Newborn Screening for Pompe Disease
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 re...
Saved in:
| HerausgeberIn: | |
|---|---|
| Sonstige: | |
| Year of Publication: | 2021 |
| Language: | English |
| Physical Description: | 1 electronic resource (146 p.) |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| id |
993545751904498 |
|---|---|
| ctrlnum |
(CKB)5400000000042885 (oapen)https://directory.doabooks.org/handle/20.500.12854/76581 (EXLCZ)995400000000042885 |
| collection |
bib_alma |
| record_format |
marc |
| spelling |
Hwu, Wuh-Liang edt Newborn Screening for Pompe Disease Basel, Switzerland MDPI - Multidisciplinary Digital Publishing Institute 2021 1 electronic resource (146 p.) text txt rdacontent computer c rdamedia online resource cr rdacarrier 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. English Technology: general issues bicssc Pompe disease newborn screening diagnosis infantile onset Pompe disease late onset Pompe disease patient perspective California follow-up pseudodeficiency late-onset infantile-onset presymptomatic c.-32-13T& gt G infantile-onset Pompe disease GAA sequencing immune modulation therapy enzyme replacement therapy cross-reactive immunologic material genotype-phenotype correlation treatment and follow-up lysosomal storage diseases variant cut-off next generation sequencing dried blood spots new disorders implementation acid α-glucosidase alpha glucosidase Pompe disease diagnostics testing 3-0365-0580-6 3-0365-0581-4 Chien, Yin-Hsiu edt Wang, Raymond edt Hwu, Wuh-Liang oth Chien, Yin-Hsiu oth Wang, Raymond oth |
| language |
English |
| format |
eBook |
| author2 |
Chien, Yin-Hsiu Wang, Raymond Hwu, Wuh-Liang Chien, Yin-Hsiu Wang, Raymond |
| author_facet |
Chien, Yin-Hsiu Wang, Raymond Hwu, Wuh-Liang Chien, Yin-Hsiu Wang, Raymond |
| author2_variant |
w l h wlh y h c yhc r w rw |
| author2_role |
HerausgeberIn HerausgeberIn Sonstige Sonstige Sonstige |
| title |
Newborn Screening for Pompe Disease |
| spellingShingle |
Newborn Screening for Pompe Disease |
| title_full |
Newborn Screening for Pompe Disease |
| title_fullStr |
Newborn Screening for Pompe Disease |
| title_full_unstemmed |
Newborn Screening for Pompe Disease |
| title_auth |
Newborn Screening for Pompe Disease |
| title_new |
Newborn Screening for Pompe Disease |
| title_sort |
newborn screening for pompe disease |
| publisher |
MDPI - Multidisciplinary Digital Publishing Institute |
| publishDate |
2021 |
| physical |
1 electronic resource (146 p.) |
| isbn |
3-0365-0580-6 3-0365-0581-4 |
| illustrated |
Not Illustrated |
| work_keys_str_mv |
AT hwuwuhliang newbornscreeningforpompedisease AT chienyinhsiu newbornscreeningforpompedisease AT wangraymond newbornscreeningforpompedisease |
| status_str |
n |
| ids_txt_mv |
(CKB)5400000000042885 (oapen)https://directory.doabooks.org/handle/20.500.12854/76581 (EXLCZ)995400000000042885 |
| carrierType_str_mv |
cr |
| is_hierarchy_title |
Newborn Screening for Pompe Disease |
| author2_original_writing_str_mv |
noLinkedField noLinkedField noLinkedField noLinkedField noLinkedField |
| _version_ |
1796652236264177665 |
| fullrecord |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>02909nam-a2200697z--4500</leader><controlfield tag="001">993545751904498</controlfield><controlfield tag="005">20231214133023.0</controlfield><controlfield tag="006">m o d </controlfield><controlfield tag="007">cr|mn|---annan</controlfield><controlfield tag="008">202201s2021 xx |||||o ||| 0|eng d</controlfield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(CKB)5400000000042885</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(oapen)https://directory.doabooks.org/handle/20.500.12854/76581</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(EXLCZ)995400000000042885</subfield></datafield><datafield tag="041" ind1="0" ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Hwu, Wuh-Liang</subfield><subfield code="4">edt</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Newborn Screening for Pompe Disease</subfield></datafield><datafield tag="260" ind1=" " ind2=" "><subfield code="a">Basel, Switzerland</subfield><subfield code="b">MDPI - Multidisciplinary Digital Publishing Institute</subfield><subfield code="c">2021</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">1 electronic resource (146 p.)</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">computer</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">online resource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">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.</subfield></datafield><datafield tag="546" ind1=" " ind2=" "><subfield code="a">English</subfield></datafield><datafield tag="650" ind1=" " ind2="7"><subfield code="a">Technology: general issues</subfield><subfield code="2">bicssc</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">Pompe disease</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">newborn screening</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">diagnosis</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">infantile onset Pompe disease</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">late onset Pompe disease</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">patient perspective</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">California</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">follow-up</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">pseudodeficiency</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">late-onset</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">infantile-onset</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">presymptomatic</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">c.-32-13T&amp</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">gt</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">G</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">infantile-onset Pompe disease</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">GAA sequencing</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">immune modulation therapy</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">enzyme replacement therapy</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">cross-reactive immunologic material</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">genotype-phenotype correlation</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">treatment and follow-up</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">lysosomal storage diseases</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">variant cut-off</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">next generation sequencing</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">dried blood spots</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">new disorders implementation</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">acid α-glucosidase</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">alpha glucosidase</subfield></datafield><datafield tag="653" ind1=" " ind2=" "><subfield code="a">Pompe disease diagnostics testing</subfield></datafield><datafield tag="776" ind1=" " ind2=" "><subfield code="z">3-0365-0580-6</subfield></datafield><datafield tag="776" ind1=" " ind2=" "><subfield code="z">3-0365-0581-4</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Chien, Yin-Hsiu</subfield><subfield code="4">edt</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Wang, Raymond</subfield><subfield code="4">edt</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Hwu, Wuh-Liang</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Chien, Yin-Hsiu</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Wang, Raymond</subfield><subfield code="4">oth</subfield></datafield><datafield tag="906" ind1=" " ind2=" "><subfield code="a">BOOK</subfield></datafield><datafield tag="ADM" ind1=" " ind2=" "><subfield code="b">2023-12-15 05:39:40 Europe/Vienna</subfield><subfield code="f">system</subfield><subfield code="c">marc21</subfield><subfield code="a">2022-04-04 09:22:53 Europe/Vienna</subfield><subfield code="g">false</subfield></datafield><datafield tag="AVE" ind1=" " ind2=" "><subfield code="i">DOAB Directory of Open Access Books</subfield><subfield code="P">DOAB Directory of Open Access Books</subfield><subfield code="x">https://eu02.alma.exlibrisgroup.com/view/uresolver/43ACC_OEAW/openurl?u.ignore_date_coverage=true&portfolio_pid=5338028130004498&Force_direct=true</subfield><subfield code="Z">5338028130004498</subfield><subfield code="b">Available</subfield><subfield code="8">5338028130004498</subfield></datafield></record></collection> |