Cargando…

Severe hypertriglyceridemia in a patient heterozygous for a lipoprotein lipase gene allele with two novel missense variants

Rare monogenic hyperchylomicronemia is caused by loss-of-function mutations in genes involved in the catabolism of triglyceride-rich lipoproteins, including the lipoprotein lipase gene, LPL. Clinical hallmarks of this condition are eruptive xanthomas, recurrent pancreatitis and abdominal pain. Patie...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kassner, Ursula, Salewsky, Bastian, Wühle-Demuth, Marion, Szijarto, Istvan Andras, Grenkowitz, Thomas, Binner, Priska, März, Winfried, Steinhagen-Thiessen, Elisabeth, Demuth, Ilja
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group 2015
Materias:	Short Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4538214/ https://www.ncbi.nlm.nih.gov/pubmed/25585702 http://dx.doi.org/10.1038/ejhg.2014.295

Ejemplares similares

Evaluation of the role of STAP1 in Familial Hypercholesterolemia
por: Danyel, Magdalena, et al.
Publicado: (2019)

Clinical outcome of a patient with lysosomal acid lipase deficiency and first results after initiation of treatment with Sebelipase alfa: A case report
por: Soll, Dominik, et al.
Publicado: (2019)

Sports and Exercise at Different Ages and Leukocyte Telomere Length in Later Life – Data from the Berlin Aging Study II (BASE-II)
por: Saßenroth, Denise, et al.
Publicado: (2015)

Higher Lipoprotein (a) Levels Are Associated with Better Pulmonary Function in Community-Dwelling Older People – Data from the Berlin Aging Study II
por: Buchmann, Nikolaus, et al.
Publicado: (2015)

PCSK9 Inhibitors in a German Single-Center Clinical Practice: Real-World Treatment of Patients at High Cardiovascular Risk Over 68 Weeks
por: Hollstein, Tim, et al.
Publicado: (2020)

Plasma carotenoids, tocopherols and retinol - Association with age in the Berlin Aging Study II
por: Weber, Daniela, et al.
Publicado: (2020)

Exploring the Relationship of Relative Telomere Length and the Epigenetic Clock in the LipidCardio Cohort
por: Banszerus, Verena L., et al.
Publicado: (2019)

Knowledge-based best of breed approach for automated detection of clinical events based on German free text digital hospital discharge letters
por: König, Maximilian, et al.
Publicado: (2019)

DNA Damage in Nijmegen Breakage Syndrome Cells Leads to PARP Hyperactivation and Increased Oxidative Stress
por: Krenzlin, Harald, et al.
Publicado: (2012)

Physical activity and cohabitation status moderate the link between diabetes mellitus and cognitive performance in a community-dwelling elderly population in Germany
por: Fink, Anne, et al.
Publicado: (2017)

Problematic drinking in the old and its association with muscle mass and muscle function in type II diabetes
por: Buchmann, Nikolaus, et al.
Publicado: (2019)

Potentially inappropriate medication in older participants of the Berlin Aging Study II (BASE-II) – Sex differences and associations with morbidity and medication use
por: Toepfer, Sarah, et al.
Publicado: (2019)

Low muscle strength and increased arterial stiffness go hand in hand
por: König, Maximilian, et al.
Publicado: (2021)

LP(A) AND METABOLIC SYNDROME IN OLDER PEOPLE
por: Buchmann, Nikolaus, et al.
Publicado: (2022)

ASSOCIATIONS AMONG LATENT FACTORS OF METABOLIC LOAD, BRAIN VOLUME, AND COGNITION IN HEALTHY AGING
por: Duezel, Sandra, et al.
Publicado: (2022)

Low-density lipoprotein cholesterol goal attainment in patients with clinical evidence of familial hypercholesterolemia and elevated Lp(a)
por: Schwarz, Andrea, et al.
Publicado: (2022)

Structural Brain Correlates of Loneliness among Older Adults
por: Düzel, Sandra, et al.
Publicado: (2019)

FEELING YOUNGER, BEING YOUNGER: ASSOCIATIONS BETWEEN BIOLOGICAL AGE AND SUBJECTIVE AGE IN OLDER ADULTS
por: Drewelies, Johanna, et al.
Publicado: (2019)

PROXIES OF FRAILTY AND INFLAMMATION PREDICT ALTERED WHITE MATTER MICROSTRUCTURE IN OLDER ADULTS
por: Bender, Andrew, et al.
Publicado: (2022)

A novel lipoprotein lipase gene missense mutation in Chinese patients with severe hypertriglyceridemia and pancreatitis
por: Chen, Tan-Zhou, et al.
Publicado: (2014)

A Compound Heterozygous Mutation of Lipase Maturation Factor 1 is Responsible for Hypertriglyceridemia of a Patient
por: Liu, Yihui, et al.
Publicado: (2019)

Cohort profile: role of lipoproteins in cardiovascular disease—the LipidCardio study
por: König, Maximilian, et al.
Publicado: (2019)

Validation of a single factor representing the indicators of metabolic syndrome as a continuous measure of metabolic load and its association with health and cognitive function
por: Düzel, Sandra, et al.
Publicado: (2018)

Correction: Long-term gait measurements in daily life: Results from the Berlin Aging Study II (BASE-II)
por: Kiselev, Jörn, et al.
Publicado: (2020)

Long-term gait measurements in daily life: Results from the Berlin Aging Study II (BASE-II)
por: Kiselev, Jörn, et al.
Publicado: (2019)

RELATIONSHIP BETWEEN METABOLIC HEALTH AND 5 EPIGENETIC CLOCKS IN THE BERLIN AGING STUDY II (BASE-II)
por: Demuth, Ilja, et al.
Publicado: (2022)

A ROUTINE BLOOD PARAMETER BIOLOGICAL AGE COMPOSITE IS ASSOCIATED WITH FRAILTY IN THE BERLIN AGING STUDY II (BASE-II)
por: Demuth, Ilja, et al.
Publicado: (2022)

THE ROLE OF MULTIDOMAIN IDENTITY AND SOCIAL BACKGROUND FACTORS FOR AGING OUTCOMES
por: Drewelies, Johanna, et al.
Publicado: (2022)

Prolonged-release nicotinic acid for the management of dyslipidemia: an update including results from the NAUTILUS study
por: Vogt, Anja, et al.
Publicado: (2007)

POOR GLUCOSE REGULATION IS ASSOCIATED WITH LOWER WELL-BEING AMONG OLDER MEN, BUT NOT WOMEN
por: Mantantzis, Konstantinos, et al.
Publicado: (2019)

Muscle Mass and Inflammation in Older Adults: Impact of the Metabolic Syndrome
por: Buchmann, Nikolaus, et al.
Publicado: (2022)

Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia‐induced acute pancreatitis in pregnancy
por: Shi, Xiao‐Lei, et al.
Publicado: (2020)

T cell phenotypes associated with insulin resistance: results from the Berlin Aging Study II
por: Sbierski-Kind, Julia, et al.
Publicado: (2020)

A Systematic Literature Review of the Association of Lipoprotein(a) and Autoimmune Diseases and Atherosclerosis
por: Missala, I., et al.
Publicado: (2012)

Lipoprotein Lipase: Is It a Magic Target for the Treatment of Hypertriglyceridemia
por: Moon, Joon Ho, et al.
Publicado: (2022)

Statins Aggravate the Risk of Insulin Resistance in Human Muscle
por: Grunwald, Stefanie A., et al.
Publicado: (2022)

Relationship between Lipoprotein (a) and cognitive function – Results from the Berlin Aging Study II
por: Röhr, Franziska, et al.
Publicado: (2020)

Linking Brain Age Gap to Mental and Physical Health in the Berlin Aging Study II
por: Jawinski, Philippe, et al.
Publicado: (2022)

Management of severe hypertriglyceridemia due to lipoprotein lipase deficiency in children
por: Poon, Sarah W Y, et al.
Publicado: (2019)

Sex-specific and inter-individual differences in biomarkers of selenium status identified by a calibrated ELISA for selenoprotein P
por: Hybsier, Sandra, et al.
Publicado: (2016)

Cannot write session to /tmp/vufind_sessions/sess_a8pemfnknl2in7esets031hv7d