Expanding the clinical spectrum of POMT1 phenotype. (Record no. 16316010)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01839 a2200613 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250515025755.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200606s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1526-632X |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1212/01.wnl.0000216145.66476.36 |
| 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 | D'Amico, A |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20060628 |
| 245 00 - TITLE STATEMENT | |
| Title | Expanding the clinical spectrum of POMT1 phenotype. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Neurology |
| Date of publication, distribution, etc. | May 2006 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1564-7; discussion 1461 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 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 | Age of Onset |
| 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 | Codon, Nonsense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Contracture |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Disease Progression |
| 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 | Glycosylation |
| 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 | Hypertrophy |
| 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 | Intellectual Disability |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Leg |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Magnetic Resonance Imaging |
| 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 | Mannosyltransferases |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Microcephaly |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscular Dystrophies |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Point Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Processing, Post-Translational |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tessa, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bruno, C |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Petrini, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Biancheri, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pane, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pedemonte, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ricci, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Falace, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rossi, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mercuri, E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Santorelli, F M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bertini, E |
| 773 0# - HOST ITEM ENTRY | |
| Title | Neurology |
| Related parts | vol. 66 |
| -- | no. 10 |
| -- | p. 1564-7; discussion 1461 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1212/01.wnl.0000216145.66476.36">https://doi.org/10.1212/01.wnl.0000216145.66476.36</a> |
| Public note | Available from publisher's website |
No items available.