Literature DB >> 24590251

Pearls & Oy-sters: clues to the diagnosis of adult-onset acid maltase deficiency.

Tania B Beltran Papsdorf1, James F Howard, Nizar Chahin.   

Abstract

Entities:  

Mesh：

Year:  2014        PMID： 24590251      PMCID： PMC3945654          DOI： 10.1212/WNL.0000000000000163

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  7 in total

Review 1.  The clinical and electrodiagnostic characteristics of Pompe disease with post-enzyme replacement therapy findings.

Authors:  Lisa D Hobson-Webb; Stephanie Dearmey; Priya S Kishnani
Journal:  Clin Neurophysiol       Date:  2011-05-13       Impact factor: 3.708

2.  Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies.

Authors:  A G Engel
Journal:  Brain       Date:  1970       Impact factor: 13.501

3.  Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients.

Authors:  M L C Hagemans; L P F Winkel; P A Van Doorn; W J C Hop; M C B Loonen; A J J Reuser; A T Van der Ploeg
Journal:  Brain       Date:  2005-01-19       Impact factor: 13.501

4.  Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.

Authors:  P Laforêt; M Nicolino; P B Eymard; J P Puech; C Caillaud; L Poenaru; M Fardeau
Journal:  Neurology       Date:  2000-10-24       Impact factor: 9.910

5.  Adult-onset acid maltase deficiency with isolated axial muscle involvement.

Authors:  Bassel Salem; Pariwat Thaisetthawatkul; J Americo Fernandes; Rodney D McComb
Journal:  J Clin Neuromuscul Dis       Date:  2010-09

6.  Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.

Authors:  Wolfgang Müller-Felber; Rita Horvath; Klaus Gempel; Teodor Podskarbi; Yoon Shin; Dieter Pongratz; Maggie C Walter; Martina Baethmann; Beate Schlotter-Weigel; Hanns Lochmüller; Benedikt Schoser
Journal:  Neuromuscul Disord       Date:  2007-07-23       Impact factor: 4.296

7.  Adult acid maltase deficiency.

Authors:  R J Barohn; A L McVey; S DiMauro
Journal:  Muscle Nerve       Date:  1993-06       Impact factor: 3.217
  7 in total
  1 in total

1.  Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.

Authors:  Samya Chakravorty; Babi Ramesh Reddy Nallamilli; Satish Vasant Khadilkar; Madhu Bala Singla; Ashish Bhutada; Rashna Dastur; Pradnya Satish Gaitonde; Laura E Rufibach; Logan Gloster; Madhuri Hegde
Journal:  Front Neurol       Date:  2020-11-05       Impact factor: 4.086
  1 in total

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