Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis. (Record no. 26931647)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02114 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517142107.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201708s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1573-2665 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s10545-017-0021-y |
| 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 | Paquay, Stéphanie |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20170824 |
| 245 00 - TITLE STATEMENT | |
| Title | Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of inherited metabolic disease |
| Date of publication, distribution, etc. | 05 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 415-422 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 | Acetyl-CoA C-Acetyltransferase |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Acetyl-CoA C-Acyltransferase |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adolescent |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Metabolism, Inborn Errors |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Basal Ganglia |
| General subdivision | metabolism |
| 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 | Infant |
| 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 | Isoleucine |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ketone Bodies |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ketosis |
| 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 | Mitochondria |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neonatal Screening |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Retrospective Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bourillon, Agnès |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pichard, Samia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Benoist, Jean-François |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | de Lonlay, Pascale |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dobbelaere, Dries |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fouilhoux, Alain |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guffon, Nathalie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rouvet, Isabelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Labarthe, François |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mention, Karine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Touati, Guy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Valayannopoulos, Vassili |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ogier de Baulny, Hélène |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elmaleh-Bergès, Monique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Acquaviva-Bourdain, Cécile |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vianey-Saban, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schiff, Manuel |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of inherited metabolic disease |
| Related parts | vol. 40 |
| -- | no. 3 |
| -- | p. 415-422 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s10545-017-0021-y">https://doi.org/10.1007/s10545-017-0021-y</a> |
| Public note | Available from publisher's website |
No items available.