VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation. Treatment practices of the disorder have changed over the past 10–15years since this disorder was included in newborn screening programs and patients were diagnosed pre-symptomatical...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Evans, Maureen [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2016 |
|---|
| Umfang: |
6 |
|---|
| Übergeordnetes Werk: |
Enthalten in: Measles transmission during a large outbreak in California - Worden, Lee ELSEVIER, 2019, Orlando, Fla |
|---|---|
| Übergeordnetes Werk: |
volume:118 ; year:2016 ; number:4 ; pages:282-287 ; extent:6 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.ymgme.2016.05.012 |
|---|
| Katalog-ID: |
ELV02996086X |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | ELV02996086X | ||
| 003 | DE-627 | ||
| 005 | 20230623203217.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 180603s2016 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.ymgme.2016.05.012 |2 doi | |
| 028 | 5 | 2 | |a GBVA2016018000001.pica |
| 035 | |a (DE-627)ELV02996086X | ||
| 035 | |a (ELSEVIER)S1096-7192(16)30087-7 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 082 | 0 | |a 610 | |
| 082 | 0 | 4 | |a 610 |q DE-600 |
| 082 | 0 | 4 | |a 610 |q VZ |
| 084 | |a 44.75 |2 bkl | ||
| 100 | 1 | |a Evans, Maureen |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria |
| 264 | 1 | |c 2016 | |
| 300 | |a 6 | ||
| 336 | |a nicht spezifiziert |b zzz |2 rdacontent | ||
| 337 | |a nicht spezifiziert |b z |2 rdamedia | ||
| 338 | |a nicht spezifiziert |b zu |2 rdacarrier | ||
| 520 | |a Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation. Treatment practices of the disorder have changed over the past 10–15years since this disorder was included in newborn screening programs and patients were diagnosed pre-symptomatically. A genotype-phenotype correlation has been suggested but the discovery of novel mutations make this knowledge limited. | ||
| 700 | 1 | |a Andresen, Brage S. |4 oth | |
| 700 | 1 | |a Nation, Judy |4 oth | |
| 700 | 1 | |a Boneh, Avihu |4 oth | |
| 773 | 0 | 8 | |i Enthalten in |n Academic Press |a Worden, Lee ELSEVIER |t Measles transmission during a large outbreak in California |d 2019 |g Orlando, Fla |w (DE-627)ELV003843262 |
| 773 | 1 | 8 | |g volume:118 |g year:2016 |g number:4 |g pages:282-287 |g extent:6 |
| 856 | 4 | 0 | |u https://doi.org/10.1016/j.ymgme.2016.05.012 |3 Volltext |
| 912 | |a GBV_USEFLAG_U | ||
| 912 | |a GBV_ELV | ||
| 912 | |a SYSFLAG_U | ||
| 912 | |a SSG-OLC-PHA | ||
| 936 | b | k | |a 44.75 |j Infektionskrankheiten |j parasitäre Krankheiten |x Medizin |q VZ |
| 951 | |a AR | ||
| 952 | |d 118 |j 2016 |e 4 |h 282-287 |g 6 | ||
| 953 | |2 045F |a 610 | ||
| author_variant |
m e me |
|---|---|
| matchkey_str |
evansmaureenandresenbragesnationjudybone:2016----:ladfcecflouaducmoptetdansdhognw |
| hierarchy_sort_str |
2016 |
| bklnumber |
44.75 |
| publishDate |
2016 |
| allfields |
10.1016/j.ymgme.2016.05.012 doi GBVA2016018000001.pica (DE-627)ELV02996086X (ELSEVIER)S1096-7192(16)30087-7 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 44.75 bkl Evans, Maureen verfasserin aut VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria 2016 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation. Treatment practices of the disorder have changed over the past 10–15years since this disorder was included in newborn screening programs and patients were diagnosed pre-symptomatically. A genotype-phenotype correlation has been suggested but the discovery of novel mutations make this knowledge limited. Andresen, Brage S. oth Nation, Judy oth Boneh, Avihu oth Enthalten in Academic Press Worden, Lee ELSEVIER Measles transmission during a large outbreak in California 2019 Orlando, Fla (DE-627)ELV003843262 volume:118 year:2016 number:4 pages:282-287 extent:6 https://doi.org/10.1016/j.ymgme.2016.05.012 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.75 Infektionskrankheiten parasitäre Krankheiten Medizin VZ AR 118 2016 4 282-287 6 045F 610 |
| spelling |
10.1016/j.ymgme.2016.05.012 doi GBVA2016018000001.pica (DE-627)ELV02996086X (ELSEVIER)S1096-7192(16)30087-7 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 44.75 bkl Evans, Maureen verfasserin aut VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria 2016 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation. Treatment practices of the disorder have changed over the past 10–15years since this disorder was included in newborn screening programs and patients were diagnosed pre-symptomatically. A genotype-phenotype correlation has been suggested but the discovery of novel mutations make this knowledge limited. Andresen, Brage S. oth Nation, Judy oth Boneh, Avihu oth Enthalten in Academic Press Worden, Lee ELSEVIER Measles transmission during a large outbreak in California 2019 Orlando, Fla (DE-627)ELV003843262 volume:118 year:2016 number:4 pages:282-287 extent:6 https://doi.org/10.1016/j.ymgme.2016.05.012 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.75 Infektionskrankheiten parasitäre Krankheiten Medizin VZ AR 118 2016 4 282-287 6 045F 610 |
| allfields_unstemmed |
10.1016/j.ymgme.2016.05.012 doi GBVA2016018000001.pica (DE-627)ELV02996086X (ELSEVIER)S1096-7192(16)30087-7 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 44.75 bkl Evans, Maureen verfasserin aut VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria 2016 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation. Treatment practices of the disorder have changed over the past 10–15years since this disorder was included in newborn screening programs and patients were diagnosed pre-symptomatically. A genotype-phenotype correlation has been suggested but the discovery of novel mutations make this knowledge limited. Andresen, Brage S. oth Nation, Judy oth Boneh, Avihu oth Enthalten in Academic Press Worden, Lee ELSEVIER Measles transmission during a large outbreak in California 2019 Orlando, Fla (DE-627)ELV003843262 volume:118 year:2016 number:4 pages:282-287 extent:6 https://doi.org/10.1016/j.ymgme.2016.05.012 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.75 Infektionskrankheiten parasitäre Krankheiten Medizin VZ AR 118 2016 4 282-287 6 045F 610 |
| allfieldsGer |
10.1016/j.ymgme.2016.05.012 doi GBVA2016018000001.pica (DE-627)ELV02996086X (ELSEVIER)S1096-7192(16)30087-7 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 44.75 bkl Evans, Maureen verfasserin aut VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria 2016 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation. Treatment practices of the disorder have changed over the past 10–15years since this disorder was included in newborn screening programs and patients were diagnosed pre-symptomatically. A genotype-phenotype correlation has been suggested but the discovery of novel mutations make this knowledge limited. Andresen, Brage S. oth Nation, Judy oth Boneh, Avihu oth Enthalten in Academic Press Worden, Lee ELSEVIER Measles transmission during a large outbreak in California 2019 Orlando, Fla (DE-627)ELV003843262 volume:118 year:2016 number:4 pages:282-287 extent:6 https://doi.org/10.1016/j.ymgme.2016.05.012 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.75 Infektionskrankheiten parasitäre Krankheiten Medizin VZ AR 118 2016 4 282-287 6 045F 610 |
| allfieldsSound |
10.1016/j.ymgme.2016.05.012 doi GBVA2016018000001.pica (DE-627)ELV02996086X (ELSEVIER)S1096-7192(16)30087-7 DE-627 ger DE-627 rakwb eng 610 610 DE-600 610 VZ 44.75 bkl Evans, Maureen verfasserin aut VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria 2016 6 nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation. Treatment practices of the disorder have changed over the past 10–15years since this disorder was included in newborn screening programs and patients were diagnosed pre-symptomatically. A genotype-phenotype correlation has been suggested but the discovery of novel mutations make this knowledge limited. Andresen, Brage S. oth Nation, Judy oth Boneh, Avihu oth Enthalten in Academic Press Worden, Lee ELSEVIER Measles transmission during a large outbreak in California 2019 Orlando, Fla (DE-627)ELV003843262 volume:118 year:2016 number:4 pages:282-287 extent:6 https://doi.org/10.1016/j.ymgme.2016.05.012 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA 44.75 Infektionskrankheiten parasitäre Krankheiten Medizin VZ AR 118 2016 4 282-287 6 045F 610 |
| language |
English |
| source |
Enthalten in Measles transmission during a large outbreak in California Orlando, Fla volume:118 year:2016 number:4 pages:282-287 extent:6 |
| sourceStr |
Enthalten in Measles transmission during a large outbreak in California Orlando, Fla volume:118 year:2016 number:4 pages:282-287 extent:6 |
| format_phy_str_mv |
Article |
| bklname |
Infektionskrankheiten parasitäre Krankheiten |
| institution |
findex.gbv.de |
| dewey-raw |
610 |
| isfreeaccess_bool |
false |
| container_title |
Measles transmission during a large outbreak in California |
| authorswithroles_txt_mv |
Evans, Maureen @@aut@@ Andresen, Brage S. @@oth@@ Nation, Judy @@oth@@ Boneh, Avihu @@oth@@ |
| publishDateDaySort_date |
2016-01-01T00:00:00Z |
| hierarchy_top_id |
ELV003843262 |
| dewey-sort |
3610 |
| id |
ELV02996086X |
| language_de |
englisch |
| fullrecord |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">ELV02996086X</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230623203217.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">180603s2016 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.ymgme.2016.05.012</subfield><subfield code="2">doi</subfield></datafield><datafield tag="028" ind1="5" ind2="2"><subfield code="a">GBVA2016018000001.pica</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV02996086X</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S1096-7192(16)30087-7</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">610</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">DE-600</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.75</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Evans, Maureen</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2016</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">6</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation. Treatment practices of the disorder have changed over the past 10–15years since this disorder was included in newborn screening programs and patients were diagnosed pre-symptomatically. A genotype-phenotype correlation has been suggested but the discovery of novel mutations make this knowledge limited.</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Andresen, Brage S.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Nation, Judy</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Boneh, Avihu</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="n">Academic Press</subfield><subfield code="a">Worden, Lee ELSEVIER</subfield><subfield code="t">Measles transmission during a large outbreak in California</subfield><subfield code="d">2019</subfield><subfield code="g">Orlando, Fla</subfield><subfield code="w">(DE-627)ELV003843262</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:118</subfield><subfield code="g">year:2016</subfield><subfield code="g">number:4</subfield><subfield code="g">pages:282-287</subfield><subfield code="g">extent:6</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1016/j.ymgme.2016.05.012</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ELV</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-PHA</subfield></datafield><datafield tag="936" ind1="b" ind2="k"><subfield code="a">44.75</subfield><subfield code="j">Infektionskrankheiten</subfield><subfield code="j">parasitäre Krankheiten</subfield><subfield code="x">Medizin</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">118</subfield><subfield code="j">2016</subfield><subfield code="e">4</subfield><subfield code="h">282-287</subfield><subfield code="g">6</subfield></datafield><datafield tag="953" ind1=" " ind2=" "><subfield code="2">045F</subfield><subfield code="a">610</subfield></datafield></record></collection>
|
| author |
Evans, Maureen |
| spellingShingle |
Evans, Maureen ddc 610 bkl 44.75 VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria |
| authorStr |
Evans, Maureen |
| ppnlink_with_tag_str_mv |
@@773@@(DE-627)ELV003843262 |
| format |
electronic Article |
| dewey-ones |
610 - Medicine & health |
| delete_txt_mv |
keep |
| author_role |
aut |
| collection |
elsevier |
| remote_str |
true |
| illustrated |
Not Illustrated |
| topic_title |
610 610 DE-600 610 VZ 44.75 bkl VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria |
| topic |
ddc 610 bkl 44.75 |
| topic_unstemmed |
ddc 610 bkl 44.75 |
| topic_browse |
ddc 610 bkl 44.75 |
| format_facet |
Elektronische Aufsätze Aufsätze Elektronische Ressource |
| format_main_str_mv |
Text Zeitschrift/Artikel |
| carriertype_str_mv |
zu |
| author2_variant |
b s a bs bsa j n jn a b ab |
| hierarchy_parent_title |
Measles transmission during a large outbreak in California |
| hierarchy_parent_id |
ELV003843262 |
| dewey-tens |
610 - Medicine & health |
| hierarchy_top_title |
Measles transmission during a large outbreak in California |
| isfreeaccess_txt |
false |
| familylinks_str_mv |
(DE-627)ELV003843262 |
| title |
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria |
| ctrlnum |
(DE-627)ELV02996086X (ELSEVIER)S1096-7192(16)30087-7 |
| title_full |
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria |
| author_sort |
Evans, Maureen |
| journal |
Measles transmission during a large outbreak in California |
| journalStr |
Measles transmission during a large outbreak in California |
| lang_code |
eng |
| isOA_bool |
false |
| dewey-hundreds |
600 - Technology |
| recordtype |
marc |
| publishDateSort |
2016 |
| contenttype_str_mv |
zzz |
| container_start_page |
282 |
| author_browse |
Evans, Maureen |
| container_volume |
118 |
| physical |
6 |
| class |
610 610 DE-600 610 VZ 44.75 bkl |
| format_se |
Elektronische Aufsätze |
| author-letter |
Evans, Maureen |
| doi_str_mv |
10.1016/j.ymgme.2016.05.012 |
| dewey-full |
610 |
| title_sort |
vlcad deficiency: follow-up and outcome of patients diagnosed through newborn screening in victoria |
| title_auth |
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria |
| abstract |
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation. Treatment practices of the disorder have changed over the past 10–15years since this disorder was included in newborn screening programs and patients were diagnosed pre-symptomatically. A genotype-phenotype correlation has been suggested but the discovery of novel mutations make this knowledge limited. |
| abstractGer |
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation. Treatment practices of the disorder have changed over the past 10–15years since this disorder was included in newborn screening programs and patients were diagnosed pre-symptomatically. A genotype-phenotype correlation has been suggested but the discovery of novel mutations make this knowledge limited. |
| abstract_unstemmed |
Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation. Treatment practices of the disorder have changed over the past 10–15years since this disorder was included in newborn screening programs and patients were diagnosed pre-symptomatically. A genotype-phenotype correlation has been suggested but the discovery of novel mutations make this knowledge limited. |
| collection_details |
GBV_USEFLAG_U GBV_ELV SYSFLAG_U SSG-OLC-PHA |
| container_issue |
4 |
| title_short |
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria |
| url |
https://doi.org/10.1016/j.ymgme.2016.05.012 |
| remote_bool |
true |
| author2 |
Andresen, Brage S. Nation, Judy Boneh, Avihu |
| author2Str |
Andresen, Brage S. Nation, Judy Boneh, Avihu |
| ppnlink |
ELV003843262 |
| mediatype_str_mv |
z |
| isOA_txt |
false |
| hochschulschrift_bool |
false |
| author2_role |
oth oth oth |
| doi_str |
10.1016/j.ymgme.2016.05.012 |
| up_date |
2024-07-06T22:49:54.016Z |
| _version_ |
1803871787698618368 |
| fullrecord_marcxml |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">ELV02996086X</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230623203217.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">180603s2016 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.ymgme.2016.05.012</subfield><subfield code="2">doi</subfield></datafield><datafield tag="028" ind1="5" ind2="2"><subfield code="a">GBVA2016018000001.pica</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV02996086X</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S1096-7192(16)30087-7</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2=" "><subfield code="a">610</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">DE-600</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">610</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">44.75</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Evans, Maureen</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2016</subfield></datafield><datafield tag="300" ind1=" " ind2=" "><subfield code="a">6</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inherited metabolic disorder of fatty acid oxidation. Treatment practices of the disorder have changed over the past 10–15years since this disorder was included in newborn screening programs and patients were diagnosed pre-symptomatically. A genotype-phenotype correlation has been suggested but the discovery of novel mutations make this knowledge limited.</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Andresen, Brage S.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Nation, Judy</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Boneh, Avihu</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="n">Academic Press</subfield><subfield code="a">Worden, Lee ELSEVIER</subfield><subfield code="t">Measles transmission during a large outbreak in California</subfield><subfield code="d">2019</subfield><subfield code="g">Orlando, Fla</subfield><subfield code="w">(DE-627)ELV003843262</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:118</subfield><subfield code="g">year:2016</subfield><subfield code="g">number:4</subfield><subfield code="g">pages:282-287</subfield><subfield code="g">extent:6</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1016/j.ymgme.2016.05.012</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ELV</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SSG-OLC-PHA</subfield></datafield><datafield tag="936" ind1="b" ind2="k"><subfield code="a">44.75</subfield><subfield code="j">Infektionskrankheiten</subfield><subfield code="j">parasitäre Krankheiten</subfield><subfield code="x">Medizin</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">118</subfield><subfield code="j">2016</subfield><subfield code="e">4</subfield><subfield code="h">282-287</subfield><subfield code="g">6</subfield></datafield><datafield tag="953" ind1=" " ind2=" "><subfield code="2">045F</subfield><subfield code="a">610</subfield></datafield></record></collection>
|
| score |
7.400403 |