A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts. (Record no. 18576703)

MARC details
000 -LEADER
fixed length control field 01601 a2200481 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250515153651.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200905s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 1573-2665
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1007/s10545-008-0969-8
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 Steinberg, S J
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20090522
245 00 - TITLE STATEMENT
Title A PEX10 defect in a patient with no detectable defect in peroxisome assembly or metabolism in cultured fibroblasts.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of inherited metabolic disease
Date of publication, distribution, etc. Feb 2009
300 ## - PHYSICAL DESCRIPTION
Extent 109-19 p.
Other physical details digital
500 ## - GENERAL NOTE
General note Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
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 Sequence
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 Cells, Cultured
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 Fibroblasts
General subdivision metabolism
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 Molecular Sequence Data
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mutation
General subdivision physiology
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 Peroxins
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Peroxisomes
General subdivision chemistry
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Receptors, Cytoplasmic and Nuclear
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Zellweger Syndrome
General subdivision diagnosis
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Snowden, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Braverman, N E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Chen, L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Watkins, P A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Clayton, P T
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Setchell, K D R
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Heubi, J E
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Raymond, G V
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Moser, A B
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Moser, H W
773 0# - HOST ITEM ENTRY
Title Journal of inherited metabolic disease
Related parts vol. 32
-- no. 1
-- p. 109-19
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1007/s10545-008-0969-8">https://doi.org/10.1007/s10545-008-0969-8</a>
Public note Available from publisher's website

No items available.