A non-classical presentation of tangier disease with three ABCA1 mutations

Keyphrases

• ATP-binding Cassette Transporter A1 (ABCA1) 100%
• High-density Lipoprotein Cholesterol (HDL-C) 100%
• Tangier Disease 100%
• Exon 60%
• Tonsil 40%
• Hepatosplenomegaly 40%
• ABCA1 Gene 40%
• Lipoprotein Levels 40%
• Myocardial Infarction 20%
• Functional Studies 20%
• Lymph Node 20%
• Liver 20%
• Alzheimer's Disease 20%
• Hypertension 20%
• Peripheral Neuropathy 20%
• Thrombocytopenia 20%
• Family History 20%
• Spleen 20%
• Patient numbers 20%
• Specific Treatment 20%
• Thrombotic Thrombocytopenic Purpura 20%
• Inherited Disorders 20%
• Autosomal Recessive 20%
• Level Characteristic Values 20%
• Young Female 20%
• Angina 20%
• Premature Coronary Artery Disease 20%
• Multiple Episodes 20%
• Past Medical History 20%
• Tonsillectomy 20%
• Corneal Opacity 20%
• HER Family 20%
• Alzheime's Disease 20%
• Corneal Lesion 20%

Medicine and Dentistry

• High-Density Lipoprotein 100%
• Hypoalphalipoproteinemia 100%
• Exon 60%
• Tonsil 40%
• Hepatosplenomegaly 40%
• Alzheimer's Disease 20%
• Coronary Artery Disease 20%
• Myocardial Infarction 20%
• Neuropathy 20%
• Family History 20%
• Lymph Node 20%
• Autosomal Recessive Inheritance 20%
• Physical Examination 20%
• Thrombocytopenia 20%
• Hepatomegaly 20%
• Tonsillectomy 20%
• Cornea Opacity 20%
• Cornea Lesion 20%
• Angina pectoris 20%
• Idiopathic Thrombocytopenic Purpura 20%
• Allele 20%
• Diseases 20%
• Hypertension 20%
• Medical History 20%

Biochemistry, Genetics and Molecular Biology

• ABCA1 100%
• Hypoalphalipoproteinemia 100%
• High-Density Lipoprotein 100%
• Exon 60%
• Allele 20%
• Autosomal Recessive Inheritance 20%
• Thrombocytopenia 20%
• Idiopathic Thrombocytopenic Purpura 20%
• Coronary Artery Disease 20%