Works matching DE "HOMOZYGOUS familial hypercholesterolemia"
Results: 95
Favorable outcome of r-FSH treatment in male with homozygous Ser680ASN variant in FSHR gene: a case report demonstrating pharmacogenomic implication in male infertility.
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- Fertility Science & Research, 2021, v. 8, n. 2, p. 185, doi. 10.4103/fsr.fsr_42_21
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- Article
From Fleming to Endo: The discovery of statins.
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- Global Cardiology Science & Practice, 2021, v. 2021, n. 4, p. 1, doi. 10.21542/gcsp.2021.32
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- Article
A machine-learning algorithm using claims data to identify patients with homozygous familial hypercholesterolemia.
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- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-58719-y
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- Article
Lomitapide: navigating cardiovascular challenges with innovative therapies.
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- Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-10003-y
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- Article
Novel and Promising Therapies for Diabetic Dyslipidemia to Mitigate Residual Cardiovascular Risk.
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- Journal of Clinical Medicine, 2024, v. 13, n. 16, p. 4915, doi. 10.3390/jcm13164915
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- Article
Metabolomic Approach to Screening Homozygotes in Chinese Patients with Severe Familial Hypercholesterolemia.
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- Journal of Clinical Medicine, 2023, v. 12, n. 2, p. 483, doi. 10.3390/jcm12020483
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Recent Advances in Gene Therapy for Familial Hypercholesterolemia: An Update Review.
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- Journal of Clinical Medicine, 2022, v. 11, n. 22, p. 6773, doi. 10.3390/jcm11226773
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- Article
Evaluation of Oxidative Stress Status in Familial Hypercholesterolemia.
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- Journal of Clinical Medicine, 2021, v. 10, n. 24, p. 5867, doi. 10.3390/jcm10245867
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A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.
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- Journal of Clinical Medicine, 2020, v. 9, n. 1, p. 219, doi. 10.3390/jcm9010219
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- Article
Management of Familial Hypercholesterolemia with Special Emphasis on Evinacumab.
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- Biomedicines, 2022, v. 10, n. 12, p. 3273, doi. 10.3390/biomedicines10123273
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- Article
Recent Advances on Familial Hypercholesterolemia in Children and Adolescents.
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- Biomedicines, 2022, v. 10, n. 5, p. 1043, doi. 10.3390/biomedicines10051043
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- Article
Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.
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- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 12, p. N.PAG, doi. 10.1002/mgg3.1007
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- Article
Tuberous xanthoma secondary to homozygous familial hypercholesterolaemia: a life‐threatening diagnosis.
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- Clinical & Experimental Dermatology, 2022, v. 47, n. 12, p. 2336, doi. 10.1111/ced.15394
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- Article
Dr. Thomas Earl Starzl (1926–2017): Father of Transplantation.
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- Journal of Medical Biography, 2024, v. 32, n. 2, p. 279, doi. 10.1177/09677720221125453
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- Article
Liver transplantation for homozygous familial hypercholesterolemia: a retrospective analysis from Chinese experience.
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- Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-024-03443-z
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- Article
Long-term effectiveness and safety of lomitapide in patients with homozygous familial hypercholesterolemia: an observational case series.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03374-9
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- Article
Targeting microsomal triglyceride transfer protein and lipoprotein assembly to treat homozygous familial hypercholesterolemia.
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- Critical Reviews in Clinical Laboratory Sciences, 2017, v. 54, n. 1, p. 26, doi. 10.1080/10408363.2016.1221883
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- Article
Homozygous familial hypercholesterolemia with an update on cholesterol management.
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- Oxford Medical Case Reports, 2020, v. 20, n. 9, p. 1, doi. 10.1093/omcr/omaa072
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- Article
Is Liver Transplantation Alone an Effective Treatment for Homozygotic Familial Hypercholesterolemia in Children?
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- Pediatric Transplantation, 2024, v. 28, n. 7, p. 1, doi. 10.1111/petr.14853
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- Article
Homozygous familial hypercholesterolaemia in two boys aged 5 and 10 years.
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- Paediatrics & International Child Health, 2016, v. 36, n. 4, p. 308, doi. 10.1080/20469047.2016.1188497
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- Article
Homozygous familial hypercholesterolaemia: update on management.
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- Paediatrics & International Child Health, 2016, v. 36, n. 4, p. 243, doi. 10.1080/20469047.2016.1246640
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- Article
New insights into the management of homozygous familial hypercholesterolemia patients treated with lomitapide: a single-center experience.
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- Frontiers in Endocrinology, 2025, p. 1, doi. 10.3389/fendo.2024.1515846
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- Article
Inhibiting angiopoietin-like protein 3: clear skies or clouds on the horizon?
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- European Heart Journal, 2024, v. 45, n. 9, p. 722, doi. 10.1093/eurheartj/ehae068
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- Article
2023 Update on European Atherosclerosis Society Consensus Statement on Homozygous Familial Hypercholesterolaemia: new treatments and clinical guidance.
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- European Heart Journal, 2023, v. 44, n. 25, p. 2277, doi. 10.1093/eurheartj/ehad197
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- Article
Aortic stenosis in homozygous familial hypercholesterolaemia: a paradigm shift over a century.
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- European Heart Journal, 2022, v. 43, n. 34, p. 3227, doi. 10.1093/eurheartj/ehac339
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- Article
From supravalvular to valvular aortic stenosis: are statins contributing to the phenotypic shift in homozygous familial hypercholesterolaemia?
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- European Heart Journal, 2022, v. 43, n. 34, p. 3240, doi. 10.1093/eurheartj/ehac338
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- Article
Complementary role of evinacumab in combination with lipoprotein apheresis in patients with homozygous familial hypercholesterolemia.
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- Therapeutic Apheresis & Dialysis, 2022, v. 26, p. 12, doi. 10.1111/1744-9987.13856
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- Article
Pregnancy in homozygous familial hypercholesterolemia—A case series.
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- Therapeutic Apheresis & Dialysis, 2022, v. 26, p. 89, doi. 10.1111/1744-9987.13841
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The scientific basis and future of lipoprotein apheresis.
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- Therapeutic Apheresis & Dialysis, 2022, v. 26, n. 1, p. 32, doi. 10.1111/1744-9987.13716
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- Article
R233H mutation in patients with tyrosine hydroxylase deficiency and corresponding phenotypes: a study of four cases and literature review.
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- Journal of Integrative Neuroscience, 2022, v. 21, n. 1, p. 1, doi. 10.31083/j.jin2101035
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- Article
Palmar Striated Xanthomas in Clinical Practice.
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- Journal of the Endocrine Society, 2022, v. 6, n. 8, p. 1, doi. 10.1210/jendso/bvac103
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Phenotypic homozygous familial hypercholesterolemia successfully treated with proprotein convertase subtilisin/kexin type 9 inhibitors.
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- 2024
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- Case Study
LC--HRMS Analysis of the Antisense Oligonucleotide Mipomersen Using a Bioinert YMC-Triart Column.
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- LC-GC Europe, 2021, v. 34, n. 9, p. 399
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- Article
Alirocumab: Pediatric First Approval.
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- 2024
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- Publication type:
- Editorial
The future of clinical lipidology in the UK.
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- Clinical Medicine, 2024, v. 24, n. 2, p. 1, doi. 10.1016/j.clinme.2024.100026
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- Article
The effect of DALI lipid apheresis in the prognosis of homozygous familial hypercholesterolemia: Seven patients' experience at a DALI apheresis center.
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- Annals of Pediatric Cardiology, 2020, v. 13, n. 2, p. 111, doi. 10.4103/apc.APC_56_19
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Evinacumab: Mechanism of action, clinical, and translational science.
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- CTS: Clinical & Translational Science, 2024, v. 17, n. 6, p. 1, doi. 10.1111/cts.13836
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- Article
Liver Transplantation for HoFH in Children: Single Center Experience.
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- Congenital Heart Disease, 2015, v. 10, n. 6, p. 520, doi. 10.1111/chd.12301
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- Article
Acyclovir-Resistant Cutaneous Herpes Simplex Virus in DOCK8 Deficiency.
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- Cutis, 2021, v. 108, n. 4, p. 218, doi. 10.12788/cutis.0364
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- Article
Intertriginous Xanthomas: Clues to Homozygous Familial Hypercholesterolemia.
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- 2024
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- Publication type:
- Case Study
Outcomes of Pediatric Liver Transplantation in Inherited Metabolic Diseases: A Single-center's Experience.
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- Medical Journal of Bakirkoy, 2022, v. 18, n. 1, p. 94, doi. 10.4274/BMJ.galenos.2022.2022.1-4
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- Article
Familial Hypercholesterolemia: Screening, Diagnosis, and Treatment.
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- 2024
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- Publication type:
- Case Study
Role of LDL apheresis in a case of homozygous familial hypercholesterolemia.
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- Drug Discoveries & Therapeutics, 2019, v. 13, n. 1, p. 59, doi. 10.5582/ddt.2019.01001
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- Article
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
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- Clinical Genetics, 2021, v. 100, n. 5, p. 529, doi. 10.1111/cge.14036
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- Article
Lipoprotein apheresis: an established therapeutic modality for homozygous familial hypercholesterolemia patients refractory to PCSK9 inhibitors: a case report and literature review.
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- Thrombosis Journal, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12959-024-00657-w
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- Article
Homozygous Familial Hypercholesterolaemia with Severe Aortic Stenosis.
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- Journal of the Indian Academy of Clinical Medicine, 2024, v. 25, n. 1/2, p. 78
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- Article
Management of Pregnancy in a Patient with Familial Hypercholesterolemia and Previous Myocardial Infarction—Treatment with LDL Apheresis: A Case Report.
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- 2024
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- Publication type:
- Case Study
Homozygous familial hypercholesterolaemia and its treatment.
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- Cardiology Letters, 2016, v. 25, n. 2, p. 91
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- Article
Population pharmacokinetics and exposure–response modeling for evinacumab in homozygous familial hypercholesterolemia.
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- CPT: Pharmacometrics & Systems Pharmacology, 2021, v. 10, n. 11, p. 1412, doi. 10.1002/psp4.12711
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- Article
Multimodal lipid-lowering treatment in pediatric patients with homozygous familial hypercholesterolemia—target attainment requires further increase of intensity.
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- Pediatric Nephrology, 2018, v. 33, n. 7, p. 1199, doi. 10.1007/s00467-018-3906-6
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- Article