Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program. (Record no. 29238312)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02230 a2200649 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518015527.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202006s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/s41431-018-0330-0 |
| 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 | Navarrete, Rosa |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200615 |
| 245 00 - TITLE STATEMENT | |
| Title | Value of genetic analysis for confirming inborn errors of metabolism detected through the Spanish neonatal screening program. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | 04 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 556-562 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| 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 | Infant, Newborn |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Lipid Metabolism, Inborn Errors |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Metabolism, Inborn Errors |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neonatal Screening |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Spain |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Leal, Fátima |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vega, Ana I |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morais-López, Ana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Garcia-Silva, María Teresa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martín-Hernández, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Quijada-Fraile, Pilar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bergua, Ana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vives, Inmaculada |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | García-Jiménez, Inmaculada |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yahyaoui, Raquel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pedrón-Giner, Consuelo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Belanger-Quintana, Amaya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stanescu, Sinziana |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cañedo, Elvira |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | García-Campos, Oscar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bueno-Delgado, María |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Delgado-Pecellín, Carmen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vitoria, Isidro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rausell, María Dolores |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Balmaseda, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Couce, Mari Luz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Desviat, Lourdes R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Merinero, Begoña |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodríguez-Pombo, Pilar |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ugarte, Magdalena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pérez-Cerdá, Celia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pérez, Belén |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 27 |
| -- | no. 4 |
| -- | p. 556-562 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/s41431-018-0330-0">https://doi.org/10.1038/s41431-018-0330-0</a> |
| Public note | Available from publisher's website |
No items available.