Cargando…

Current Diagnosis and Management of Abetalipoproteinemia

Abetalipoproteinemia (ABL) is a rare autosomal recessive disorder caused by biallelic pathogenic mutations in the MTTP gene. Deficiency of microsomal triglyceride transfer protein (MTTP) abrogates the assembly of apolipoprotein (apo) B-containing lipoprotein in the intestine and liver, resulting in...

Descripción completa

Detalles Bibliográficos
Autores principales:	Takahashi, Manabu, Okazaki, Hiroaki, Ohashi, Ken, Ogura, Masatsune, Ishibashi, Shun, Okazaki, Sachiko, Hirayama, Satoshi, Hori, Mika, Matsuki, Kota, Yokoyama, Shinji, Harada-Shiba, Mariko
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Japan Atherosclerosis Society 2021
Materias:	Review
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8560840/ https://www.ncbi.nlm.nih.gov/pubmed/33994405 http://dx.doi.org/10.5551/jat.RV17056

Ejemplares similares

Current Diagnosis and Management of Primary Chylomicronemia
por: Okazaki, Hiroaki, et al.
Publicado: (2021)

Current Diagnosis and Management of Tangier Disease
por: Koseki, Masahiro, et al.
Publicado: (2021)

Homozygous Familial Hypercholesterolemia
por: Nohara, Atsushi, et al.
Publicado: (2021)

Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments
por: Koyama, Shingo, et al.
Publicado: (2021)

Association between Achilles Tendon Softness and Atherosclerotic Cardiovascular Disease in Patients with Familial Hypercholesterolemia
por: Michikura, Masahito, et al.
Publicado: (2022)

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

The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia
por: Hori, Mika, et al.
Publicado: (2020)

Current Status of Familial LCAT Deficiency in Japan
por: Kuroda, Masayuki, et al.
Publicado: (2021)

Familial Hypercholesterolemia and Lipoprotein Apheresis
por: Makino, Hisashi, et al.
Publicado: (2019)

Diagnosis and Management of Sitosterolemia 2021
por: Tada, Hayato, et al.
Publicado: (2021)

Characterization of Polyvascular Disease in Heterozygous Familial Hypercholesterolemia: Its Association With Circulating Lipoprotein(a) Levels
por: Funabashi, Sayaka, et al.
Publicado: (2022)

Abetalipoproteinemia: two case reports and literature review
por: Zamel, Rola, et al.
Publicado: (2008)

Prospective Registry Study of Primary Dyslipidemia (PROLIPID): Rationale and Study Design
por: Tada, Hayato, et al.
Publicado: (2022)

Gradual dose Titration of Lomitapide may Prevent Therapeutic Delays in Patients with Homozygous Familial Hypercholesterolemia
por: Harada-Shiba, Mariko, et al.
Publicado: (2023)

Guidelines for the Diagnosis and Treatment of Adult Familial Hypercholesterolemia 2022
por: Harada-Shiba, Mariko, et al.
Publicado: (2023)

Deep Brain Stimulation for the Treatment of Tremor and Ataxia Associated with Abetalipoproteinemia
por: Mammis, Antonios, et al.
Publicado: (2012)

Factors Associated with Carotid Atherosclerosis and Achilles Tendon Thickness in Japanese Patients with Familial Hypercholesterolemia: A Subanalysis of the Familial Hypercholesterolemia Expert Forum (FAME) Study
por: Ogura, Masatsune, et al.
Publicado: (2022)

Association between Familial Hypercholesterolemia and Serum Levels of Cholesterol Synthesis and Absorption Markers: The CACHE Study FH Analysis
por: Matsuki, Kota, et al.
Publicado: (2023)

Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia
por: Doi, Takahito, et al.
Publicado: (2021)

Circulating Mature PCSK9 Level Predicts Diminished Response to Statin Therapy
por: Kuyama, Naoto, et al.
Publicado: (2021)

A Male Infant with Abetalipoproteinemia: A Case Report from Iran
por: Rashtian, Parisa, et al.
Publicado: (2015)

Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism
por: Acar, Sezer
Publicado: (2020)

Abetalipoproteinemia Due to a Novel Splicing Variant in MTTP in 3 Siblings
por: Vlasschaert, Caitlyn, et al.
Publicado: (2021)

Novel MTTP Gene Mutation in a Case of Abetalipoproteinemia with Central Hypothyroidism
por: Soylu Ustkoyuncu, Pembe, et al.
Publicado: (2020)

A Resuscitated Case of Acute Myocardial Infarction with both Familial Hypercholesterolemia Phenotype Caused by Possibly Oligogenic Variants of the PCSK9 and ABCG5 Genes and Type I CD36 Deficiency
por: Nishikawa, Ryo, et al.
Publicado: (2022)

Substantially Elevated Atherosclerotic Risks in Japanese Severe Familial Hypercholesterolemia Defined by the International Atherosclerosis Society
por: Funabashi, Sayaka, et al.
Publicado: (2021)

Clinical, hematological, and imaging observations in a 25-year-old woman with abetalipoproteinemia
por: Nagappa, Madhu, et al.
Publicado: (2014)

Guidelines for Diagnosis and Treatment of Familial Hypercholesterolemia 2017
por: Harada-Shiba, Mariko, et al.
Publicado: (2018)

Molecular characterization of Tunisian families with abetalipoproteinemia and identification of a novel mutation in MTTP gene
por: Najah, Mohamed, et al.
Publicado: (2013)

Successful Nutritional Intervention for an Infant with Abetalipoproteinemia: A Novel Modular Formula (AbetaMF)
por: Ueda, Masako, et al.
Publicado: (2021)

VLDL/LDL acts as a drug carrier and regulates the transport and metabolism of drugs in the body
por: Yamamoto, Hideaki, et al.
Publicado: (2017)

Guidance for Pediatric Familial Hypercholesterolemia 2017
por: Harada-Shiba, Mariko, et al.
Publicado: (2018)

Acute Cholesterol-Lowering Effect of Exendin-4 inLdlr(−/−) and C57BL/6J Mice
por: Hori, Mika, et al.
Publicado: (2023)

Loss of myeloid lipoprotein lipase exacerbates adipose tissue fibrosis with collagen VI deposition and hyperlipidemia in leptin-deficient obese mice
por: Takahashi, Manabu, et al.
Publicado: (2022)

Statement for Appropriate Clinical Use of PCSK9 Inhibitors
por: Nohara, Atsushi, et al.
Publicado: (2018)

Circulating Furin-Cleaved Proprotein Convertase Subtilisin/Kexin Type 9 Concentration Predicts Future Coronary Events in Japanese Subjects
por: Kataoka, Yu, et al.
Publicado: (2021)

Guidelines for the Diagnosis and Treatment of Pediatric Familial Hypercholesterolemia 2022
por: Harada-Shiba, Mariko, et al.
Publicado: (2023)

Multimodality assessment of left ventricular dysfunction in Takayasu arteritis and familial hypercholesterolaemia
por: Okada, Atsushi, et al.
Publicado: (2017)

Serum FABP5 concentration is a potential biomarker for residual risk of atherosclerosis in relation to cholesterol efflux from macrophages
por: Furuhashi, Masato, et al.
Publicado: (2017)

A unique bailout strategy for coronary artery dissection accompanying longitudinal hematoma
por: Ishibashi, Shun, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_uvetkb3enfn6c7fo9eqvpr8jjq