Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. (Record no. 20361723)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02112 a2200589 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516012244.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201105s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2010.171 |
| 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 | Kleefstra, Tjitske |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20110504 |
| 245 00 - TITLE STATEMENT | |
| Title | Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Feb 2011 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 138-44 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 | Abnormalities, Multiple |
| General subdivision | genetics |
| 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 | Barth Syndrome |
| General subdivision | genetics |
| 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 | Craniofacial Abnormalities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA, Mitochondrial |
| General subdivision | genetics |
| 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 | Heart Defects, Congenital |
| General subdivision | genetics |
| 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 | LEOPARD Syndrome |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | MAP Kinase Signaling System |
| General subdivision | genetics |
| 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 | Mitochondrial Encephalomyopathies |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Multiple Acyl Coenzyme A Dehydrogenase Deficiency |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mutation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Tyrosine Phosphatase, Non-Receptor Type 11 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proto-Oncogene Proteins p21(ras) |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Skin Abnormalities |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | ras Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wortmann, Saskia B |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rodenburg, Richard J T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bongers, Ernie M H F |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hadzsiev, Kinga |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Noordam, Cees |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van den Heuvel, Lambert P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nillesen, Willy M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hollody, Katalin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gillessen-Kaesbach, Gabrielle |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lammens, Martin |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smeitink, Jan A M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van der Burgt, Ineke |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morava, Eva |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 19 |
| -- | no. 2 |
| -- | p. 138-44 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2010.171">https://doi.org/10.1038/ejhg.2010.171</a> |
| Public note | Available from publisher's website |
No items available.