Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure. (Record no. 20411720)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01458 a2200409 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516013901.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201104s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1536-4801 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1097/MPG.0b013e3181f50388 |
| 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 | Balasubramaniam, S |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20110404 |
| 245 00 - TITLE STATEMENT | |
| Title | Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of pediatric gastroenterology and nutrition |
| Date of publication, distribution, etc. | Jan 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 113-6 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 | Genes |
| 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 | 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 | Liver Failure, Acute |
| General subdivision | diagnosis |
| 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 | Metabolism, Inborn Errors |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Monosaccharides |
| General subdivision | urine |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pentose Phosphate Pathway |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Polymers |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Transaldolase |
| General subdivision | deficiency |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wamelink, Mirjam M C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ngu, Lock-Hock |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Talib, Arni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Salomons, Gajja S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jakobs, Cornelis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Keng, Wee-Teik |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of pediatric gastroenterology and nutrition |
| Related parts | vol. 52 |
| -- | no. 1 |
| -- | p. 113-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1097/MPG.0b013e3181f50388">https://doi.org/10.1097/MPG.0b013e3181f50388</a> |
| Public note | Available from publisher's website |
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