Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect. (Record no. 11490795)

MARC details
000 -LEADER
fixed length control field 01614 a2200493 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514011314.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200110s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0148-7299
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1002/ajmg.1509
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 Al-Gazali, L I
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20011025
245 00 - TITLE STATEMENT
Title Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. American journal of medical genetics
Date of publication, distribution, etc. Oct 2001
300 ## - PHYSICAL DESCRIPTION
Extent 128-32 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 Amino Acids, Sulfur
General subdivision blood
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Consanguinity
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA Methylation
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Down Syndrome
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Folic Acid
General subdivision metabolism
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Genotype
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 Male
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Methylenetetrahydrofolate Reductase (NADPH2)
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 Neural Tube Defects
General subdivision enzymology
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Oxidoreductases Acting on CH-NH Group Donors
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Polymorphism, Genetic
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Padmanabhan, R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Melnyk, S
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Yi, P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pogribny, I P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Pogribna, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bakir, M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hamid, Z A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Abdulrazzaq, Y
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Dawodu, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name James, S J
773 0# - HOST ITEM ENTRY
Title American journal of medical genetics
Related parts vol. 103
-- no. 2
-- p. 128-32
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1002/ajmg.1509">https://doi.org/10.1002/ajmg.1509</a>
Public note Available from publisher's website

No items available.