Literature DB >> 27939258

Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.

Lorne A Clarke1, Andrea M Atherton2, Barbara K Burton3, Debra L Day-Salvatore4, Paige Kaplan5, Nancy D Leslie6, C Ronald Scott7, David W Stockton8, Janet A Thomas9, Joseph Muenzer10.   

Abstract

Entities:  

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Year:  2016        PMID： 27939258     DOI： 10.1016/j.jpeds.2016.11.036

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  18 in total

1.  A Novel Frameshift Mutation Associated with Hurler's Syndrome: A Case Report.

Authors:  Mana Kamranjam; Seyedeh Maryam Hosseini; Mohammadreza Alaei
Journal:  J Pediatr Genet       Date:  2019-04-03

Review 2.  Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments.

Authors:  Kazuki Sawamoto; Molly Stapleton; Carlos J Alméciga-Díaz; Angela J Espejo-Mojica; Juan Camilo Losada; Diego A Suarez; Shunji Tomatsu
Journal:  Drugs       Date:  2019-07       Impact factor: 11.431

Review 3.  Emerging Approaches for Fluorescence-Based Newborn Screening of Mucopolysaccharidoses.

Authors:  Rajendra Singh; Shaileja Chopra; Carrie Graham; Melissa Langer; Rainer Ng; Anirudh J Ullal; Vamsee K Pamula
Journal:  Diagnostics (Basel)       Date:  2020-05-11

Review 4.  Enzyme replacement therapy: efficacy and limitations.

Authors:  Daniela Concolino; Federica Deodato; Rossella Parini
Journal:  Ital J Pediatr       Date:  2018-11-16       Impact factor: 2.638

5.  Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.

Authors:  Anna Tylki-Szymańska; Linda De Meirleir; Maja Di Rocco; Waseem M Fathalla; Nathalie Guffon; Christina Lampe; Allan M Lund; Rossella Parini; Frits A Wijburg; Jiri Zeman; Maurizio Scarpa
Journal:  Acta Paediatr       Date:  2018-08       Impact factor: 2.299

6.  Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.

Authors:  Lorne A Clarke; Roberto Giugliani; Nathalie Guffon; Simon A Jones; Hillary A Keenan; Maria V Munoz-Rojas; Torayuki Okuyama; David Viskochil; Chester B Whitley; Frits A Wijburg; Joseph Muenzer
Journal:  Clin Genet       Date:  2019-07-02       Impact factor: 4.438

7.  Enzyme activities of α-glucosidase in Japanese neonates with pseudodeficiency alleles.

Authors:  Ryuichi Mashima; Torayuki Okuyama
Journal:  Mol Genet Metab Rep       Date:  2017-07-07

8.  Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome.

Authors:  Elsa G Shapiro; Chester B Whitley; Julie B Eisengart
Journal:  Orphanet J Rare Dis       Date:  2018-05-11       Impact factor: 4.123

Review 9.  Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology.

Authors:  Christiane S Hampe; Julie B Eisengart; Troy C Lund; Paul J Orchard; Monika Swietlicka; Jacob Wesley; R Scott McIvor
Journal:  Cells       Date:  2020-08-05       Impact factor: 6.600

Review 10.  Mucopolysaccharidosis Type I.

Authors:  Francyne Kubaski; Fabiano de Oliveira Poswar; Kristiane Michelin-Tirelli; Ursula da Silveira Matte; Dafne D Horovitz; Anneliese Lopes Barth; Guilherme Baldo; Filippo Vairo; Roberto Giugliani
Journal:  Diagnostics (Basel)       Date:  2020-03-16
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