Literature DB >> 4511788

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

J J Martin, T de Barsy, F van Hoof, G Palladini.   

Abstract

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Year:  1973        PMID： 4511788     DOI： 10.1007/bf00687878

Source DB:  PubMed          Journal:  Acta Neuropathol        ISSN： 0001-6322            Impact factor:   17.088


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  48 in total

1.  AN ELECTRON MICROSCOPIC AND BIOCHEMICAL STUDY OF TYPE II GLYCOGENOSIS.

Authors:  P BAUDHUIN; H G HERS; H LOEB
Journal:  Lab Invest       Date:  1964-09       Impact factor: 5.662

2.  [STUDY OF 2 CASES OF GENERALIZED GLYCOGENOSIS WITH CARDIOMEGALY (POMPE'S DISEASE)].

Authors:  H LOEB; J SMULDERS; E VANTHIEL; D BARAN; R VANGEFFEL
Journal:  Rev Belg Pathol Med Exp       Date:  1964-08

3.  [CARDIO-MUSCULAR GLYCOGENOSIS. STUDY OF 2 CASES].

Authors:  M GAUTIER; R HABIB; E BARGETON; J NOUAILLE
Journal:  Sem Hop       Date:  1964-04-08

Review 4.  INBORN LYSOSOMAL DISEASES.

Authors:  H G HERS
Journal:  Gastroenterology       Date:  1965-05       Impact factor: 22.682

5.  Glycogen disease resembling mongolism, cretinism, and amytonia congenita; case report and review of literature.

Authors:  D H CLEMENT; G C GODMAN
Journal:  J Pediatr       Date:  1950-01       Impact factor: 4.406

6.  [Histochemical studies on myoclonus bodies in progressive myoclonus epilepsy (Unverricht type)].

Authors:  R Schnabel; F Seitelberger
Journal:  Acta Neuropathol       Date:  1969-09-09       Impact factor: 17.088

7.  [Interaction of proteins in staining with Alcian dyes].

Authors:  G Palladini; G Lauro
Journal:  Ric Sci       Date:  1968-06

8.  [Ultrastructural study of a muscle biopsy in a type II glycogenosis].

Authors:  R Escourolle; B Berger; J Poirier
Journal:  Pathol Eur       Date:  1967

9.  A histochemical and electron microscopic study of skeletal muscle in a case of Pompe's disease (glycogenosis II).

Authors:  R D Cardiff
Journal:  Pediatrics       Date:  1966-02       Impact factor: 7.124

10.  Improvements in epoxy resin embedding methods.

Authors:  J H LUFT
Journal:  J Biophys Biochem Cytol       Date:  1961-02
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  43 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.  Muscle glycogenoses: an overview.

Authors:  S Di Mauro
Journal:  Acta Myol       Date:  2007-07

Review 3.  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 4.  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

5.  I-cell disease (mucolipidosis II):a report on its pathology.

Authors:  J J Martin; J G Leroy; J P Farriaux; G Fontaine; R J Desnick; A Cabello
Journal:  Acta Neuropathol       Date:  1975-12-30       Impact factor: 17.088

6.  Ocular ultrastructural study in a fetus with type II glycogenosis.

Authors:  J Libert; J J Martin; C Ceuterick; P Danis
Journal:  Br J Ophthalmol       Date:  1977-07       Impact factor: 4.638

7.  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

8.  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

9.  Unusual familial cardiomyopathy with storage of intermediate filaments in the cardiac muscular cells.

Authors:  A Porte; M E Stoeckel; A Sacrez; A Batzenschlager
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1980

10.  Safety of Intradiaphragmatic Delivery of Adeno-Associated Virus-Mediated Alpha-Glucosidase (rAAV1-CMV-hGAA) Gene Therapy in Children Affected by Pompe Disease.

Authors:  Manuela Corti; Cristina Liberati; Barbara K Smith; Lee Ann Lawson; Ibrahim S Tuna; Thomas J Conlon; Kirsten E Coleman; Saleem Islam; Roland W Herzog; David D Fuller; Shelley W Collins; Barry J Byrne
Journal:  Hum Gene Ther Clin Dev       Date:  2017-12       Impact factor: 5.032
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