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Newborn screening for the full set of mucopolysaccharidoses in dried blood spots based on first-tier enzymatic assay followed by second-tier analysis of glycosaminoglycans

MOLECULAR GENETICS AND METABOLISM (2023)

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Article Endocrinology & Metabolism

Endogenous, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis

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Summary: This study evaluated two methods for measuring GAG biomarkers in different types of MPS and GM1 gangliosidosis. The use of the endogenous NRE biomarker method for second-tier GAG analysis was found to be effective in reducing the false positive rate in NBS.

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Article Pediatrics

First Three Years' Experience of Mucopolysaccharidosis Type-I Newborn Screening in California

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Summary: This study reports on the first 3 years of mucopolysaccharidosis type I (MPS I) newborn screening in California. A 2-tiered approach was used, with enzyme activity assay and DNA sequencing. 7 cases of Hurler syndrome and 2 cases of attenuated MPS I were identified among the screened newborns. Continued long-term follow-up is crucial for understanding the genotype-phenotype relationships of MPS I.

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Article Genetics & Heredity

Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

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Summary: This study reports four affected individuals from two unrelated consanguineous families with MPS-related features, showing additional cardiac and ophthalmological abnormalities in some cases. The detection of mild elevation of a specific GAG in some subjects suggests a novel subtype of mucopolysaccharidosis, which is proposed to be named subtype X.

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Article Genetics & Heredity

Evaluation of Two Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis Type II

Zackary M. Herbst et al.

Summary: This study supports the use of second-tier GAG analysis of newborn DBS, especially the endogenous disaccharide method, as part of NBS to reduce the false positive rate.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2022)

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Article Neurosciences

The future of newborn screening for lysosomal disorders

Melissa P. Wasserstein et al.

Summary: The goal of newborn screening is to detect serious and treatable disorders early to improve patient outcomes. Lysosomal storage disorders (LSDs), a group of over 50 diseases, are being increasingly screened in newborns with the aim of reducing disease morbidity and mortality through early detection using a variety of methods including enzyme replacement therapies and gene therapies.

NEUROSCIENCE LETTERS (2021)

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Article Pediatrics

Newborn Screening for Mucopolysaccharidoses: Results of a Pilot Study with 100 000 Dried Blood Spots

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JOURNAL OF PEDIATRICS (2020)

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Article Genetics & Heredity

Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns

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Article Chemistry, Analytical

Tandem Mass Spectrometry Enzyme Assays for Multiplex Detection of 10-Mucopolysaccharidoses in Dried Blood Spots and Fibroblasts

Hamid Khaledi et al.

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Article Genetics & Heredity

Validation and Implementation of a Highly Sensitive and Efficient Newborn Screening Assay for Mucopolysaccharidosis Type II

Heather Bilyeu et al.

INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)

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Article Genetics & Heredity

Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I

Zackary M. Herbst et al.

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Article Pediatrics

Population-Based Newborn Screening for Mucopolysaccharidosis Type II in Illinois: The First Year Experience

Barbara K. Burton et al.

JOURNAL OF PEDIATRICS (2019)

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Article Endocrinology & Metabolism

Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry

Francyne Kubaski et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2017)

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Article Endocrinology & Metabolism

Glycosaminoglycans detection methods: Applications of mass spectrometry

Francyne Kubaski et al.

MOLECULAR GENETICS AND METABOLISM (2017)

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Article Medical Laboratory Technology

An improved method for glycosaminoglycan analysis by LC-MS/MS of urine samples collected on filter paper

Christiane Auray-Blais et al.

CLINICA CHIMICA ACTA (2012)

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Article Biochemistry & Molecular Biology

Disease-specific non-reducing end carbohydrate biomarkers for mucopolysaccharidoses

Roger Lawrence et al.

NATURE CHEMICAL BIOLOGY (2012)

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Article Endocrinology & Metabolism

Keratan sulphate levels in mucopolysaccharidoses and mucolipidoses

S Tomatsu et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2005)

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