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Tangier disease
Some ABCA3 Mutations Elevate ER Stress and Initiate Apoptosis of Lung Epithelial Cells
Commonly Used Lipidcentric ICD-10 (ICD-9) Codes
Pathology of Tangier Disease
Mutation of the ABCA1 Gene in Hypoalphalipoproteinemia with Corneal Lipidosis
Transient Dyslipidemia Mimicking the Plasma Lipid Profile of Tangier Disease in a Diabetic Patient with Gram Negative Sepsis
Download CGT Exome V2.0
Genetic Dyslipidemia and Cardiovascular Diseases
ABCA1) in Human Disease
Dyslipidemia Infosheet 6-10-19
Studies on the Protein Defect in Tangier Disease
Whole Exome Sequencing Gene Package Metabolic Disorders, Version 5.1, 31-1-2020
Tangier Disease)
Genomic Organization and Identification of the Genetic Defect in the Original Tangier Disease Kindred
WES Gene Package Metabolic Disorders.Xlsx
Genes Included in the Next-Generation Sequencing Panel for Inherited Cytopenias
Exome Sequencing Enhanced Package Department of Pathology and Laboratory Medicine Feb 2012 UCLA Molecular Diagnostics Laboratories Page:1
Inherent Flaw of Cholesterol Processing in Cell
Update on Neuropathies in Inborn Errors of Metabolism
Top View
Mendeliome Panel Versie V3 (4362 Genen) Centrum Voor Medische Genetica Gent
Inherited Thrombocytopenia Precision Panel Overview Indications
Hypocholesterolemia: a Neglected Laboratory Finding
ABC1: Connecting Yellow Tonsils, Neuropathy, and Very Low HDL
Biennial Report on the Rare Diseases Research Activities at the National Institutes of Health FY 2006
Supplementary Materials Table S1. List of 63 Evaluated Genes Related to Dyslipidemia and Premature Atherosclerosis with Associated Phenotypes
Regulation of ATP Binding Cassette Transporter A1 (ABCA1)
Diagnosis and Treatment of High Density Lipoprotein Deficiency
Metabolske Sykdommer V02
ABC Transporters and Human Disease: from Cholestasis to Heart Disease
The Lipoprotein Abnormality in Tangier Disease: Quantitation of a Apoproteins
Supplemental Information
Familial HDL Deficiency
Tangier-Disease.Pdf
Nutritional and Metabolic Diseases Nutritional and Metabolic Diseases
Postprandial Hypertriglyceridaemia in Patients with Tangier Disease
Neurometabolic Disorder with Neuromuscular Manifestation
Phs001516.V1.P1 OMIM ID
HDL Deficiency Due to Tangier Disease. a Novel Mutation of ABCA1 Cholesterol Tranporter Gene
Individual Genome Sequence Gene List (By Disease)
Respiratory Research Biomed Central
The Pathology of Tangier Disease a Light and Electron Amicroscopic Study
Novel Mutations in ABCA1 Gene in Japanese Patients with Tangier Disease and Familial High Density Lipoprotein De¢Ciency with Coronary Heart Disease
Prevalence and Incidence of Rare Diseases: Bibliographic Data
Prevalence and Incidence of Rare Diseases
Table 2: Genetic Classification of the Syndromic Inherited Neuropathies
Neoreviews Quiz