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Prevalence of adenylosuccinate lyase deficiency based on aggregated exome dataNovel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelinesClassification and adaptive behavior prediction of children with autism spectrum disorder based upon multivariate data analysis of markers of oxidative stress and DNA methylation.Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.Ketogenic diets in patients with inherited metabolic disorders.A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.Inborn Errors of Metabolism and Epilepsy: Current Understanding, Diagnosis, and Treatment Approaches.Fumarase Deficiency Causes Protein and Metabolite Succination and Intoxicates Mycobacterium tuberculosis.Self-domestication in Homo sapiens: Insights from comparative genomics.Global metabolomic profiling of uterine leiomyomas.Metabolomic "Dark Matter" Dependent on Peroxisomal β-Oxidation in Caenorhabditis elegans.Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.Novel and de novo mutations in pediatric refractory epilepsyMetabolomic profiling of human lung tumor tissues - nucleotide metabolism as a candidate for therapeutic interventions and biomarkers
P2860
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P2860
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
2014年论文
@zh
2014年论文
@zh-cn
name
Adenylosuccinate lyase deficiency.
@ast
Adenylosuccinate lyase deficiency.
@en
Adenylosuccinate lyase deficiency.
@nl
type
label
Adenylosuccinate lyase deficiency.
@ast
Adenylosuccinate lyase deficiency.
@en
Adenylosuccinate lyase deficiency.
@nl
prefLabel
Adenylosuccinate lyase deficiency.
@ast
Adenylosuccinate lyase deficiency.
@en
Adenylosuccinate lyase deficiency.
@nl
P2860
P1476
Adenylosuccinate lyase deficiency
@en
P2093
Agnieszka Jurecka
Stanislav Kmoch
P2860
P2888
P304
P356
10.1007/S10545-014-9755-Y
P577
2014-08-12T00:00:00Z
P5875
P6179
1018023013