The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. (Record no. 24805949)
[ view plain ]
000 -LEADER | |
---|---|
fixed length control field | 03512 a2201117 4500 |
005 - DATE AND TIME OF LATEST TRANSACTION | |
control field | 20250517025435.0 |
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
fixed length control field | 201609s 0 0 eng d |
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
International Standard Serial Number | 1573-2665 |
024 7# - OTHER STANDARD IDENTIFIER | |
Standard number or code | 10.1007/s10545-015-9839-3 |
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 | Kölker, Stefan |
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
Date of production, publication, distribution, manufacture, or copyright notice | 20160920 |
245 00 - TITLE STATEMENT | |
Title | The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. |
Medium | [electronic resource] |
260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
Name of publisher, distributor, etc. | Journal of inherited metabolic disease |
Date of publication, distribution, etc. | Nov 2015 |
300 ## - PHYSICAL DESCRIPTION | |
Extent | 1041-57 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 | Aged |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Amino Acid Metabolism, Inborn Errors |
General subdivision | diagnosis |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Brain Diseases, Metabolic |
General subdivision | diagnosis |
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 | Europe |
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 | Glutaryl-CoA Dehydrogenase |
General subdivision | deficiency |
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 | Hyperammonemia |
General subdivision | diagnosis |
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 | Intellectual Disability |
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 | Ornithine Carbamoyltransferase Deficiency Disease |
General subdivision | diagnosis |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Registries |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Urea Cycle Disorders, Inborn |
General subdivision | diagnosis |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Vomiting |
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
Topical term or geographic name entry element | Young Adult |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Garcia-Cazorla, Angeles |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Cazorla, Angeles Garcia |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Valayannopoulos, Vassili |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lund, Allan M |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Burlina, Alberto B |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Sykut-Cegielska, Jolanta |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Wijburg, Frits A |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Teles, Elisa Leão |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Zeman, Jiri |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Dionisi-Vici, Carlo |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Barić, Ivo |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Karall, Daniela |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Augoustides-Savvopoulou, Persephone |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Aksglaede, Lise |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Arnoux, Jean-Baptiste |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Avram, Paula |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Baumgartner, Matthias R |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Blasco-Alonso, Javier |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Chabrol, Brigitte |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Chakrapani, Anupam |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Chapman, Kimberly |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | I Saladelafont, Elisenda Cortès |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Couce, Maria L |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | de Meirleir, Linda |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Dobbelaere, Dries |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Dvorakova, Veronika |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Furlan, Francesca |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gleich, Florian |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Gradowska, Wanda |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Grünewald, Stephanie |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Jalan, Anil |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Häberle, Johannes |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Haege, Gisela |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Lachmann, Robin |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Laemmle, Alexander |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Langereis, Eveline |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | de Lonlay, Pascale |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Martinelli, Diego |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Matsumoto, Shirou |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Mühlhausen, Chris |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | de Baulny, Hélène Ogier |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Ortez, Carlos |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Peña-Quintana, Luis |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Ramadža, Danijela Petković |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Rodrigues, Esmeralda |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Scholl-Bürgi, Sabine |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Sokal, Etienne |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Staufner, Christian |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Summar, Marshall L |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Thompson, Nicholas |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Vara, Roshni |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Pinera, Inmaculada Vives |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Walter, John H |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Williams, Monique |
700 1# - ADDED ENTRY--PERSONAL NAME | |
Personal name | Burgard, Peter |
773 0# - HOST ITEM ENTRY | |
Title | Journal of inherited metabolic disease |
Related parts | vol. 38 |
-- | no. 6 |
-- | p. 1041-57 |
856 40 - ELECTRONIC LOCATION AND ACCESS | |
Uniform Resource Identifier | <a href="https://doi.org/10.1007/s10545-015-9839-3">https://doi.org/10.1007/s10545-015-9839-3</a> |
Public note | Available from publisher's website |
No items available.