7 ePosters
Session Name- SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias
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- SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias
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3. DYSLIPIDEMIA AND RISK FACTORS || 3.5 Inherited dyslipidemias
SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias
119 - Clinical differentiation and mutation spectrum of chylomicronemia patients in a German outpatient clinic. (ID 348)
Session Name
SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias
Presentation Topic
3.5 Inherited dyslipidemias
Presenter
SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias
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120 - Familial Chylomicronaemia Syndrome: National Genetics Testing Results from the United Kingdom (ID 544)
Session Name
SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias
Presentation Topic
3.5 Inherited dyslipidemias
Presenter
SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias
121 - An initial analysis of the United Kingdom registry of Familial Chylomicronaemia Syndrome patients (ID 575)
Session Name
SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias
Presentation Topic
3.5 Inherited dyslipidemias
Presenter
Authors
- Zohaib Iqbal, United Kingdom
- See Kwok, United Kingdom
- Rachelle Donn, United Kingdom
- Jan H. Ho, United Kingdom
- Alan Jones, United Kingdom
- Michael Mansfield, United Kingdom
- Anthony S. Wierzbick, United Kingdom
- Pankaj Gupta, United Kingdom
- Charlotte Dawson, United Kingdom
- Zosia Miedzybrodzka8, United Kingdom
- Paul Downie, United Kingdom
- Handrean Soran, United Kingdom
SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias
122 - Mutation in candidate genes account for a small minority of hypobetalipoproteinemias and NGS analysis support polygenicity in mutation-negative patients (ID 925)
Session Name
SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias
Presentation Topic
3.5 Inherited dyslipidemias
Presenter
Authors
- Antonina Giammanco, Italy
- Chiara Scrimali, Italy
- Rossella Spina, Italy
- Valeria Ingrassia, Italy
- Federica Brucato, Italy
- Vincenza Valenti, Italy
- Angelo Baldassare Cefalù, Italy
- Gabriella Misiano, Italy
- Grazia Ida Altieri, Italy
- Davide Noto, Italy
- Carlo Maria Barbagallo, Italy
- Antonina Ganci, Italy
- Francesca Fayer, Italy
- Maurizio Averna, Italy
SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias
123 - Spectrum of genetic variants in patients suffering from Familial chylomicronaemia syndrome and multifactorial chylomicronaemia syndrome. (ID 956)
Session Name
SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias
Presentation Topic
3.5 Inherited dyslipidemias
Presenter
SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias
124 - Palmar striated xanthomas expression beyond type III dysbetalipoproteinemia (ID 1119)
Session Name
SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias
Presentation Topic
3.5 Inherited dyslipidemias
Presenter
SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias
screeningprograminchildrenenablesalsodetectionoflysosomalacidlipasedeficiency(lal-d)/thumbnails/0.png)
125 - Universal familial hypercholesterolemia (FH) screening program in children enables also detection of lysosomal acid lipase deficiency (LAL-D) (ID 1153)
Session Name
SaaG e-Posters: Familial chylomicronemia and dysbetalipoproteinemias
Presentation Topic
3.5 Inherited dyslipidemias
Presenter