Literature DB >> 32655140

Response to Heiner-Fokkema et al.

Sarah P Young1, Aleena A Khan1, Stephanie L Austin1, Priya S Kishnani2.   

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Year:  2020        PMID： 32655140     DOI： 10.1038/s41436-020-0879-1

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


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  7 in total

1.  Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.

Authors:  Sarah P Young; Monique Piraud; Jennifer L Goldstein; Haoyue Zhang; Catherine Rehder; Pascal Laforet; Priya S Kishnani; David S Millington; Mustafa R Bashir; Deeksha S Bali
Journal:  Am J Med Genet C Semin Med Genet       Date:  2012-01-17       Impact factor: 3.908

2.  Serum creatine-kinase (CK) and pyruvate-kinase (PK) activities in Duchenne (DMD) as compared with Becker (BMD) muscular dystrophy.

Authors:  M Zatz; D Rapaport; M Vainzof; M R Passos-Bueno; E R Bortolini; R de C Pavanello; C A Peres
Journal:  J Neurol Sci       Date:  1991-04       Impact factor: 3.181

3.  [Microradiographic studies on the bone tissue of dogs with osteoporosis, osteodystrophia fibrosa and osteomalacia].

Authors:  K Dämmrich
Journal:  Zentralbl Veterinarmed A       Date:  1970-05

4.  Glucose tetrasaccharide as a biomarker for monitoring the therapeutic response to enzyme replacement therapy for Pompe disease.

Authors:  Yan An; Sarah P Young; Priya S Kishnani; David S Millington; Andrea Amalfitano; Deyanira Corz; Yuan-Tsong Chen
Journal:  Mol Genet Metab       Date:  2005-08       Impact factor: 4.797

5.  Natural Progression of Canine Glycogen Storage Disease Type IIIa.

Authors:  Elizabeth D Brooks; Haiqing Yi; Stephanie L Austin; Beth L Thurberg; Sarah P Young; John C Fyfe; Priya S Kishnani; Baodong Sun
Journal:  Comp Med       Date:  2016-02       Impact factor: 0.982

6.  Whole-body magnetic resonance imaging in late-onset Pompe disease: Clinical utility and correlation with functional measures.

Authors:  Aleena A Khan; Tracy Boggs; Michael Bowling; Stephanie Austin; Mihaela Stefanescu; Laura Case; Priya S Kishnani
Journal:  J Inherit Metab Dis       Date:  2019-11-26       Impact factor: 4.982

7.  Urine glucose tetrasaccharide: A good biomarker for glycogenoses type II and III? A study of the French cohort.

Authors:  Monique Piraud; Magali Pettazzoni; Marie de Antonio; Christine Vianey-Saban; Roseline Froissart; Brigitte Chabrol; Sarah Young; Pascal Laforêt
Journal:  Mol Genet Metab Rep       Date:  2020-05-01
  7 in total

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