Literature DB >> 14253576

POMPE'S DISEASE (DIFFUSE GLYCOGENOSIS) WITH NEURONAL STORAGE.

E L MANCALL, G E APONTE, R G BERRY.   

Abstract

Keywords:  CENTRAL NERVOUS SYSTEM DISEASES; CEREBRAL CORTEX; GANGLIA, SPINAL; GLYCOGENOSIS; HEART; HISTOCYTOCHEMISTRY; INFANT; KIDNEY; LIVER; MEDULLA OBLONGATA; MUSCLES; NEUROCHEMISTRY; PATHOLOGY; SPINAL CORD; THORACIC RADIOGRAPHY

Mesh：

Year:  1965        PMID： 14253576     DOI： 10.1097/00005072-196501000-00008

Source DB:  PubMed          Journal:  J Neuropathol Exp Neurol        ISSN： 0022-3069            Impact factor:   3.685


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  32 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

4.  [On the storage of mucopolysaccharide-like substances in the brain in generalized glycogenosis (type II)].

Authors:  R Schnabel
Journal:  Acta Neuropathol       Date:  1965-07-01       Impact factor: 17.088

5.  Pompe's disease: an inborn lysosomal disorder with storage of glycogen. A study of brain and striated muscle.

Authors:  J J Martin; T de Barsy; F van Hoof; G Palladini
Journal:  Acta Neuropathol       Date:  1973-02-19       Impact factor: 17.088

Review 6.  Myotonia--a different point of view.

Authors:  W K Engel
Journal:  Calif Med       Date:  1971-02

7.  [Histochemistry of mucopolysaccharide-like substances (basophilic substances) in skeletal muscle in neuromuscular glycogenosis (type II)].

Authors:  R Schnabel
Journal:  Acta Neuropathol       Date:  1971       Impact factor: 17.088

8.  Evaluation of Readministration of a Recombinant Adeno-Associated Virus Vector Expressing Acid Alpha-Glucosidase in Pompe Disease: Preclinical to Clinical Planning.

Authors:  Manuela Corti; Brian Cleaver; Nathalie Clément; Thomas J Conlon; Kaitlyn J Faris; Gensheng Wang; Janet Benson; Alice F Tarantal; Davis Fuller; Roland W Herzog; Barry J Byrne
Journal:  Hum Gene Ther Clin Dev       Date:  2015-09       Impact factor: 5.032

9.  Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?

Authors:  A Broomfield; J Fletcher; P Hensman; R Wright; H Prunty; J Pavaine; S A Jones
Journal:  JIMD Rep       Date:  2017-07-20

10.  Transcriptome assessment of the Pompe (Gaa-/-) mouse spinal cord indicates widespread neuropathology.

Authors:  S M F Turner; D J Falk; B J Byrne; D D Fuller
Journal:  Physiol Genomics       Date:  2016-09-09       Impact factor: 3.107
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