Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.
about
Principles and applications of liquid chromatography-mass spectrometry in clinical biochemistryLiquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease.Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).Newborn screening for hunter disease: a small-scale feasibility studyComparative triplex tandem mass spectrometry assays of lysosomal enzyme activities in dried blood spots using fast liquid chromatography: application to newborn screening of Pompe, Fabry, and Hurler diseases.Newborn screening for lysosomal storage diseasesPublic support for neonatal screening for Pompe disease, a broad-phenotype condition.Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis II (Hunter Syndrome).Diagnosis of late-onset Pompe disease and other muscle disorders by next-generation sequencingNewborn screening for lysosomal storage disorders in hungary.Levels of enzyme activities in six lysosomal storage diseases in Japanese neonates determined by liquid chromatography-tandem mass spectrometryDistinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibshipLysosomal storage disorders: molecular basis and laboratory testing.Newborn screening and renal disease: where we have been; where we are now; where we are going.Newborn screening for lysosomal storage diseases: an ethical and policy analysis.Enzymatic and molecular strategies to diagnose Pompe disease.The use of mass spectrometry to analyze dried blood spots.Improved reagents for newborn screening of mucopolysaccharidosis types I, II, and VI by tandem mass spectrometryEffect of temperature on lysosomal enzyme activity during preparation and storage of dried blood spots.Lysosomal storage disorder 4+1 multiplex assay for newborn screening using tandem mass spectrometry: application to a small-scale population study for five lysosomal storage disorders.A tandem mass spectrometry triplex assay for the detection of Fabry, Pompe, and mucopolysaccharidosis-I (Hurler).Multiplex lysosomal enzyme activity assay on dried blood spots using tandem mass spectrometry.Towards a selected reaction monitoring mass spectrometry fingerprint approach for the screening of oligosaccharidoses.Short-incubation mass spectrometry assay for lysosomal storage disorders in newborn and high-risk population screening.A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A).
P2860
Q24653004-6D52F04D-E171-48FD-935F-4FAAA1752960Q33626787-6218EA48-725E-41F0-B342-AD951C601172Q34306229-F89984E2-599A-407B-A288-16E630A71094Q34422346-D4EF9D74-52CC-4206-9AF7-38E440E10026Q35046409-AFC6DED3-AA1F-44B5-AF67-83B029C6CF02Q35134207-D77D8802-D8F9-49FF-B50A-8939FDB4F645Q35956846-B56DA76F-6795-4B53-AC73-917F511EB4A1Q36233470-B535EAFF-F5B3-4DC8-8D5C-660B567EDC3CQ36503498-9AB8FDD1-1260-436A-898E-7C6F9E988145Q36590921-90B95B88-9BEA-45ED-830A-5D8FBFC4E30BQ37231652-3DD7BBF6-1E56-41CB-AB97-AAEE994BA626Q37365514-796623F7-BA07-42E0-BC47-BAB2E27B34E9Q37866896-A9CE1E78-36F3-46B6-A134-B42BABE8EF16Q37938722-18D4BD66-47EB-4982-A6CA-9B6C3DD2590EQ37970587-CE3F0791-0D19-468C-B397-8F90C4BE0ECAQ38089858-2BED4B52-7472-437D-9490-10C2CCE2A1FBQ38253959-2499CF5F-B390-4DCC-B96F-7DE22941BCCFQ39375260-71A82066-42C1-4AA1-B9A9-9AF1BC7CD5CEQ39499484-E4B4AD94-CF39-4669-9555-295EEF248468Q41822844-777D7596-1F97-4C23-BED5-7CEDD4C08DAAQ41826086-02F27D5A-3984-47F5-8052-9480EEF89FDCQ41833595-CE232888-56F8-425F-9CDF-AB5FA5A52EEAQ42090788-ED8E733B-ED0D-4022-A89E-76B033BECF24Q42556621-9857BA79-B191-42EF-9D72-7F370D24338BQ54386825-8CF763BB-1E8A-40BA-8715-93BB928F80EB
P2860
Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Newborn screening for Pompe di ...... sing tandem mass spectrometry.
@en
Newborn screening for Pompe di ...... sing tandem mass spectrometry.
@nl
type
label
Newborn screening for Pompe di ...... sing tandem mass spectrometry.
@en
Newborn screening for Pompe di ...... sing tandem mass spectrometry.
@nl
prefLabel
Newborn screening for Pompe di ...... sing tandem mass spectrometry.
@en
Newborn screening for Pompe di ...... sing tandem mass spectrometry.
@nl
P2093
P1433
P1476
Newborn screening for Pompe di ...... sing tandem mass spectrometry.
@en
P2093
Adolf Mühl
Angéla Dajnoki
György Fekete
Joan Keutzer
Joe Orsini
Olaf A Bodamer
Victor Dejesus
X Kate Zhang
P304
P356
10.1373/CLINCHEM.2008.107722
P407
P577
2008-08-14T00:00:00Z