Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. (Record no. 24412651)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02094 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517004525.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201507s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1096-7206 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ymgme.2014.09.010 |
| 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 | Banka, Siddharth |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150716 |
| 245 00 - TITLE STATEMENT | |
| Title | Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: a treatable neurological disorder caused by TPK1 mutations. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Molecular genetics and metabolism |
| Date of publication, distribution, etc. | Dec 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 301-6 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 | Acidosis, Lactic |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Sequence |
| 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 | 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 | 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 | Models, Molecular |
| 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 | Nervous System Diseases |
| General subdivision | drug therapy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Conformation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Multimerization |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Thiamin Pyrophosphokinase |
| General subdivision | chemistry |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Thiamine |
| General subdivision | administration & dosage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Thiamine Pyrophosphate |
| General subdivision | metabolism |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Goede, Christian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yue, Wyatt W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morris, Andrew A M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | von Bremen, Beate |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chandler, Kate E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Feichtinger, René G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hart, Claire |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Khan, Nasaim |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lunzer, Verena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mataković, Lavinija |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marquardt, Thorsten |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Makowski, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Prokisch, Holger |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Debus, Otfried |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nosaka, Kazuto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sonwalkar, Hemant |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zimmermann, Franz A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sperl, Wolfgang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mayr, Johannes A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Molecular genetics and metabolism |
| Related parts | vol. 113 |
| -- | no. 4 |
| -- | p. 301-6 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ymgme.2014.09.010">https://doi.org/10.1016/j.ymgme.2014.09.010</a> |
| Public note | Available from publisher's website |
No items available.