Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. (Record no. 20587957)

MARC details
000 -LEADER
fixed length control field 02258 a2200673 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516023508.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201103s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1537-6605
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1016/j.ajhg.2011.01.004
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 Banka, Siddharth
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20110329
245 00 - TITLE STATEMENT
Title Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of human genetics
Date of publication, distribution, etc. Feb 2011
300 ## - PHYSICAL DESCRIPTION
Extent 216-25 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 Amino Acid Metabolism, Inborn Errors
General subdivision drug therapy
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 Anemia, Megaloblastic
General subdivision drug therapy
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Base Sequence
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Biopterins
General subdivision analogs & derivatives
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Brain
General subdivision enzymology
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 Folic Acid
General subdivision cerebrospinal fluid
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Folic Acid Deficiency
General subdivision cerebrospinal fluid
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 Leucovorin
General subdivision therapeutic use
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Magnetic Resonance Imaging
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 Pancytopenia
General subdivision drug therapy
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 Protein Conformation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Sequence Homology, Amino Acid
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Tetrahydrofolate Dehydrogenase
General subdivision chemistry
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Blom, Henk J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Walter, John
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Aziz, Majid
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Urquhart, Jill
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Clouthier, Christopher M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rice, Gillian I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Brouwer, Arjan P M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hilton, Emma
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Vassallo, Grace
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Will, Andrew
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Smith, Desirée E C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Smulders, Yvo M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Wevers, Ron A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Steinfeld, Robert
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Heales, Simon
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Crow, Yanick J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pelletier, Joelle N
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Jones, Simon
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Newman, William G
773 0# - HOST ITEM ENTRY
Title American journal of human genetics
Related parts vol. 88
-- no. 2
-- p. 216-25
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1016/j.ajhg.2011.01.004">https://doi.org/10.1016/j.ajhg.2011.01.004</a>
Public note Available from publisher's website

No items available.