New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods. (Record no. 11879117)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01287 a2200397 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250514031800.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 200205s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 0009-9147 |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Schuelke, Markus |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20020503 |
| 245 00 - TITLE STATEMENT | |
| Title | New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methods. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Clinical chemistry |
| Date of publication, distribution, etc. | May 2002 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 772-5 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Acidosis, Lactic |
| General subdivision | congenital |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Electron Transport Complex I |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Mitochondria |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | NADH Dehydrogenase |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | NADH, NADPH Oxidoreductases |
| General subdivision | deficiency |
| 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 | Pregnancy |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Prenatal Diagnosis |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Proteins |
| General subdivision | genetics |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Detjen, Anne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | van den Heuvel, Lambert |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Korenke, Christoph |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Janssen, Antoon |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smits, Arie |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Trijbels, Frans |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Smeitink, Jan |
| 773 0# - HOST ITEM ENTRY | |
| Title | Clinical chemistry |
| Related parts | vol. 48 |
| -- | no. 5 |
| -- | p. 772-5 |
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