Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study. (Record no. 28776846)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01939 a2200601 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517234157.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201911s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1573-2665 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s10545-018-0243-7 |
| 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 | Semplicini, Claudio |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20191105 |
| 245 00 - TITLE STATEMENT | |
| Title | Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of inherited metabolic disease |
| Date of publication, distribution, etc. | 11 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 937-946 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 | Adult |
| 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 | Aged |
| 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 | Child, Preschool |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cohort Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Delayed Diagnosis |
| 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 | France |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Association Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycogen Storage Disease Type II |
| General subdivision | epidemiology |
| 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 | Middle Aged |
| 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 | Young Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | alpha-Glucosidases |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Letard, Pascaline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Antonio, Marie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Taouagh, Nadjib |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Perniconi, Barbara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bouhour, Françoise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Echaniz-Laguna, Andoni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Orlikowski, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sacconi, Sabrina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Salort-Campana, Emmanuelle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Solé, Guilhem |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zagnoli, Fabien |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hamroun, Dalil |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Froissart, Roseline |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Caillaud, Catherine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laforêt, Pascal |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of inherited metabolic disease |
| Related parts | vol. 41 |
| -- | no. 6 |
| -- | p. 937-946 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s10545-018-0243-7">https://doi.org/10.1007/s10545-018-0243-7</a> |
| Public note | Available from publisher's website |
No items available.