A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations. (Record no. 21094935)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01411 a2200373 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516052404.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201203s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1442-200X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1111/j.1442-200X.2010.03255.x |
| 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 | Ghirri, Paolo |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20120320 |
| 245 00 - TITLE STATEMENT | |
| Title | A case of D-bifunctional protein deficiency: clinical, biochemical and molecular investigations. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Pediatrics international : official journal of the Japan Pediatric Society |
| Date of publication, distribution, etc. | Aug 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 583-7 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 | 17-Hydroxysteroid Dehydrogenases |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fatal Outcome |
| 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 | Hydro-Lyases |
| General subdivision | deficiency |
| 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 | Peroxisomal Disorders |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Peroxisomal Multifunctional Protein-2 |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vuerich, Marco |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ferdinandusse, Sacha |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Waterham, Hans R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guzzetta, Andrea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bianchi, Maria C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boldrini, Antonio |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wanders, Ronald J A |
| 773 0# - HOST ITEM ENTRY | |
| Title | Pediatrics international : official journal of the Japan Pediatric Society |
| Related parts | vol. 53 |
| -- | no. 4 |
| -- | p. 583-7 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1111/j.1442-200X.2010.03255.x">https://doi.org/10.1111/j.1442-200X.2010.03255.x</a> |
| Public note | Available from publisher's website |
No items available.