Literature DB >> 29162672

Introduction to the Newborn Screening, Diagnosis, and Treatment for Pompe Disease Guidance Supplement.

Priya S Kishnani1, Wuh-Liang Hwu2.   

Abstract

Mesh:

Year:  2017        PMID: 29162672     DOI: 10.1542/peds.2016-0280B

Source DB:  PubMed          Journal:  Pediatrics        ISSN: 0031-4005            Impact factor:   7.124


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  4 in total

1.  Atypical infantile-onset Pompe disease with good prognosis from mainland China: A case report.

Authors:  Ying Zhang; Cheng Zhang; Jian-Bo Shu; Fang Zhang
Journal:  World J Clin Cases       Date:  2022-04-06       Impact factor: 1.534

2.  Phenotypic implications of pathogenic variant types in Pompe disease.

Authors:  Manuel A Viamonte; Stephanie L Filipp; Zara Zaidi; Matthew J Gurka; Barry J Byrne; Peter B Kang
Journal:  J Hum Genet       Date:  2021-05-11       Impact factor: 3.172

3.  GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Authors:  Arnold J J Reuser; Ans T van der Ploeg; Yin-Hsiu Chien; Juan Llerena; Mary-Alice Abbott; Paula R Clemens; Virginia E Kimonis; Nancy Leslie; Sonia S Maruti; Bernd-Jan Sanson; Roberto Araujo; Magali Periquet; Antonio Toscano; Priya S Kishnani
Journal:  Hum Mutat       Date:  2019-08-07       Impact factor: 4.878

4.  At-Risk Testing for Pompe Disease Using Dried Blood Spots: Lessons Learned for Newborn Screening.

Authors:  Zoltan Lukacs; Petra Oliva; Paulina Nieves Cobos; Jacob Scott; Thomas P Mechtler; David C Kasper
Journal:  Int J Neonatal Screen       Date:  2020-12-21
  4 in total

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