Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia. (Record no. 27188241)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02225 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517154022.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201801s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1879-1484 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.atherosclerosis.2017.05.002 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Buonuomo, Paola Sabrina |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180129 |
| 245 00 - TITLE STATEMENT | |
| Title | Timely diagnosis of sitosterolemia by next generation sequencing in two children with severe hypercholesterolemia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Atherosclerosis |
| Date of publication, distribution, etc. | 07 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 71-77 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | ATP Binding Cassette Transporter, Subfamily G, Member 5 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | ATP Binding Cassette Transporter, Subfamily G, Member 8 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Anticholesteremic Agents |
| General subdivision | therapeutic use |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Biomarkers |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cholesterol, LDL |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Codon, Nonsense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Mutational Analysis |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Diet, Fat-Restricted |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ezetimibe |
| General subdivision | therapeutic use |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heterozygote |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | High-Throughput Nucleotide Sequencing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hypercholesterolemia |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Intestinal Diseases |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lipid Metabolism, Inborn Errors |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lipoproteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phytosterols |
| General subdivision | adverse effects |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Predictive Value of Tests |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Severity of Illness Index |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Treatment Outcome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Up-Regulation |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Iughetti, Lorenzo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pisciotta, Livia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rabacchi, Claudio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Papadia, Francesco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bruzzi, Patrizia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tummolo, Albina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bartuli, Andrea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cortese, Claudio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bertolini, Stefano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Calandra, Sebastiano |
| 773 0# - HOST ITEM ENTRY | |
| Title | Atherosclerosis |
| Related parts | vol. 262 |
| -- | p. 71-77 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.atherosclerosis.2017.05.002">https://doi.org/10.1016/j.atherosclerosis.2017.05.002</a> |
| Public note | Available from publisher's website |
No items available.