Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome. (Record no. 14279128)

MARC details
000 -LEADER
fixed length control field 01494 a2200433 4500
005 - DATE AND TIME OF LATEST TRANSACTION
control field 20250514155623.0
008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION
fixed length control field 200404s 0 0 eng d
022 ## - INTERNATIONAL STANDARD SERIAL NUMBER
International Standard Serial Number 0141-8955
024 7# - OTHER STANDARD IDENTIFIER
Standard number or code 10.1023/a:1025125427868
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 Yano, S
264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE
Date of production, publication, distribution, manufacture, or copyright notice 20040430
245 00 - TITLE STATEMENT
Title Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome.
Medium [electronic resource]
260 ## - PUBLICATION, DISTRIBUTION, ETC.
Name of publisher, distributor, etc. Journal of inherited metabolic disease
Date of publication, distribution, etc. 2003
300 ## - PHYSICAL DESCRIPTION
Extent 481-8 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 Carbon-Carbon Ligases
General subdivision deficiency
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Child, Preschool
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element DNA, Mitochondrial
General subdivision genetics
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 Gene Deletion
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 Methylmalonic Acid
General subdivision urine
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Mitochondrial Diseases
General subdivision genetics
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Phenotype
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Propionic Acidemia
650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM
Topical term or geographic name entry element Syndrome
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Li, L
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Le, T P
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Moseley, K
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Guedalia, A
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Lee, J
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Gonzalez, I
700 1# - ADDED ENTRY--PERSONAL NAME
Personal name Boles, R G
773 0# - HOST ITEM ENTRY
Title Journal of inherited metabolic disease
Related parts vol. 26
-- no. 5
-- p. 481-8
856 40 - ELECTRONIC LOCATION AND ACCESS
Uniform Resource Identifier <a href="https://doi.org/10.1023/a:1025125427868">https://doi.org/10.1023/a:1025125427868</a>
Public note Available from publisher's website

No items available.