Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype. (Record no. 23687108)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02169 a2200625 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516204122.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201501s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1578-8989 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.medcli.2014.01.032 |
| 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 | San Román-Monserrat, Irene |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150102 |
| 245 00 - TITLE STATEMENT | |
| Title | Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Medicina clinica |
| Date of publication, distribution, etc. | Jun 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 497-504 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 | 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 | Amino Acid Substitution |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Arrhythmias, Cardiac |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Enzyme Replacement Therapy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Eye Diseases |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Fabry Disease |
| General subdivision | complications |
| 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 | Genotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heart Arrest |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Heart Transplantation |
| 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, Left Ventricular |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Kidney |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Kidney Diseases, Cystic |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Kidney Failure, Chronic |
| General subdivision | etiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Kidney Transplantation |
| 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, Missense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Myocardium |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 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 | Spain |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | alpha-Galactosidase |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Moreno-Flores, Victoria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | López-Cuenca, David |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodríguez-González-Herrero, Elena |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guillén-Navarro, Encarna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodríguez-González-Herrero, Beatriz |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Alegría-Fernández, Marisol |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poza-Cisneros, Gabriela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Piñero-Fernández, Juan A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sornichero-Martínez, Javier |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gimeno-Blanes, Juan R |
| 773 0# - HOST ITEM ENTRY | |
| Title | Medicina clinica |
| Related parts | vol. 142 |
| -- | no. 11 |
| -- | p. 497-504 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.medcli.2014.01.032">https://doi.org/10.1016/j.medcli.2014.01.032</a> |
| Public note | Available from publisher's website |
No items available.