, v. 20, n. 9, p. 1, doi. 10.1093/omcr/omaa072

By:

Velvet, Anju J J;
Soran, Handrean;
Clarke, Bernard;
Motwani, Manish;
Ordoubadi, Farzin F;
Daniels, Matthew J

Publication type:

Article

Homozygous familial hypercholesterolaemia and its treatment.

Published in:

Cardiology Letters, 2016, v. 25, n. 2, p. 91

By:

P, Šimurka;
M, Matejka;
J, Malinová

Publication type:

Article

Population pharmacokinetics and exposure–response modeling for evinacumab in homozygous familial hypercholesterolemia.

Published in:

CPT: Pharmacometrics & Systems Pharmacology, 2021, v. 10, n. 11, p. 1412, doi. 10.1002/psp4.12711

By:

Pu, Xia;
Sale, Mark;
Yang, Feng;
Zhang, Yi;
Davis, John D.;
Al‐Huniti, Nidal

Publication type:

Article

Is Liver Transplantation Alone an Effective Treatment for Homozygotic Familial Hypercholesterolemia in Children?

Published in:

Pediatric Transplantation, 2024, v. 28, n. 7, p. 1, doi. 10.1111/petr.14853

By:

Yılmaz Dağlı, Hatice;
Artan, Reha;
Civan, Dudu Duygu;
İnan Aydemir, Nurel;
Yılmaz, Aygen

Publication type:

Article

Homozygous familial hypercholesterolaemia: update on management.

Published in:

Paediatrics & International Child Health, 2016, v. 36, n. 4, p. 243, doi. 10.1080/20469047.2016.1246640

By:

France, Michael

Publication type:

Article

Homozygous familial hypercholesterolaemia in two boys aged 5 and 10 years.

Published in:

Paediatrics & International Child Health, 2016, v. 36, n. 4, p. 308, doi. 10.1080/20469047.2016.1188497

By:

Deswal, Shivani;
Kapoor, Akshay;
Sibal, Anupam;
Kohli, Vikas

Publication type:

Article

Difficult Journey to Find the Best Treatment for Homozygous Familial Hypercholesterolemia: Case Report.

Published in:

2022

By:

Xu, Ming-Jun;
Chu, Jian-Ping;
Fei, Wen-Ling;
Wang, Juan;
Zhang, Yan-Min;
Wang, Yi

Publication type:

Case Study

Does Genotype Affect the Efficacy of PCSK9 Inhibitors in the Treatment of Familial Hypercholesterolemia?

Published in:

Cardiovascular Drugs & Therapy, 2025, v. 39, n. 2, p. 405, doi. 10.1007/s10557-023-07505-5

By:

Tandirerung, Fistra Janrio

Publication type:

Article

From Fleming to Endo: The discovery of statins.

Published in:

Global Cardiology Science & Practice, 2021, v. 2021, n. 4, p. 1, doi. 10.21542/gcsp.2021.32

By:

Chester, Adrian

Publication type:

Article

GalNAc-Lipid nanoparticles enable non-LDLR dependent hepatic delivery of a CRISPR base editing therapy.

Published in:

Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-37465-1

By:

Kasiewicz, Lisa N.;
Biswas, Souvik;
Beach, Aaron;
Ren, Huilan;
Dutta, Chaitali;
Mazzola, Anne Marie;
Rohde, Ellen;
Chadwick, Alexandra;
Cheng, Christopher;
Garcia, Sara P.;
Iyer, Sowmya;
Matsumoto, Yuri;
Khera, Amit V.;
Musunuru, Kiran;
Kathiresan, Sekar;
Malyala, Padma;
Rajeev, Kallanthottathil G.;
Bellinger, Andrew M.

Publication type:

Article

Outcomes of Pediatric Liver Transplantation in Inherited Metabolic Diseases: A Single-center's Experience.

Published in:

Medical Journal of Bakirkoy, 2022, v. 18, n. 1, p. 94, doi. 10.4274/BMJ.galenos.2022.2022.1-4

By:

Ersoy, Melike;
Ertekin, Vildan;
Şık, Güntülü;
Çıtak, Agop;
Keçeoğlu, Selim;
Emiroğlu, Remzi

Publication type:

Article

Clinical Evaluation Of Evolocumab For The Treatment Of Homozygous Familial Hypercholesterolemia In Chinese Patients.

Published in:

2019

By:

Huang, Chin-Chou;
Charng, Min-Ji

Publication type:

journal article

Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report.

Published in:

2025

By:

Rahman, Anjuman Ara;
Datta, Abhijit;
Ahmed, Kamal Uddin;
Das Barshan, Anindita;
Hasan, Mohammad Jahid

Publication type:

Case Study

Dr. Thomas Earl Starzl (1926–2017): Father of Transplantation.

Published in:

Journal of Medical Biography, 2024, v. 32, n. 2, p. 279, doi. 10.1177/09677720221125453

By:

Hall, Ashton D.;
Kumar, Julia E.

Publication type:

Article

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Published in:

Clinical Genetics, 2021, v. 100, n. 5, p. 529, doi. 10.1111/cge.14036

By:

Di Taranto, Maria Donata;
Giacobbe, Carola;
Palma, Daniela;
Iannuzzo, Gabriella;
Gentile, Marco;
Calcaterra, Ilenia;
Guardamagna, Ornella;
Auricchio, Renata;
Di Minno, Matteo Nicola Dario;
Fortunato, Giuliana

Publication type:

Article

Evaluation of miRNA-27a/b expression in patients with familial hypercholesterolemia.

Published in:

Archives of Medical Science, 2024, v. 20, n. 4, p. 1314, doi. 10.5114/aoms/150500

By:

Keshavarz, Reihaneh;
Aghaee-Bakhtiari, Seyed Hamid;
Pakzad, Parviz;
Banach, Maciej;
Sahebkar, Amirhossein

Publication type:

Article

Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey.

Published in:

2021

By:

D'Erasmo, Laura;
Gallo, Antonio;
Cefalù, Angelo Baldassare;
Di Costanzo, Alessia;
Saheb, Samir;
Giammanco, Antonina;
Averna, Maurizio;
Buonaiuto, Alessio;
Iannuzzo, Gabriella;
Fortunato, Giuliana;
Puja, Arturo;
Montalcini, Tiziana;
Pavanello, Chiara;
Calabresi, Laura;
Vigna, Giovanni Battista;
Bucci, Marco;
Bonomo, Katia;
Nota, Fabio;
Sampietro, Tiziana;
Sbrana, Francesco

Publication type:

journal article

The effect of visfatin rs2110385 gene polymorphism over oral antidiabetic drug response.

Published in:

Annals of Medical of Research, 2021, v. 28, n. 12, p. 2134, doi. 10.5455/annalsmedres.2021.02.129

By:

Susleyici, Belgin;
Gunduz, Meliha Koldemir;
Kayhan, Figen Esin;
Cagatay, Penbe;
Taskin, Mustafa

Publication type:

Article

A Comprehensive Review of PCSK9 Inhibitors.

Published in:

Journal of Cardiovascular Pharmacology & Therapeutics, 2022, v. 27, p. 1, doi. 10.1177/10742484221100107

By:

Coppinger, Caroline;
Movahed, Mohammad Reza;
Azemawah, Veronica;
Peyton, Lee;
Gregory, James;
Hashemzadeh, Mehrnoosh

Publication type:

Article

Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.937750

By:

D’Erasmo, Laura;
Giammanco, Antonina;
Suppressa, Patrizia;
Pavanello, Chiara;
Iannuzzo, Gabriella;
Di Costanzo, Alessia;
Tramontano, Daniele;
Minicocci, Ilenia;
Bini, Simone;
Vogt, Anja;
Stewards, Kim;
Van Lennep, Jeanine Roeters;
Bertolini, Stefano;
Arca, Marcello

Publication type:

Article

Efficacy of Long-Term Treatment of Autosomal Recessive Hypercholesterolemia With Lomitapide: A Subanalysis of the Pan-European Lomitapide Study.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.937750

By:

D'Erasmo, Laura;
Giammanco, Antonina;
Suppressa, Patrizia;
Pavanello, Chiara;
Iannuzzo, Gabriella;
Di Costanzo, Alessia;
Tramontano, Daniele;
Minicocci, Ilenia;
Bini, Simone;
Vogt, Anja;
Stewards, Kim;
Van Lennep, Jeanine Roeters;
Bertolini, Stefano;
Arca, Marcello

Publication type:

Article

The Progression of Treatment for Refractory Hypercholesterolemia: Focus on the Prospect of Gene Therapy.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.911429

By:

Li, Zhi-Fan;
Wu, Na-Qiong

Publication type:

Article

Role of LDL apheresis in a case of homozygous familial hypercholesterolemia.

Published in:

Drug Discoveries & Therapeutics, 2019, v. 13, n. 1, p. 59, doi. 10.5582/ddt.2019.01001

By:

Naveen, Talakola;
Biswas, Ashutosh;
Wig, Naveet;
Soneja, Manish;
Jorwal, Pankaj;
Durga, Chitikela Sindhura;
Singla, Paras;
Chaudhary, Charusmita;
Baitha, Upendra

Publication type:

Article

2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance.

Published in:

European Heart Journal, 2023, v. 44, n. 25, p. 2277, doi. 10.1093/eurheartj/ehad197

By:

Cuchel, Marina;
Raal, Frederick J;
Hegele, Robert A;
Al-Rasadi, Khalid;
Arca, Marcello;
Averna, Maurizio;
Bruckert, Eric;
Freiberger, Tomas;
Gaudet, Daniel;
Harada-Shiba, Mariko;
Hudgins, Lisa C;
Kayikcioglu, Meral;
Masana, Luis;
Parhofer, Klaus G;
Lennep, Jeanine E Roeters van;
Santos, Raul D;
Stroes, Erik S G;
Watts, Gerald F;
Wiegman, Albert;
Stock, Jane K

Publication type:

Article

Aortic stenosis in homozygous familial hypercholesterolaemia: a paradigm shift over a century.

Published in:

European Heart Journal, 2022, v. 43, n. 34, p. 3227, doi. 10.1093/eurheartj/ehac339

By:

Bélanger, Alexandre M;
Akioyamen, Leo E;
Ruel, Isabelle;
Hales, Lindsay;
Genest, Jacques

Publication type:

Article

From supravalvular to valvular aortic stenosis: are statins contributing to the phenotypic shift in homozygous familial hypercholesterolaemia?

Published in:

European Heart Journal, 2022, v. 43, n. 34, p. 3240, doi. 10.1093/eurheartj/ehac338

By:

Bajaj, Archna;
Cuchel, Marina

Publication type:

Article

Complementary role of evinacumab in combination with lipoprotein apheresis in patients with homozygous familial hypercholesterolemia.

Published in:

Therapeutic Apheresis & Dialysis, 2022, v. 26, p. 12, doi. 10.1111/1744-9987.13856

By:

Duell, Paul Barton;
Warden, Bruce A.

Publication type:

Article

Pregnancy in homozygous familial hypercholesterolemia—A case series.

Published in:

Therapeutic Apheresis & Dialysis, 2022, v. 26, p. 89, doi. 10.1111/1744-9987.13841

By:

Bláha, Milan;
Veletová, Kateřina;
Blaha, Vladimír;
Lánská, Miriam;
Žák, Pavel

Publication type:

Article

The scientific basis and future of lipoprotein apheresis.

Published in:: Therapeutic Apheresis & Dialysis, 2022, v. 26, n. 1, p. 32, doi. 10.1111/1744-9987.13716
Publication type:: Article

Treatment of Homozygous Familial Hypercholesterolemia With ANGPTL3 Inhibitor, Evinacumab.

Published in:

JCEM Case Reports, 2023, v. 1, n. 3, p. 1, doi. 10.1210/jcemcr/luad058

By:

Shamsudeen, Isabel;
McCrindle, Brian W;
Hegele, Robert A

Publication type:

Article

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1007

By:

Wong, Karen H.Y.;
Levy‐Sakin, Michal;
Ma, Walfred;
Gonzaludo, Nina;
Mak, Angel C.Y.;
Vaka, Dedeepya;
Poon, Annie;
Chu, Catherine;
Lao, Richard;
Balamir, Melek;
Grenville, Zoe;
Wong, Nicolas;
Kane, John P.;
Kwok, Pui‐Yan;
Malloy, Mary J.;
Pullinger, Clive R.

Publication type:

Article

Management and clinical outcomes of patients with homozygous familial hypercholesteremia in Saudi Arabia.

Published in:

Monaldi Archives for Chest Disease, 2023, v. 93, n. 4, p. 101, doi. 10.4081/monaldi.2023.2503

By:

Kholaif, Naji;
Mohamed, Tahir I.;
Alharbi, Ibrahim S.;
Aljenedil, Sumayah A.;
AlHumaidan, Hind;
Al-Ashwal, Abdullah;
Almahfouz, Abdulraof;
Algorashi, Shahd;
Almasood, Ali;
Baqal, Omar J.

Publication type:

Article

Homozygous Familial Hypercholesterolaemia with Severe Aortic Stenosis.

Published in:

Journal of the Indian Academy of Clinical Medicine, 2024, v. 25, n. 1/2, p. 78

By:

Kumar, Prabhat

Publication type:

Article

Vascular access for lipid apheresis: a challenge in young children with homozygous familial hypercholesterolemia.

Published in:

2022

By:

Lischka, Julia;
Arbeiter, Klaus;
de Gier, Charlotte;
Willfort-Ehringer, Andrea;
Walleczek, Nina-Katharina;
Gellai, Renata;
Boehm, Michael;
Wiegman, Albert;
Greber-Platzer, Susanne

Publication type:

journal article

Management of Pregnancy in a Patient with Familial Hypercholesterolemia and Previous Myocardial Infarction—Treatment with LDL Apheresis: A Case Report.

Published in:

2024

By:

Milincic, Milos;
Todorovic, Jovana;
Dugalic, Stefan;
Novakovic, Ivana;
Macura, Maja;
Lalic, Katarina;
Gojnic Dugalic, Miroslava

Publication type:

Case Study