Newborn screening for lysosomal storage disorders in hungary.
about
Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS AssayFunctional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry diseaseLentivector Iterations and Pre-Clinical Scale-Up/Toxicity Testing: Targeting Mobilized CD34+ Cells for Correction of Fabry DiseaseInvestigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in BrazilNewborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional ProgramsPompe disease: literature review and case seriesGlucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patientsNewborn screening for lysosomal storage diseasesLevels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometryA systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.Expanded newborn screening by mass spectrometry: New tests, future perspectives.Pathogenesis of Bone Alterations in Gaucher Disease: The Role of Immune System.Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.Newborn Screening for Lysosomal Storage Disorders.Lysosomal Storage Disorders in Egyptian Children.Successful newborn screening for Gaucher disease using fluorometric assay in China.Improvement in the sensitivity of newborn screening for Fabry disease among females through the use of a high-throughput and cost-effective method, DNA mass spectrometry.
P2860
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P2860
Newborn screening for lysosomal storage disorders in hungary.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Newborn screening for lysosomal storage disorders in hungary.
@ast
Newborn screening for lysosomal storage disorders in hungary.
@en
type
label
Newborn screening for lysosomal storage disorders in hungary.
@ast
Newborn screening for lysosomal storage disorders in hungary.
@en
prefLabel
Newborn screening for lysosomal storage disorders in hungary.
@ast
Newborn screening for lysosomal storage disorders in hungary.
@en
P2093
P2860
P356
P1476
Newborn screening for lysosomal storage disorders in hungary
@en
P2093
Adolf Mühl
Arndt Rolfs
Elisa Legnini
Eszter Karg
Gyula Wittmann
Judit Wittmann
Michael Klingenhäger
Olaf Bodamer
Sàndor Turi
P2860
P304
P356
10.1007/8904_2012_130
P577
2012-03-21T00:00:00Z