The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots.

The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots.

Item
http://www.wikidata.org/entity/Q46497942
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiencyVulnerability to oxidative stress in vitro in pathophysiology of mitochondrial short-chain acyl-CoA dehydrogenase deficiency: response to antioxidantsFollow-up of patients with short-chain acyl-CoA dehydrogenase and isobutyryl-CoA dehydrogenase deficiencies identified through newborn screening: one center’s experienceNeuropsychological outcomes in fatty acid oxidation disorders: 85 cases detected by newborn screeningClinical aspects of short-chain acyl-CoA dehydrogenase deficiency.Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptomsShort-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).The fungus Ustilago maydis and humans share disease-related proteins that are not found in Saccharomyces cerevisiae.An unusually high frequency of SCAD deficiency caused by two pathogenic variants in the ACADS gene and its relationship to the ethnic structure in Slovakia.
P2860

The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots.

Item
http://www.wikidata.org/entity/Q46497942
description
2005 nî lūn-bûn
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2005年の論文
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年學術文章
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2005年學術文章
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name
The 625G>A SCAD gene variant i ...... nitine in newborn blood spots.
@en
The 625G>A SCAD gene variant i ...... nitine in newborn blood spots.
@nl
type
label
The 625G>A SCAD gene variant i ...... nitine in newborn blood spots.
@en
The 625G>A SCAD gene variant i ...... nitine in newborn blood spots.
@nl
prefLabel
The 625G>A SCAD gene variant i ...... nitine in newborn blood spots.
@en
The 625G>A SCAD gene variant i ...... nitine in newborn blood spots.
@nl
P1433
P1476
P2093
P2888
P304
P31
P356
P433
P478
P577
P5875
P698
P356
P1433
P1476
The 625G>A SCAD gene variant i ...... nitine in newborn blood spots.
@en
P2093
P2888
P304
P31
P356
P433
P478
P577
P5875
P698