Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. (Record no. 11319484)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01748 a2200529 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514001659.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200110s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0340-6199 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1007/s004310100740 |
| 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 | Möslinger, D |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20011004 |
| 245 00 - TITLE STATEMENT | |
| Title | Clinical and neuropsychological outcome in 33 patients with biotinidase deficiency ascertained by nationwide newborn screening and family studies in Austria. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of pediatrics |
| Date of publication, distribution, etc. | May 2001 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 277-82 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 | Amidohydrolases |
| General subdivision | deficiency |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Austria |
| General subdivision | epidemiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Biotin |
| General subdivision | analogs & derivatives |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Biotinidase |
| 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 | Chromatography, High Pressure Liquid |
| 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 | Female |
| 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 | Lysine |
| General subdivision | administration & dosage |
| 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 | Metabolism, Inborn Errors |
| 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 | Treatment Outcome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stöckler-Ipsiroglu, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scheibenreiter, S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Tiefenthaler, M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mühl, A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Seidl, R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Strobl, W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Plecko, B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Suormala, T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Baumgartner, E R |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of pediatrics |
| Related parts | vol. 160 |
| -- | no. 5 |
| -- | p. 277-82 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1007/s004310100740">https://doi.org/10.1007/s004310100740</a> |
| Public note | Available from publisher's website |
No items available.