A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia. (Record no. 28150821)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01663 a2200505 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517203734.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201903s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1878-0849 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1016/j.ejmg.2018.03.003 |
| 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 | Akamine, Satoshi |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20190321 |
| 245 00 - TITLE STATEMENT | |
| Title | A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of medical genetics |
| Date of publication, distribution, etc. | Aug 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 451-454 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Case Reports; Journal Article |
| 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 | Amino Acid Metabolism, Inborn Errors |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Brain Diseases |
| 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 | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Methionine |
| General subdivision | urine |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Methylmalonic Acid |
| General subdivision | urine |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Propionates |
| General subdivision | urine |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Protein Serine-Threonine Kinases |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Syndrome |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ishizaki, Yoshito |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sakai, Yasunari |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Torisu, Hiroyuki |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fukai, Ryoko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Miyake, Noriko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ohkubo, Kazuhiro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Koga, Hiroshi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sanefuji, Masafumi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sakata, Ayumi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kimura, Masahiko |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Yamaguchi, Seiji |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sakamoto, Osamu |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hara, Toshiro |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Saitsu, Hirotomo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Matsumoto, Naomichi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ohga, Shouichi |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of medical genetics |
| Related parts | vol. 61 |
| -- | no. 8 |
| -- | p. 451-454 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1016/j.ejmg.2018.03.003">https://doi.org/10.1016/j.ejmg.2018.03.003</a> |
| Public note | Available from publisher's website |
No items available.