Literature DB >> 5534995

Acid maltase deficiency: comparison of infantile, childhood, and adult types.

A G Engel, M E Seybold, E H Lambert, M R Gomez.   

Abstract

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Year:  1970        PMID： 5534995

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


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  6 in total

1.  [Diagnosis and differential diagnosis of lysosomal glycogen storage disease].

Authors:  D Fischer; S Paus; R Schröder
Journal:  Nervenarzt       Date:  2003-10       Impact factor: 1.214

2.  Ten years of the international Pompe survey: patient reported outcomes as a reliable tool for studying treated and untreated children and adults with non-classic Pompe disease.

Authors:  J C van der Meijden; D Güngör; M E Kruijshaar; A D J Muir; H A Broekgaarden; A T van der Ploeg
Journal:  J Inherit Metab Dis       Date:  2014-08-12       Impact factor: 4.982

Review 3.  Consensus treatment recommendations for late-onset Pompe disease.

Authors:  Edward J Cupler; Kenneth I Berger; Robert T Leshner; Gil I Wolfe; Jay J Han; Richard J Barohn; John T Kissel
Journal:  Muscle Nerve       Date:  2011-12-15       Impact factor: 3.217

4.  Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.

Authors:  C F Boerkoel; R Exelbert; C Nicastri; R C Nichols; F W Miller; P H Plotz; N Raben
Journal:  Am J Hum Genet       Date:  1995-04       Impact factor: 11.025

5.  Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.

Authors:  Jousef Alandy-Dy; Marie Wencel; Kathy Hall; Julie Simon; Yanjun Chen; Erik Valenti; Jade Yang; Deeksha Bali; Anita Lakatos; Namita Goyal; Tahseen Mozaffar; Virginia Kimonis
Journal:  Ann Transl Med       Date:  2019-07

6.  Identification a novel mononucleotide deletion mutation in GAA in pompe disease patients.

Authors:  Milad Ebrahimi; Mahdieh Behnam; Nafiseh Behranvand-Jazi; Ladan Yari; Sajad Sheikh-Kanlomilan; Mansoor Salehi; Pardis Tahmasebi; Mohaddeseh Amini; Mohaddeseh Behjati; Nafisehsadat Hosseini
Journal:  J Res Med Sci       Date:  2017-08-16       Impact factor: 1.852
  6 in total

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