Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
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New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.Identification and Verification of Potential Therapeutic Target Genes in Berberine-Treated Zucker Diabetic Fatty Rats through Bioinformatics AnalysisBiallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases.Aminoacidopathies: Prevalence, Etiology, Screening, and Treatment Options.
P2860
Difficulties in recognition of pyruvate dehydrogenase complex deficiency on the basis of clinical and biochemical features. The role of next-generation sequencing.
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Difficulties in recognition of ...... of next-generation sequencing.
@en
type
label
Difficulties in recognition of ...... of next-generation sequencing.
@en
prefLabel
Difficulties in recognition of ...... of next-generation sequencing.
@en
P2093
P2860
P50
P1476
Difficulties in recognition of ...... of next-generation sequencing
@en
P2093
M Dudzińska
M Pajdowska
T Szymańska-Dębińska
P2860
P356
10.1016/J.YMGMR.2016.03.004
P50
P577
2016-04-18T00:00:00Z