A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease. (Record no. 24708244)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01405 a2200409 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517022207.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201710s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2212-1692 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.pedneo.2014.05.008 |
| 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 | Lin, Yi-Jie |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20171004 |
| 245 00 - TITLE STATEMENT | |
| Title | A Truncating De Novo Point Mutation in a Young Infant with Severe Menkes Disease. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Pediatrics and neonatology |
| Date of publication, distribution, etc. | 02 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 89-92 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 | Adenosine Triphosphatases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cation Transport Proteins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Copper-Transporting ATPases |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Histidine |
| General subdivision | analogs & derivatives |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Menkes Kinky Hair Syndrome |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Organometallic Compounds |
| General subdivision | therapeutic use |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ho, Che-Sheng |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hsu, Chyong-Hsin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lin, Ju-Li |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chuang, Chih-Kuang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tsai, Jen-Daw |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chiu, Nan-Chang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lin, Hsiang-Yu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lin, Shuan-Pei |
| 773 0# - HOST ITEM ENTRY | |
| Title | Pediatrics and neonatology |
| Related parts | vol. 58 |
| -- | no. 1 |
| -- | p. 89-92 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.pedneo.2014.05.008">https://doi.org/10.1016/j.pedneo.2014.05.008</a> |
| Public note | Available from publisher's website |
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