About: Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

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About: Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening Goto Sponge NotDistinct Permalink

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scientific article published on 20 July 2006

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique publié en 2006 (fr) наукова стаття, опублікована у вересні 2006 (uk) im Juli 2006 veröffentlichter wissenschaftlicher Artikel (de) scientific article published on 20 July 2006 (en) artículu científicu espublizáu en xunetu de 2006 (ast)
publication date	wds:Q61763854-8E264BBF-E11F-4973-9FFF-830B2954178B
publication date	2006-07-20 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q61763854-B3612E3E-3687-4A4B-AC9A-1F256EDF26EE
language of work or name	English
exact match	wds:Q61763854-9FDDB608-327F-4F88-A3A0-8D6DE28E63CC
exact match	https://scigraph.springernature.com/pub.10.1203/01.pdr.0000233085.72522.04
author name string	wds:Q61763854-1BF264A9-E29B-48A8-A8F1-EBB4993AA9AA wds:Q61763854-202539A7-19FA-4BE1-B4EA-19BA68050C32 wds:Q61763854-315744F5-C486-4D7F-AF7C-4913C0DCFF84 wds:Q61763854-3AC5328F-3C4D-48EA-B6D5-E29D6A7AEEE5 wds:Q61763854-4592C77F-A630-4DDB-942E-D90723779DD5 wds:Q61763854-50F93780-4A89-4E61-BEE6-5E61C2A217BD wds:Q61763854-574F225A-2756-423B-90B6-04F65A1450B3 wds:Q61763854-6CE2E2B0-FC7C-4929-8DBE-F6DBEEEE7E88 wds:Q61763854-7C4E3D43-8430-430A-87CD-608869546680 wds:Q61763854-D0CC1948-3CFD-4D14-87E9-EFE974042A86 wds:Q61763854-DAD7B5E9-B338-4B32-934B-F9F1180ABEE9 wds:Q61763854-F4AE1F6F-2BC9-4914-90D4-1E0824E64F8A wds:Q61763854-F60F58AF-C28B-4501-9687-4585FB5424EB
author name string	Jos P N Ruiter Niels Gregersen Ernst Christensen Christina B Pedersen Charles R Roe Dwight D Koeberl Sarah P Young David S Millington Henrik Simonsen Claus Bischoff Inga Knudsen Diane S Roe Laura D Keppen
rdfs:label	Variations in IBD (nl) Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening (en)
skos:prefLabel	Variations in IBD (nl) Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening (en)
name	Variations in IBD (nl) Variations in IBD (ACAD8) in Children with Elevated C4-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening (en)
author	wds:Q61763854-4C2AB903-1804-47BE-8689-39A867158AF6 wds:Q61763854-D340CE26-2E71-4B74-9B9C-F08473B14737 wds:Q61763854-E6908822-3294-4AA0-9429-18F27F56D15E wds:Q61763854-F23F48C6-713D-4FC4-A1FB-C361F603A02E
author	Brage Storstein Andresen Ronald J A Wanders Allan M Lund Quinn Stein
title	wds:Q61763854-3A3EBA48-D3CD-4A9D-98B5-C301136EC5D2
title	Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening (en)
page(s)	wds:Q61763854-EC981BC9-43F2-4E7C-8478-943315E90397
page(s)	315-320
instance of	wds:Q61763854-9B5896F4-7343-4B87-A6B7-5C00BBFE8758
instance of	scholarly article
PubMed ID	wds:Q61763854-463B19E8-F417-40E6-A619-B61E4ACAB3B2
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/16857760
PubMed ID	16857760
published in	wds:Q61763854-D48E8512-B99C-48D1-9BB4-6F2E4EF21AC5
published in	Pediatric Research
issue	wds:Q61763854-B75864D5-D97D-47CD-93DF-17DE6099C088
volume	wds:Q61763854-081FABA2-00CA-4C87-84AF-611F7F72A750
issue	3
volume	60
DOI	wds:Q61763854-497975F4-2937-44FA-A810-284FD316434C
DOI	http://dx.doi.org/10.1203/01.PDR.0000233085.72522.04
DOI	10.1203/01.PDR.0000233085.72522.04
Dimensions Publication ID	wds:Q61763854-7F20BB6A-D369-4610-BF0A-F271C06C69FC
Dimensions Publication ID	1025136954
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q61763854
is cites work of	The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level Recent advances in newborn screening Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening. Metabolic heritability at birth: implications for chronic disease research Enzymology of the branched-chain amino acid oxidation disorders: the valine pathway Follow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experience Long-term outcome of isobutyryl-CoA dehydrogenase deficiency diagnosed following an episode of ketotic hypoglycaemia Expanded newborn screening for inborn errors of metabolism: overview and outcomes. Increased excretion of c4-carnitine species after a therapeutic acetylsalicylic Acid dose: evidence for an inhibitory effect on short-chain Fatty Acid metabolism
is cites work of	wds:Q28282635-00C0D567-75D2-4315-8B7B-9DE0C4E84F72 wds:Q35644084-9007B84A-CC30-4002-9EF1-AC2C43987C04 wds:Q35428738-5561B4AD-A450-4D0D-97DF-876EEAC3FF6A wds:Q43970662-4A183FEC-387C-4BA6-8B35-8BFC7A7A6D8F wds:Q29037124-B58C14C0-512F-4878-A18F-76930BD26B65 wds:Q33916772-72D15933-3D1A-4F2A-BB5C-DB9FB63D9EC2 wds:Q38025784-E3327555-677D-40F5-9041-B0AE0B63B843 wds:Q36753404-B255ACAE-75C8-413B-88F6-E8ED56F6BB55 wds:Q37543805-90DF2116-114A-4874-B568-88E35642CC75 wds:Q44528675-C7D7C0EC-199C-4295-87BE-C1FC67F4A664

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