Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD. (Record no. 25972727)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01315 a2200385 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517093055.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201712s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1750-1172 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1186/s13023-016-0433-z |
| 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 | Picker-Minh, Sylvie |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20171204 |
| 245 00 - TITLE STATEMENT | |
| Title | Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Orphanet journal of rare diseases |
| Date of publication, distribution, etc. | 04 2016 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 52 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Letter |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Carboxylic Ester Hydrolases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Expression Regulation, Enzymologic |
| 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 | Mitochondrial Proteins |
| General subdivision | genetics |
| 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 | Pancreatic Diseases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mignot, Cyril |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Doummar, Diane |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hashem, Mais |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Faqeih, Eissa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Josset, Patrice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dubern, Béatrice |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alkuraya, Fowzan S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kraemer, Nadine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kaindl, Angela M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Orphanet journal of rare diseases |
| Related parts | vol. 11 |
| -- | no. 1 |
| -- | p. 52 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1186/s13023-016-0433-z">https://doi.org/10.1186/s13023-016-0433-z</a> |
| Public note | Available from publisher's website |
No items available.