Cargando…

A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene

We present the first case of a Japanese patient with familial hypobetalipoproteinemia (FHBL) caused by a protein-truncating variant in the proprotein convertase subtilisin/kexin type 9 (PCSK9) gene. A 34-year-old woman was referred to our hospital due to her low low-density lipoprotein (LDL)-cholest...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tada, Hayato, Okada, Hirofumi, Nomura, Akihiro, Nohara, Atsushi, Takamura, Masayuki, Kawashiri, Masa-aki
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society of Internal Medicine 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7118388/ https://www.ncbi.nlm.nih.gov/pubmed/32173689 http://dx.doi.org/10.2169/internalmedicine.3737-19

Ejemplares similares

Case report: Unusual coexistence between familial hypercholesterolemia and familial hypobetalipoproteinemia
por: Sasaki, Kei, et al.
Publicado: (2022)

A reassessment of the Japanese clinical diagnostic criteria of familial hypercholesterolemia in a hospital-based cohort using comprehensive genetic analysis
por: Tada, Hayato, et al.
Publicado: (2020)

Whole Exome Sequencing Insufficient for a Definitive Diagnosis of a Patient with Compound Heterozygous Familial Hypercholesterolemia
por: Okada, Hirofumi, et al.
Publicado: (2022)

Impact of Healthy Lifestyle in Patients With Familial Hypercholesterolemia
por: Tada, Hayato, et al.
Publicado: (2023)

Impact of the severe familial hypercholesterolemia status on atherosclerotic risks
por: Tada, Hayato, et al.
Publicado: (2023)

Oral Fat Tolerance Test for Sitosterolemia and Familial Hypercholesterolemia: A Study Protocol
por: Nomura, Akihiro, et al.
Publicado: (2018)

Impact of genetic testing on low-density lipoprotein cholesterol in patients with familial hypercholesterolemia (GenTLe-FH): a randomised waiting list controlled open-label study protocol
por: Nomura, Akihiro, et al.
Publicado: (2018)

Early diagnosis and treatments in childhood are associated with better prognosis in patients with familial hypercholesterolemia
por: Tada, Hayato, et al.
Publicado: (2022)

Beneficial effect of ezetimibe-atorvastatin combination therapy in patients with a mutation in ABCG5 or ABCG8 gene
por: Tada, Hayato, et al.
Publicado: (2020)

Children with Severe Hypercholesterolemia Caused by a Pathogenic Mutation in ABCG5
por: Tada, Hayato, et al.
Publicado: (2022)

Individualized Treatment for Patients With Familial Hypercholesterolemia
por: Tada, Hayato, et al.
Publicado: (2022)

Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia
por: Tada, Hayato, et al.
Publicado: (2022)

Synergistic effect of lipoprotein (a) and C-reactive protein on prognosis of familial hypercholesterolemia
por: Tada, Hayato, et al.
Publicado: (2022)

Familial Hypercholesterolemia: A Narrative Review on Diagnosis and Management Strategies for Children and Adolescents
por: Tada, Hayato, et al.
Publicado: (2021)

Coronary artery calcium among patients with heterozygous familial hypercholesterolaemia
por: Tada, Hayato, et al.
Publicado: (2023)

Prevalence, self-awareness, and LDL cholesterol levels among patients highly suspected as familial hypercholesterolemia in a Japanese community
por: Tada, Hayato, et al.
Publicado: (2020)

Targeted Panel Sequencing will Boost Detection of Genetic Backgrounds of Familial Hypercholesterolemia in the World's Most Populous Country
por: Tada, Hayato, et al.
Publicado: (2020)

Prevalence and Impact of Apolipoprotein E7 on LDL Cholesterol Among Patients With Familial Hypercholesterolemia
por: Tada, Hayato, et al.
Publicado: (2021)

Lipoprotein metabolism in familial hypercholesterolemia: Serial assessment using a one-step ultracentrifugation method
por: Tada, Hayato, et al.
Publicado: (2015)

Clinical Impact of Carotid Plaque Score rather than Carotid Intima-Media Thickness on Recurrence of Atherosclerotic Cardiovascular Disease Events
por: Tada, Hayato, et al.
Publicado: (2020)

The Assessment of Carotid Atherosclerotic Plaque among Young Patients with Familial Hypercholesterolemia
por: Shibayama, Junichi, et al.
Publicado: (2022)

Effects of artificial intelligence-SsupporTed Automated NutRiTional Intervention on LDL cholesterol Control in Patients with Familial Hypercholesterolaemia (iSTART-FH): protocol for a randomised controlled trial
por: Tada, Hayato, et al.
Publicado: (2021)

Aortic Root Calcification Score as an Independent Factor for Predicting Major Adverse Cardiac Events in Familial Hypercholesterolemia
por: Okada, Hirofumi, et al.
Publicado: (2018)

Serum Triglycerides and Atherosclerotic Cardiovascular Disease: Insights from Clinical and Genetic Studies
por: Tada, Hayato, et al.
Publicado: (2018)

Post-prandial Remnant Lipoprotein Metabolism in Sitosterolemia
por: Tada, Hayato, et al.
Publicado: (2018)

Lipoprotein(a) as an Old and New Causal Risk Factor of Atherosclerotic Cardiovascular Disease
por: Tada, Hayato, et al.
Publicado: (2019)

Triglycerides on the Rise!
por: Tada, Hayato, et al.
Publicado: (2021)

The Effect of Diet on Cardiovascular Disease, Heart Disease, and Blood Vessels
por: Tada, Hayato, et al.
Publicado: (2022)

Changes in lipoprotein lipase and endothelial lipase mass in familial hypercholesterolemia during three-drug lipid-lowering combination therapy
por: Tada, Hayato, et al.
Publicado: (2016)

Familial Hypobetalipoproteinemia-Induced Nonalcoholic Steatohepatitis
por: Lam, Mindy C.W., et al.
Publicado: (2012)

Achilles Tendon Thickness Assessed by X-ray Predicting a Pathogenic Mutation in Familial Hypercholesterolemia Gene
por: Tada, Hayato, et al.
Publicado: (2022)

Sitosterolemia, Hypercholesterolemia, and Coronary Artery Disease
por: Tada, Hayato, et al.
Publicado: (2018)

Low-Density Lipoprotein Cholesterol Level cannot be too Low: Considerations from Clinical Trials, Human Genetics, and Biology
por: Tada, Hayato, et al.
Publicado: (2020)

Challenges of Precision Medicine for Atherosclerotic Cardiovascular Disease Based on Human Genome Information
por: Tada, Hayato, et al.
Publicado: (2021)

Can PCSK7 be A New Pharmaceutical Target?
por: Kawashiri, Masa-aki
Publicado: (2022)

Quick sepsis‐related organ failure assessment score as a possible predictor for in‐hospital adverse events in infective endocarditis
por: Tamura, Yudai, et al.
Publicado: (2019)

The First Report of Purulent Pericarditis Associated with Aortic Stent-graft Infection Caused by Methicillin-susceptible Staphylococcus aureus
por: Yamagami, Kan, et al.
Publicado: (2019)

Eggplant-Like Coronary Aneurysm With Massive Thrombus
por: Yamagami, Kan, et al.
Publicado: (2022)

Additive Prognostic Value of Carotid Plaque Score to Enhance the Age, Creatinine, and Ejection Fraction Score in Patients with Acute Coronary Syndrome
por: Nakahashi, Takuya, et al.
Publicado: (2018)

Case Report: Myocarditis Associated With COVID-19 mRNA Vaccination Following Myocarditis Associated With Campylobacter Jejuni
por: Kojima, Nobuko, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_fnsr9ovig2pr8k0lghnka4on6i