Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden? (Record no. 30715607)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01732 a2200541 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518091048.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202011s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 2214-3602 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.3233/JND-200475 |
| 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 | Müller-Felber, Wolfgang |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20201116 |
| 245 00 - TITLE STATEMENT | |
| Title | Infants Diagnosed with Spinal Muscular Atrophy and 4 SMN2 Copies through Newborn Screening - Opportunity or Burden? |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Journal of neuromuscular diseases |
| Date of publication, distribution, etc. | 2020 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 109-117 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 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 | Follow-Up Studies |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Germany |
| 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 | Infant |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Muscular Atrophy, Spinal |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neonatal Screening |
| 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 | Pilot Projects |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Survival of Motor Neuron 1 Protein |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Survival of Motor Neuron 2 Protein |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vill, Katharina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schwartz, Oliver |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gläser, Dieter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nennstiel, Uta |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wirth, Brunhilde |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Burggraf, Siegfried |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Röschinger, Wulf |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Becker, Marc |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Durner, Jürgen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Eggermann, Katja |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Müller, Christine |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hannibal, Iris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Olgemöller, Bernd |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schara, Ulrike |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Blaschek, Astrid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kölbel, Heike |
| 773 0# - HOST ITEM ENTRY | |
| Title | Journal of neuromuscular diseases |
| Related parts | vol. 7 |
| -- | no. 2 |
| -- | p. 109-117 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.3233/JND-200475">https://doi.org/10.3233/JND-200475</a> |
| Public note | Available from publisher's website |
No items available.