Newborn screening in mucopolysaccharidoses

Existing Reviews

Please note, new claims can take a short while to show up.

No claims yet.

Annotation Summary

Term Occurence Count Dictionary
neuronal ceroid lipofuscinosis 1 endocrinologydiseases
Fabry disease 6 endocrinologydiseases
Krabbe disease 3 endocrinologydiseases
Niemann-Pick disease 3 endocrinologydiseases
lysosomal storage disease 2 endocrinologydiseases
mucopolysaccharidosis 2 endocrinologydiseases

There are not enough annotations found in this document to create the proximity graph.

Review

Having read the paper, please pick a pair of statements from the paper to indicate that a drug and disease are related.

Select Drug Character Offset Drug Term Instance
Select Disease Character Offset Disease Term Instance
Fabry disease 6398 activities [[14]–[16]]. The robustness of the MS/MS method for multiplex assay of alpha-galactosidase ( Fabry disease ), acid-alpha-glucosidase (Pompe disease), and IDUA (MPS I) has been evaluated on anonymous newborn DBS
Fabry disease 10341 study using a multiplexing digital microfluidic fluorimetric enzymatic assay to detect Pompe disease, Fabry disease , Gaucher disease, and MPS I started in 2013 [[33], [34]]. In the first 6 months of the Missouri LSD
Fabry disease 11308 [[35]]. MS/MS was used to assay for the five LSD-associated enzymes to detect MPS I, Pompe disease, Fabry disease , Gaucher disease, and Niemann-Pick disease type A/B in DBS specimens obtained from 219,973 newborn samples
Fabry disease 12448 their families [[36]]. A multiplex MS/MS enzymatic assay for six LSDs, including MPS I, Pompe disease, Fabry disease , Gaucher disease, Niemann-Pick disease type A/B, and Krabbe disease, was performed. This is the first
Fabry disease 12715 through an NBS program. The authors report the final distributions included 11 Pompe disease, five Fabry disease , two MPS I, and two Niemann-Pick disease type A/B. An interesting finding emerged for the MPS I reports:
Fabry disease 13942 in the Tuscany and Umbria Regions of Italy, a pilot project for NBS by LC-MS/MS for Pompe disease, Fabry disease , and MPS I diseases has been conducted [[38]]. The enzymatic analysis was carried out on the same DBS
Krabbe disease 6822 substrate/internal standard reaction mix for the six-plex assay (Pompe, MPS I, Fabry, Gaucher, Niemann Pick A/B, and Krabbe disease ) [[18]]. Recently a study for the identification of newborns at risk of developing Pompe, MPS I, Fabry,
Krabbe disease 6972 identification of newborns at risk of developing Pompe, MPS I, Fabry, Gaucher, Niemann Pick A/B, and Krabbe disease has been performed in the Washington state NBS laboratory [[19]].Numerous studies have contributed to
Krabbe disease 12515 including MPS I, Pompe disease, Fabry disease, Gaucher disease, Niemann-Pick disease type A/B, and Krabbe disease , was performed. This is the first multiplex Latin-American study of six LSDs detected through an NBS
Niemann-Pick disease 11344 the five LSD-associated enzymes to detect MPS I, Pompe disease, Fabry disease, Gaucher disease, and Niemann-Pick disease type A/B in DBS specimens obtained from 219,973 newborn samples sent to the Newborn Screening Laboratory
Niemann-Pick disease 12480 MS/MS enzymatic assay for six LSDs, including MPS I, Pompe disease, Fabry disease, Gaucher disease, Niemann-Pick disease type A/B, and Krabbe disease, was performed. This is the first multiplex Latin-American study of six
Niemann-Pick disease 12749 authors report the final distributions included 11 Pompe disease, five Fabry disease, two MPS I, and two Niemann-Pick disease type A/B. An interesting finding emerged for the MPS I reports: two patients were found to be compound
lysosomal storage disease 16681 analysis of positive mucopolysaccharide type I (MPS I) newborns in Tuscany and Umbria Regions, Italy by lysosomal storage disease (LSD) screeningPatient no.GenderEthnic originCountryNBS enzyme activity, triplex (N.V. > 3.74 μmol/L/h)NBS
lysosomal storage disease 19628 mutational analysis of newborns with mucopolysaccharide type I (MPS I) deficiency in northeast Italy by lysosomal storage disease (LSD) screeningPatient no.SexEthnic originCountryEnzyme activity screeningGenecDNA variationProtein
mucopolysaccharidosis 504 a clear evidence that early intervention significantly improves the outcome. It is recommended that mucopolysaccharidosis type I (MPS I) is included in the US newborn screening panel, and this is currently underway in some
mucopolysaccharidosis 28758 algorithm (Fig. 1) that is in agreement with what has been recently published [[38]].Fig. 1Algorithm for mucopolysaccharidosis type I (MPS I)-positive newborn screening, modified from [[38]]. DBS dried blood spots, ERT enzyme replacement
neuronal ceroid lipofuscinosis 8860 for enzymes responsible for the mucopolysaccharidoses I, II, IIIB, IVA, VI, and VII and for type 2 neuronal ceroid lipofuscinosis (LICL) [[27]].Recently, DBS-based assays measuring GAGs have been developed and proposed for use in

You must be authorized to submit a review.