Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. (Record no. 23628036)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01699 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516202110.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201412s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1097-4598 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/mus.24224 |
| 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 | Srour, Myriam |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20141217 |
| 245 00 - TITLE STATEMENT | |
| Title | Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Muscle & nerve |
| Date of publication, distribution, etc. | Nov 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 775-9 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 | Bulbar Palsy, Progressive |
| General subdivision | diet therapy |
| 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 | DNA Mutational Analysis |
| 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 | Family Health |
| 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 | Genetic Linkage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Hearing Loss, Sensorineural |
| General subdivision | diet therapy |
| 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 | Mutation, Missense |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neurologic Examination |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Receptors, G-Protein-Coupled |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Riboflavin |
| General subdivision | administration & dosage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sural Nerve |
| General subdivision | pathology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Putorti, Maria Lisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schwartzentruber, Jeremy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bolduc, Véronique |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shevell, Michael Israel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Poulin, Chantal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | O'ferrall, Erin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Buhas, Daniela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Majewski, Jacek |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Brais, Bernard |
| 773 0# - HOST ITEM ENTRY | |
| Title | Muscle & nerve |
| Related parts | vol. 50 |
| -- | no. 5 |
| -- | p. 775-9 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/mus.24224">https://doi.org/10.1002/mus.24224</a> |
| Public note | Available from publisher's website |
No items available.