Newborn Screening for Pompe Disease (Record no. 3008382)

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&amp
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
Holdings
Withdrawn status Lost status Damaged status Not for loan Collection code Home library Current library Date acquired Total Checkouts Date last seen Price effective from Koha item type
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