Late onset form of mucopolysaccharidosis type I: Clinical aspect and biochemical characterization of residual α-l-iduronidase activity

1981 ◽  
Vol 4 (1) ◽  
pp. 171-172 ◽  
Author(s):  
K. Ullrich ◽  
H. Gröbe ◽  
K. von Figura ◽  
J. J. Hopwood ◽  
V. Muller
Keyword(s):  
Biochemical Characterization ◽  
Late Onset ◽  
Clinical Aspect ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I

scholarly journals Characterization of an immunodeficient mouse model of mucopolysaccharidosis type I suitable for preclinical testing of human stem cell and gene therapy

2007 ◽  
Vol 74 (6) ◽  
pp. 429-438 ◽  
Author(s):  
Mayra F. Garcia-Rivera ◽  
Leah E. Colvin-Wanshura ◽  
Matthew S. Nelson ◽  
Zhenhong Nan ◽  
Shaukat A. Khan ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Stem Cell ◽  
Mouse Model ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Human Stem Cell ◽  
Preclinical Testing ◽  
Cell And Gene Therapy

scholarly journals Mutation analysis and clinical characterization of Iranian patients with mucopolysaccharidosis type I

2019 ◽  
Vol 33 (8) ◽  
Author(s):  
Mohammad Taghikhani ◽  
Shohreh Khatami ◽  
Mohammad Abdi ◽  
Mohammad Said Hakhamaneshi ◽  
Mohammad Reza Alaei ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Iranian Patients

scholarly journals Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction

2020 ◽  
Vol 6 (1) ◽  
pp. 2 ◽  
Author(s):  
Patricia L. Hall ◽  
Rossana Sanchez ◽  
Arthur F. Hagar ◽  
S. Caleb Jerris ◽  
Angela Wittenauer ◽  
...  
Keyword(s):  
Newborn Screening ◽  
Pompe Disease ◽  
Late Onset ◽  
Screening Program ◽  
Molecular Testing ◽  
Type I ◽  
Mucopolysaccharidosis Type ◽  
Mucopolysaccharidosis Type I ◽  
Analytical Tools ◽  
Mps I

We conducted a pilot newborn screening (NBS) study for Pompe disease (PD) and mucopolysaccharidosis type I (MPS I) in the multiethnic population of Georgia. We screened 59,332 infants using a two-tier strategy of flow injection tandem mass spectrometry (FIA-MSMS) enzyme assays. The first tier of testing was a 2-plex assay measuring PD and MPS I enzyme activity, followed by a second-tier test with additional enzymes to improve specificity. Interpretation of results was performed using post-analytical tools created using Collaborative Laboratory Integrated Reports (CLIR). We identified a single case of infantile onset PD, two cases of late onset PD, and one pseudodeficiency. The positive predictive value (PPV) for PD screening during the study was 66.7%. No cases of MPS I were identified during the study period, but there were 2 confirmed cases of pseudodeficiency and 6 cases lost to follow up. The two-tier screening strategy was successful in reducing false positive results and allowed for the identification and early treatment of a case of infantile PD but the frequency of pseudodeficiency in MPS I is problematic. Molecular testing is required and should be covered by the screening program to avoid delays in case resolution.

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