[X-linked adrenoleukodystrophy in a female proband: clinical presentation, biological diagnosis and family consequences]. (Record no. 15542151)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01501 a2200397 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514225300.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200510s 0 0 fre d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0929-693X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.arcped.2005.03.050 |
| 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 | Lesca, G |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20051025 |
| 245 00 - TITLE STATEMENT | |
| Title | [X-linked adrenoleukodystrophy in a female proband: clinical presentation, biological diagnosis and family consequences]. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Archives de pediatrie : organe officiel de la Societe francaise de pediatrie |
| Date of publication, distribution, etc. | Aug 2005 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1237-40 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 | ATP Binding Cassette Transporter, Subfamily D, Member 1 |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | ATP-Binding Cassette Transporters |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adrenoleukodystrophy |
| General subdivision | diagnosis |
| 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 | Chromosomes, Human, Y |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fecal Incontinence |
| General subdivision | etiology |
| 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 | Genetic Counseling |
| 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 | Paraparesis, Spastic |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vanier, M T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Creisson, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bendelac, N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hainque, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ollagnon-Roman, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Aubourg, P |
| 773 0# - HOST ITEM ENTRY | |
| Title | Archives de pediatrie : organe officiel de la Societe francaise de pediatrie |
| Related parts | vol. 12 |
| -- | no. 8 |
| -- | p. 1237-40 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.arcped.2005.03.050">https://doi.org/10.1016/j.arcped.2005.03.050</a> |
| Public note | Available from publisher's website |
No items available.