A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
about
Mutations in EXTL3 Cause Neuro-immuno-skeletal Dysplasia Syndrome.The levels of urinary glycosaminoglycans of patients with attenuated and severe type of mucopolysaccharidosis II determined by liquid chromatography-tandem mass spectrometry.Biomarkers in Lysosomal Storage DiseasesGlycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.Fast, sensitive method for trisaccharide biomarker detection in mucopolysaccharidosis type 1.GNPTAB c.2404C > T nonsense mutation in a patient with mucolipidosis III alpha/beta: a case report
P2860
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
@ast
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
@en
type
label
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
@ast
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
@en
prefLabel
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
@ast
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
@en
P2093
P2860
P1433
P1476
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses
@en
P2093
Ans T van der Ploeg
Dirk J Lefeber
Esmee Oussoren
Eveline J Langereis
Frits A Wijburg
George J Ruijter
Henk van Lenthe
Naomi van Vlies
Ron A Wevers
Tom Wagemans
P2860
P304
P356
10.1371/JOURNAL.PONE.0138622
P407
P577
2015-09-25T00:00:00Z