Mild fumarase deficiency and a trial of low protein diet. (Record no. 21789997)

MARC details
000 -LEADER
fixed length control field 01412 a2200445 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516092808.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201301s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1096-7206
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ymgme.2012.04.010
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 Kimonis, V E
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20130129
245 00 - TITLE STATEMENT
Title Mild fumarase deficiency and a trial of low protein diet.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Molecular genetics and metabolism
Date of publication, distribution, etc. Sep 2012
300 ## - PHYSICAL DESCRIPTION
Extent 241-2 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 Blood Chemical Analysis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Brain
General subdivision pathology
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 Diet, Protein-Restricted
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Electroencephalography
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 Fumarate Hydratase
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 Metabolism, Inborn Errors
General subdivision diagnosis
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Muscle Hypotonia
General subdivision diagnosis
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 Neuroimaging
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Psychomotor Disorders
General subdivision diagnosis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Steller, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Sahai, I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Grange, D K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shoemaker, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Zelaya, B M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Mandell, R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shih, K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Shih, V
773 0# - HOST ITEM ENTRY
Title Molecular genetics and metabolism
Related parts vol. 107
-- no. 1-2
-- p. 241-2
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ymgme.2012.04.010">https://doi.org/10.1016/j.ymgme.2012.04.010</a>
Public note Available from publisher's website

No items available.