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Molecular Genetics and Metabolism, ISSN 1096-7192, 2015, Volume 116, Issue 4, pp. 231 - 241
Tandem MS "profiling" of acylcarnitines and amino acids was conceived as a first-tier screening method, and its application to expanded newborn screening has... 
Newborn screening follow-up | Second-tier analysis | Carnitine analysis | Metabolism research | Quantitative acylcarnitine analysis | MEDICINE, RESEARCH & EXPERIMENTAL | DIFFERENTIAL-DIAGNOSIS | TOTAL CARNITINE | ACID CHAIN-ELONGATION | DRIED BLOOD SPOTS | MASS-SPECTROMETRY | INBORN-ERRORS | PERFORMANCE LIQUID-CHROMATOGRAPHY | ISOVALERIC ACIDEMIA | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | HUMAN-URINE | MOLECULAR-BASIS | Lipid Metabolism, Inborn Errors - urine | Betaine - cerebrospinal fluid | Carbon-Carbon Ligases - blood | Chromatography, High Pressure Liquid - methods | Chromatography, High Pressure Liquid - standards | Humans | Amino Acid Metabolism, Inborn Errors - cerebrospinal fluid | Male | Carbon-Carbon Ligases - cerebrospinal fluid | Neonatal Screening | Isomerism | Acyl-CoA Dehydrogenase - urine | Amino Acid Metabolism, Inborn Errors - diagnosis | Urea Cycle Disorders, Inborn - urine | Amino Acid Metabolism, Inborn Errors - urine | Sensitivity and Specificity | Acetyl-CoA C-Acyltransferase - urine | Acetyl-CoA C-Acyltransferase - blood | Carnitine - urine | Carnitine - cerebrospinal fluid | Female | Betaine - blood | Betaine - urine | Carbon-Carbon Ligases - deficiency | Carnitine - analogs & derivatives | Urea Cycle Disorders, Inborn - blood | Infant, Newborn | Acetyl-CoA C-Acyltransferase - cerebrospinal fluid | Lipid Metabolism, Inborn Errors - cerebrospinal fluid | Reproducibility of Results | Tandem Mass Spectrometry - standards | Lipid Metabolism, Inborn Errors - blood | Lipid Metabolism, Inborn Errors - diagnosis | Carnitine - blood | Carbon-Carbon Ligases - urine | Acyl-CoA Dehydrogenase - cerebrospinal fluid | Amino Acid Metabolism, Inborn Errors - blood | Betaine - analogs & derivatives | Urea Cycle Disorders, Inborn - diagnosis | Acyl-CoA Dehydrogenase - blood | Acyl-CoA Dehydrogenase - deficiency | Acetyl-CoA C-Acyltransferase - deficiency | Urea Cycle Disorders, Inborn - cerebrospinal fluid | Analysis | Carnitine
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Neurology, ISSN 0028-3878, 02/2014, Volume 82, Issue 7, pp. 607 - 613
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Arteriosclerosis, Thrombosis, and Vascular Biology, ISSN 1079-5642, 06/2017, Volume 37, Issue 6, pp. 1068 - 1075
Objective-CETP (cholesteryl ester transfer protein) plays an important role in lipoprotein metabolism; however, whether inhibition of CETP activity can prevent... 
atherosclerosis | apolipoprotein | cholesteryl ester transfer protein genetics | cholesterol reduction | high-density lipoprotein | FAMILIAL HYPERCHOLESTEROLEMIA | NEW-ZEALAND WHITE | TORCETRAPIB | ZINC-FINGER NUCLEASES | HERITABLE HYPERLIPIDEMIC RABBITS | HIGH-DENSITY-LIPOPROTEIN | GENE | PERIPHERAL VASCULAR DISEASE | CETP ACTIVITY | CORONARY-HEART-DISEASE | HEMATOLOGY | TRANSGENIC RABBITS | Lipid Metabolism, Inborn Errors - genetics | Human Umbilical Vein Endothelial Cells - metabolism | Atherosclerosis - genetics | Male | Apolipoproteins B - blood | Aortic Diseases - metabolism | Cholesterol Ester Transfer Proteins - blood | Time Factors | Cholesterol Ester Transfer Proteins - genetics | Coronary Artery Disease - pathology | Aortic Diseases - prevention & control | Female | Aortic Diseases - pathology | Disease Models, Animal | Cell Line | Rabbits | Atherosclerosis - pathology | Cholesterol Ester Transfer Proteins - deficiency | Human Umbilical Vein Endothelial Cells - drug effects | Lipid Metabolism, Inborn Errors - metabolism | Animals, Genetically Modified | Lipid Metabolism, Inborn Errors - blood | Coronary Artery Disease - metabolism | Coronary Artery Disease - prevention & control | E-Selectin - metabolism | Atherosclerosis - metabolism | Gene Editing | Tumor Necrosis Factor-alpha - pharmacology | Aortic Diseases - genetics | Macrophages - metabolism | Animals | Apolipoproteins E - blood | Coronary Artery Disease - genetics | Cholesterol, HDL - blood | Mice | Vascular Cell Adhesion Molecule-1 - metabolism | Cholesterol Ester Transfer Proteins - metabolism | Cholesterol, Dietary | Atherosclerosis - prevention & control | Apolipoprotein A-I - blood
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American Journal of Cardiology, The, ISSN 0002-9149, 2014, Volume 114, Issue 5, pp. 711 - 715
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Archives of Medical Research, ISSN 0188-4409, 04/2018, Volume 49, Issue 3, pp. 205 - 212
Journal Article
Journal of Thrombosis and Haemostasis, ISSN 1538-7933, 09/2017, Volume 15, Issue 9, pp. 1859 - 1866
Background Sitosterolemia (STSL) is a recessive inherited disorder caused by pathogenic variants in the ABCG5 and ABCG8 genes. Increased levels of plasma plant... 
blood platelet disorders | sitosterols | thrombocytopenia | genetic testing | high‐throughput nucleotide sequencing | high-throughput nucleotide sequencing | STEROLS | PHYTOSTEROLEMIA | FAMILY | MEDITERRANEAN STOMATOCYTOSIS/MACROTHROMBOCYTOPENIA | PERIPHERAL VASCULAR DISEASE | STOMATOCYTIC HEMOLYSIS | PATIENT | MUTATIONS | HEMATOLOGY | Xanthomatosis - blood | Lipid Metabolism, Inborn Errors - genetics | Xanthomatosis - genetics | Lipoproteins - genetics | Humans | Lipid Metabolism, Inborn Errors - drug therapy | Middle Aged | Hypercholesterolemia - drug therapy | Thrombocytopenia - genetics | DNA Mutational Analysis | Female | Ezetimibe - therapeutic use | Phytosterols - adverse effects | Genetic Predisposition to Disease | Hypercholesterolemia - blood | Sitosterols - blood | Lipid Metabolism, Inborn Errors - blood | Lipid Metabolism, Inborn Errors - diagnosis | Intestinal Diseases - drug therapy | Intestinal Diseases - genetics | Phytosterols - genetics | Thrombocytopenia - blood | Spain | Intestinal Diseases - diagnosis | Xanthomatosis - diagnosis | Phenotype | Anticholesteremic Agents - therapeutic use | Phytosterols - blood | Intestinal Diseases - blood | Hypercholesterolemia - diagnosis | Thrombocytopenia - diagnosis | High-Throughput Nucleotide Sequencing | Hypercholesterolemia - genetics | Mutation | ATP Binding Cassette Transporter, Sub-Family G, Member 5 - genetics | Hypercholesterolemia | Low density lipoproteins | Genes | Atherosclerosis | Phytosterols | Liquid chromatography | Genetic screening | ABCG5 gene | Next-generation sequencing | Sterols | Exons | Arteriosclerosis | Peripheral blood | Sitosterolemia | Patients | Hereditary diseases
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 08/2016, Volume 118, Issue 4, pp. 272 - 281
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