Newborn screening and diagnosis of mucopolysaccharidoses
about
Sanfilippo syndrome: causes, consequences, and treatmentsTherapies for the bone in mucopolysaccharidosesMutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptomsHematopoietic stem cell transplantation for Morquio A syndrome.A selective screening program for the early detection of mucopolysaccharidosis: Results of the FIND project - a 2-year follow-up study.Glycosaminoglycans detection methods: Applications of mass spectrometry.Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional ProgramsImpact of Enzyme Replacement Therapy and Hematopoietic Stem Cell Therapy on Growth in Patients with Hunter Syndrome.Assay for Glycosaminoglycans by Tandem Mass Spectrometry and its Applications.Novel heparan sulfate assay by using automated high-throughput mass spectrometry: Application to monitoring and screening for mucopolysaccharidoses.Establishment of glycosaminoglycan assays for mucopolysaccharidosesMolecular testing of 163 patients with Morquio A (Mucopolysaccharidosis IVA) identifies 39 novel GALNS mutationsChondroitin 6-Sulfate as a Novel Biomarker for Mucopolysaccharidosis IVA and VII.Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: early treatment rescues bone lesions?Newborn screening and diagnosis of mucopolysaccharidoses: application of tandem mass spectrometry.Activities of daily living in patients with Hunter syndrome: impact of enzyme replacement therapy and hematopoietic stem cell transplantation.Molecular Genetics and Metabolism Report Long-term follow-up of post hematopoietic stem cell transplantation for Hurler syndrome: clinical, biochemical, and pathological improvements.Newborn screening for lysosomal storage diseasesImpact of enzyme replacement therapy and hematopoietic stem cell transplantation in patients with Morquio A syndrome.Di-sulfated Keratan Sulfate as a Novel Biomarker for Mucopolysaccharidosis II, IVA, and IVB.Enzyme replacement therapy for treating mucopolysaccharidosis type IVA (Morquio A syndrome): effect and limitations.Activity of daily living for Morquio A syndrome.Mucopolysaccharidosis IVA and glycosaminoglycans.Lysosomal diseases: diagnostic update.Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.Bio-Plex immunoassay measuring the quantity of lysosomal N-acetylgalactosamine-6-sulfatase protein in dried blood spots for the screening of mucopolysaccharidosis IVA in newborn: a pilot study.Tandem mass spectroscopy in diagnosis and clinical research.Diagnosing Mucopolysaccharidosis type IV a by the fluorometric assay of N-Acetylgalactosamine-6-sulfate sulfatase activity.Biomarkers in Lysosomal Storage DiseasesPresentation and Treatments for Mucopolysaccharidosis Type II (MPS II; Hunter Syndrome).Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry.Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study.Cytogenetic biomonitoring in mucopolyssacharosis I, II and IV patients treated with enzyme replacement therapy.Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.
P2860
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P2860
Newborn screening and diagnosis of mucopolysaccharidoses
description
2013 nî lūn-bûn
@nan
2013 թուականին հրատարակուած գիտական յօդուած
@hyw
2013 թվականին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Newborn screening and diagnosis of mucopolysaccharidoses
@ast
Newborn screening and diagnosis of mucopolysaccharidoses
@en
Newborn screening and diagnosis of mucopolysaccharidoses
@nl
type
label
Newborn screening and diagnosis of mucopolysaccharidoses
@ast
Newborn screening and diagnosis of mucopolysaccharidoses
@en
Newborn screening and diagnosis of mucopolysaccharidoses
@nl
prefLabel
Newborn screening and diagnosis of mucopolysaccharidoses
@ast
Newborn screening and diagnosis of mucopolysaccharidoses
@en
Newborn screening and diagnosis of mucopolysaccharidoses
@nl
P2093
P2860
P1476
Newborn screening and diagnosis of mucopolysaccharidoses
@en
P2093
Adriana M. Montaño
Hideyuki Futatsumori
Kazuhiro Kida
Masaru Fukushi
Miho Maeda
Robert W. Mason
Seiji Yamaguchi
Shunji Tomatsu
Tadao Orii
Tadashi Fujii
P2860
P356
10.1016/J.YMGME.2013.06.007
P407
P577
2013-01-01T00:00:00Z