ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. (Record no. 21723833)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02489 a2200769 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516090451.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201210s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0006-3002 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.bbadis.2012.04.001 |
| 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 | van Kuilenburg, André B P |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20121015 |
| 245 00 - TITLE STATEMENT | |
| Title | ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Biochimica et biophysica acta |
| Date of publication, distribution, etc. | Jul 2012 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1096-108 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 | 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 | Amino Acid Sequence |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Amino Acid Substitution |
| General subdivision | physiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aminoisobutyric Acids |
| General subdivision | blood |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Animals |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Biocatalysis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Catalytic Domain |
| General subdivision | physiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Central Nervous System Diseases |
| General subdivision | enzymology |
| 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 | Drosophila melanogaster |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Escherichia coli |
| 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 | 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 | Models, Molecular |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Data |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutagenesis, Site-Directed |
| 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 | Point Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Conformation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Interaction Domains and Motifs |
| General subdivision | physiology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Purine-Pyrimidine Metabolism, Inborn Errors |
| General subdivision | enzymology |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pyrimidines |
| General subdivision | metabolism |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Racial Groups |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | beta-Alanine |
| General subdivision | blood |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dobritzsch, Doreen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meijer, Judith |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Krumpel, Michael |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Selim, Laila A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rashed, Mohamed S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Assmann, Birgit |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meinsma, Rutger |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lohkamp, Bernhard |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ito, Tetsuya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Abeling, Nico G G M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saito, Kayoko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Eto, Kaoru |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smitka, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Engvall, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhang, Chunhua |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Xu, Wang |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zoetekouw, Lida |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hennekam, Raoul C M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Biochimica et biophysica acta |
| Related parts | vol. 1822 |
| -- | no. 7 |
| -- | p. 1096-108 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.bbadis.2012.04.001">https://doi.org/10.1016/j.bbadis.2012.04.001</a> |
| Public note | Available from publisher's website |
No items available.