MARC details
000 -LEADER |
fixed length control field |
03250naaaa2200709uu 4500 |
001 - CONTROL NUMBER |
control field |
https://directory.doabooks.org/handle/20.500.12854/76581 |
005 - DATE AND TIME OF LATEST TRANSACTION |
control field |
20220714185438.0 |
020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
International Standard Book Number |
books978-3-0365-0581-7 |
020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
International Standard Book Number |
9783036505800 |
020 ## - INTERNATIONAL STANDARD BOOK NUMBER |
International Standard Book Number |
9783036505817 |
024 7# - OTHER STANDARD IDENTIFIER |
Standard number or code |
10.3390/books978-3-0365-0581-7 |
Terms of availability |
doi |
041 0# - LANGUAGE CODE |
Language code of text/sound track or separate title |
English |
042 ## - AUTHENTICATION CODE |
Authentication code |
dc |
072 #7 - SUBJECT CATEGORY CODE |
Subject category code |
TB |
Source |
bicssc |
100 1# - MAIN ENTRY--PERSONAL NAME |
Personal name |
Hwu, Wuh-Liang |
Relator code |
edt |
9 (RLIN) |
1608217 |
245 10 - TITLE STATEMENT |
Title |
Newborn Screening for Pompe Disease |
260 ## - PUBLICATION, DISTRIBUTION, ETC. (IMPRINT) |
Place of publication, distribution, etc |
Basel, Switzerland |
Name of publisher, distributor, etc |
MDPI - Multidisciplinary Digital Publishing Institute |
Date of publication, distribution, etc |
2021 |
300 ## - PHYSICAL DESCRIPTION |
Extent |
1 electronic resource (146 p.) |
506 0# - RESTRICTIONS ON ACCESS NOTE |
Terms governing access |
Open Access |
Source of term |
star |
Standardized terminology for access restriction |
Unrestricted online access |
520 ## - SUMMARY, ETC. |
Summary, etc |
Pompe disease, also known as acid maltase deficiency or acid alpha-glucosidase deficiency, in its most severe form results in a rapidly progressive, neonatal-onset skeletal and cardiomyopathy, leading to early infantile death without treatment. The development of treatment with recombinant enzyme replacement therapy radically transformed the clinical trajectory of those affected, enabling long-term ventilator-free survival with resolution of cardiomyopathy. These positive clinical outcomes resulted in the implementation of newborn screening programs for Pompe disease across the world. This Special Issue highlights some of the experiences of Pompe screening programs worldwide and discusses public policy and ethical issues elicited by presymptomatic screening for Pompe disease. |
540 ## - TERMS GOVERNING USE AND REPRODUCTION NOTE |
Terms governing use and reproduction |
Creative Commons |
-- |
https://creativecommons.org/licenses/by/4.0/ |
-- |
cc |
-- |
https://creativecommons.org/licenses/by/4.0/ |
546 ## - LANGUAGE NOTE |
Language note |
English |
650 #7 - SUBJECT ADDED ENTRY--TOPICAL TERM |
Topical term or geographic name as entry element |
Technology: general issues |
Source of heading or term |
bicssc |
9 (RLIN) |
928609 |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
Pompe disease |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
newborn screening |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
diagnosis |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
infantile onset Pompe disease |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
late onset Pompe disease |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
patient perspective |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
n/a |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
California |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
follow-up |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
pseudodeficiency |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
late-onset |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
infantile-onset |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
presymptomatic |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
c.-32-13T& |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
gt |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
G |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
infantile-onset Pompe disease |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
GAA sequencing |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
immune modulation therapy |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
enzyme replacement therapy |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
cross-reactive immunologic material |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
genotype-phenotype correlation |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
treatment and follow-up |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
lysosomal storage diseases |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
variant cut-off |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
next generation sequencing |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
dried blood spots |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
new disorders implementation |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
acid α-glucosidase |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
alpha glucosidase |
653 ## - INDEX TERM--UNCONTROLLED |
Uncontrolled term |
Pompe disease diagnostics testing |
700 1# - ADDED ENTRY--PERSONAL NAME |
Personal name |
Chien, Yin-Hsiu |
Relator code |
edt |
9 (RLIN) |
1608218 |
700 1# - ADDED ENTRY--PERSONAL NAME |
Personal name |
Wang, Raymond |
Relator code |
edt |
9 (RLIN) |
1608219 |
700 1# - ADDED ENTRY--PERSONAL NAME |
Personal name |
Hwu, Wuh-Liang |
Relator code |
oth |
9 (RLIN) |
1608217 |
700 1# - ADDED ENTRY--PERSONAL NAME |
Personal name |
Chien, Yin-Hsiu |
Relator code |
oth |
9 (RLIN) |
1608218 |
700 1# - ADDED ENTRY--PERSONAL NAME |
Personal name |
Wang, Raymond |
Relator code |
oth |
9 (RLIN) |
1608219 |
856 40 - ELECTRONIC LOCATION AND ACCESS |
Host name |
www.oapen.org |
Uniform Resource Identifier |
<a href="https://mdpi.com/books/pdfview/book/4026">https://mdpi.com/books/pdfview/book/4026</a> |
-- |
0 |
Public note |
DOAB: download the publication |
856 40 - ELECTRONIC LOCATION AND ACCESS |
Host name |
www.oapen.org |
Uniform Resource Identifier |
<a href="https://directory.doabooks.org/handle/20.500.12854/76581">https://directory.doabooks.org/handle/20.500.12854/76581</a> |
-- |
0 |
Public note |
DOAB: description of the publication |