The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots.
about
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
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P2860
The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots.
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
P2093
P1476
The 625G>A SCAD gene variant i ...... nitine in newborn blood spots.
@en
P2093
Wanders RJ
Waterham HR
Wijburg FA
van Maldegem BT
van Woerden CS
van der Vlies M
P2888
P304
P356
10.1007/S10545-005-0557-0
P577
2005-01-01T00:00:00Z