Literature DB >> 6576505

Generalized glycogen storage disease in Japanese quail (Coturnix coturnix japonica).

T Matsui, S Kuroda, M Mizutani, Y Kiuchi, K Suzuki, T Ono.   

Abstract

Two Japanese quail which were incapable of wing movement and three normal quail were examined by histological and ultrastructural methods. The diseased birds had glycogen deposits in their skeletal muscle, cardiac muscle, smooth muscle, and nerve cells of the brain and spinal cord. According to the distribution of the lesions and the characteristics of the deposited glycogen, the diseased birds had glycogenosis which was analogous to type II found in man. The usefulness of this disease as a model for glycogenosis in man is discussed.

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Year:  1983        PMID: 6576505     DOI: 10.1177/030098588302000307

Source DB:  PubMed          Journal:  Vet Pathol        ISSN: 0300-9858            Impact factor:   2.221


  14 in total

1.  Spinal delivery of AAV vector restores enzyme activity and increases ventilation in Pompe mice.

Authors:  Kai Qiu; Darin J Falk; Paul J Reier; Barry J Byrne; David D Fuller
Journal:  Mol Ther       Date:  2011-10-18       Impact factor: 11.454

Review 2.  Pompe disease gene therapy.

Authors:  Barry J Byrne; Darin J Falk; Christina A Pacak; Sushrusha Nayak; Roland W Herzog; Melissa E Elder; Shelley W Collins; Thomas J Conlon; Nathalie Clement; Brian D Cleaver; Denise A Cloutier; Stacy L Porvasnik; Saleem Islam; Mai K Elmallah; Anatole Martin; Barbara K Smith; David D Fuller; Lee Ann Lawson; Cathryn S Mah
Journal:  Hum Mol Genet       Date:  2011-04-25       Impact factor: 6.150

Review 3.  An emerging phenotype of central nervous system involvement in Pompe disease: from bench to bedside and beyond.

Authors:  Aditi Korlimarla; Jeong-A Lim; Priya S Kishnani; Baodong Sun
Journal:  Ann Transl Med       Date:  2019-07

Review 4.  The respiratory neuromuscular system in Pompe disease.

Authors:  David D Fuller; Mai K ElMallah; Barbara K Smith; Manuela Corti; Lee Ann Lawson; Darin J Falk; Barry J Byrne
Journal:  Respir Physiol Neurobiol       Date:  2013-06-21       Impact factor: 1.931

Review 5.  Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy.

Authors:  Barry J Byrne; David D Fuller; Barbara K Smith; Nathalie Clement; Kirsten Coleman; Brian Cleaver; Lauren Vaught; Darin J Falk; Angela McCall; Manuela Corti
Journal:  Ann Transl Med       Date:  2019-07

6.  Retrograde gene delivery to hypoglossal motoneurons using adeno-associated virus serotype 9.

Authors:  Mai K ElMallah; Darin J Falk; Michael A Lane; Thomas J Conlon; Kun-Ze Lee; Nadeem I Shafi; Paul J Reier; Barry J Byrne; David D Fuller
Journal:  Hum Gene Ther Methods       Date:  2012-04       Impact factor: 2.396

Review 7.  Myocardial diseases of animals.

Authors:  J F Van Vleet; V J Ferrans
Journal:  Am J Pathol       Date:  1986-07       Impact factor: 4.307

8.  Intrapleural administration of AAV9 improves neural and cardiorespiratory function in Pompe disease.

Authors:  Darin J Falk; Cathryn S Mah; Meghan S Soustek; Kun-Ze Lee; Mai K Elmallah; Denise A Cloutier; David D Fuller; Barry J Byrne
Journal:  Mol Ther       Date:  2013-06-04       Impact factor: 11.454

9.  Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.

Authors:  Mai K ElMallah; Ankit K Desai; Erica B Nading; Stephanie DeArmey; Richard M Kravitz; Priya S Kishnani
Journal:  Pediatr Pulmonol       Date:  2020-01-03

10.  A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.

Authors:  Eija H Seppälä; Arnold J J Reuser; Hannes Lohi
Journal:  PLoS One       Date:  2013-02-14       Impact factor: 3.240

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