Infantile-onset Pompe disease with neonatal debut: A case report and literature review. (Record no. 28034123)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01596 a2200481 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517200139.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201802s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1536-5964 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1097/MD.0000000000009186 |
| 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 | Martínez, Miriam |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180214 |
| 245 00 - TITLE STATEMENT | |
| Title | Infantile-onset Pompe disease with neonatal debut: A case report and literature review. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Medicine |
| Date of publication, distribution, etc. | Dec 2017 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | e9186 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Review |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Biopsy, Needle |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Cardiomyopathy, Hypertrophic |
| General subdivision | etiology |
| 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 | Fatal Outcome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Glycogen Storage Disease Type II |
| General subdivision | complications |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Homozygote |
| 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 | Immunohistochemistry |
| 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 | Infant, Newborn, Diseases |
| General subdivision | diagnosis |
| 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 | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Rare Diseases |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Risk Assessment |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Severity of Illness Index |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ventricular Fibrillation |
| General subdivision | diagnosis |
| 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 | Romero, Mar García |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guereta, Luis García |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cabrera, Marta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Regojo, Rita M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Albajara, Luis |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Couce, Maria L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pipaon, Miguel Saenz de |
| 773 0# - HOST ITEM ENTRY | |
| Title | Medicine |
| Related parts | vol. 96 |
| -- | no. 51 |
| -- | p. e9186 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1097/MD.0000000000009186">https://doi.org/10.1097/MD.0000000000009186</a> |
| Public note | Available from publisher's website |
No items available.