Clinical and biochemical heterogeneity associated with fumarase deficiency. (Record no. 20823318)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01883 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516035222.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201404s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.21534 |
| 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 | Ottolenghi, Chris |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140417 |
| 245 00 - TITLE STATEMENT | |
| Title | Clinical and biochemical heterogeneity associated with fumarase deficiency. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Sep 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1046-52 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 | Cell Hypoxia |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Computer Simulation |
| 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 | Fumarate Hydratase |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fumarates |
| General subdivision | urine |
| 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 | Hypoxia-Inducible Factor 1, alpha Subunit |
| General subdivision | metabolism |
| 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 | Malformations of Cortical Development |
| General subdivision | enzymology |
| 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 | Signal Transduction |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hubert, Laurence |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Allanore, Yannick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brassier, Anais |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Altuzarra, Cécilia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mellot-Draznieks, Caroline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bekri, Soumeya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Goldenberg, Alice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Veyrieres, Severine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boddaert, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Barbier, Valérie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Valayannopoulos, Vassili |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Slama, Abdelhamid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chrétien, Dominique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ricquier, Daniel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marret, Stéphane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Frebourg, Thierry |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rabier, Daniel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Munnich, Arnold |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Keyzer, Yves |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Toulhoat, Hervé |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Lonlay, Pascale |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 32 |
| -- | no. 9 |
| -- | p. 1046-52 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.21534">https://doi.org/10.1002/humu.21534</a> |
| Public note | Available from publisher's website |
No items available.