Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype. (Record no. 22906795)

MARC details
000 -LEADER
fixed length control field 01543 a2200469 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250516160722.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 201503s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1750-1172
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1186/1750-1172-8-103
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 Anjema, Karen
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20150330
245 00 - TITLE STATEMENT
Title Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Orphanet journal of rare diseases
Date of publication, distribution, etc. Jul 2013
300 ## - PHYSICAL DESCRIPTION
Extent 103 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
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 Adult
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 Child
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 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 Male
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 Phenylketonurias
General subdivision drug therapy
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Young Adult
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Rijn, Margreet
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hofstede, Floris C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Bosch, Annet M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Hollak, Carla E M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Rubio-Gozalbo, Estela
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name de Vries, Maaike C
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Janssen, Mirian C H
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boelen, Carolien C A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Burgerhof, Johannes G M
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Blau, Nenad
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Heiner-Fokkema, M Rebecca
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name van Spronsen, Francjan J
773 0# - HOST ITEM ENTRY
Title Orphanet journal of rare diseases
Related parts vol. 8
-- p. 103
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1186/1750-1172-8-103">https://doi.org/10.1186/1750-1172-8-103</a>
Public note Available from publisher's website

No items available.