Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay

Diagnosing mucopolysaccharidosis IVA

(2013) Timothy C. Wood et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Identification of Infants at Risk for Developing Fabry, Pompe, or Mucopolysaccharidosis-I from Newborn Blood Spots by Tandem Mass Spectrometry

(2013) C. Ronald Scott et al.   JOURNAL OF PEDIATRICS

Simultaneous determination of multiple phthalate metabolites and bisphenol-A in human urine by liquid chromatography–tandem mass spectrometry

(2012) Mei Chen et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

The Structure of Human GALNS Reveals the Molecular Basis for Mucopolysaccharidosis IV A

(2012) Yadilette Rivera-Colón et al.   JOURNAL OF MOLECULAR BIOLOGY

Practical and reliable enzyme test for the detection of Mucopolysaccharidosis IVA (Morquio Syndrome type A) in dried blood samples

(2011) Marli V. Camelier et al.   CLINICA CHIMICA ACTA

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders — Current status and perspectives

(2011) Arnold J. Reuser et al.   MOLECULAR GENETICS AND METABOLISM

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots:Application to Screening Newborns for Mucopolysaccharidosis IVA

(2010) T. Khaliq et al.   CLINICAL CHEMISTRY

Reference values for lysosomal enzymes activities using dried blood spots samples - a Brazilian experience

(2010) Karen B Müller et al.   Diagnostic Pathology

Simultaneous determination of 11 phytoestrogens in human serum using a 2min liquid chromatography/tandem mass spectrometry method

(2010) Jeevan K. Prasain et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

Mucopolysaccharidosis IVA mutations in Chinese patients: 16 novel mutations

(2010) Zheng Wang et al.   JOURNAL OF HUMAN GENETICS

Simultaneous characterization and quantitation of 11 coumarins in Radix Angelicae Dahuricae by high performance liquid chromatography with electrospray tandem mass spectrometry

(2009) Xuguang Zheng et al.   JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS

Multiplex Enzyme Assay Screening of Dried Blood Spots for Lysosomal Storage Disorders by Using Tandem Mass Spectrometry

(2008) X. K. Zhang et al.   CLINICAL CHEMISTRY