Congenital disorder of glycosylation (CDG) type Ie. A new patient. (Record no. 15348096)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01803 a2200553 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514214806.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200503s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0141-8955 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1023/b:boli.0000042984.42433.d8 |
| 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 | García-Silva, M T |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20050324 |
| 245 00 - TITLE STATEMENT | |
| Title | Congenital disorder of glycosylation (CDG) type Ie. A new patient. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of inherited metabolic disease |
| Date of publication, distribution, etc. | 2004 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 591-600 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carbohydrate Metabolism, Inborn Errors |
| General subdivision | classification |
| 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 | Developmental Disabilities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exons |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Facies |
| 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 | Fibroblasts |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Deletion |
| 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 | Homozygote |
| 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 | Lipopolysaccharides |
| General subdivision | analysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Magnetic Resonance Imaging |
| 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 | Mannosyltransferases |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microcephaly |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Optic Atrophy |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Tomography, X-Ray Computed |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Matthijs, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schollen, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cabrera, J C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sanchez del Pozo, J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martí Herreros, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Simón, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Maties, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Martín Hernández, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hennet, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Briones, P |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of inherited metabolic disease |
| Related parts | vol. 27 |
| -- | no. 5 |
| -- | p. 591-600 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1023/b:boli.0000042984.42433.d8">https://doi.org/10.1023/b:boli.0000042984.42433.d8</a> |
| Public note | Available from publisher's website |
No items available.