Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort. (Record no. 21395127)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01459 a2200493 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516070902.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201203s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1879-0038 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.gene.2011.11.052 |
| 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 | Funghini, S |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120330 |
| 245 00 - TITLE STATEMENT | |
| Title | Carbamoyl phosphate synthetase 1 deficiency in Italy: clinical and genetic findings in a heterogeneous cohort. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Gene |
| Date of publication, distribution, etc. | Feb 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 228-34 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carbamoyl-Phosphate Synthase (Ammonia) |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carbamoyl-Phosphate Synthase I Deficiency Disease |
| General subdivision | diagnosis |
| 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 | Cohort Studies |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Infant |
| 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 | Italy |
| 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 | Mutation |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thusberg, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Spada, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gasperini, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Parini, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ventura, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meli, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Cosmo, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sibilio, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mooney, S D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guerrini, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Donati, M A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morrone, A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Gene |
| Related parts | vol. 493 |
| -- | no. 2 |
| -- | p. 228-34 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.gene.2011.11.052">https://doi.org/10.1016/j.gene.2011.11.052</a> |
| Public note | Available from publisher's website |
No items available.