Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. (Record no. 2856777)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01415 a2200409 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250512022509.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 198903s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0340-6199 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/BF00441413 |
| 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 | Gibson, K M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 19890303 |
| 245 00 - TITLE STATEMENT | |
| Title | Mevalonate kinase deficiency in a child with cerebellar ataxia, hypotonia and mevalonic aciduria. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of pediatrics |
| Date of publication, distribution, etc. | Dec 1988 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 250-2 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 | Carboxy-Lyases |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cells, Cultured |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cerebellar Ataxia |
| General subdivision | complications |
| 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 | Fibroblasts |
| General subdivision | enzymology |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Methylmalonyl-CoA Decarboxylase |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mevalonic Acid |
| General subdivision | urine |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscle Hypotonia |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phosphotransferases |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phosphotransferases (Alcohol Group Acceptor) |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hoffmann, G |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nyhan, W L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sweetman, L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Berger, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | le Coultre, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smit, G P |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of pediatrics |
| Related parts | vol. 148 |
| -- | no. 3 |
| -- | p. 250-2 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/BF00441413">https://doi.org/10.1007/BF00441413</a> |
| Public note | Available from publisher's website |
No items available.