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Literature DB >> 15402660

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

D H CLEMENT, G C GODMAN.

Abstract

Entities: Chemical

Keywords: CRETINISM; GLYCOGEN; MENTAL DEFICIENCY; MYATONIA

Mesh：

Substances：
Glycogen

Year: 1950 PMID： 15402660 DOI： 10.1016/s0022-3476(50)80174-9

Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406

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Cited

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17 in total

1. NEUROPATHOLOGICAL AND NEUROCHEMICAL ASPECTS OF GENERALIZED GLYCOGEN STORAGE DISEASE.

Authors: L CROME; J N CUMINGS; S DUCKETT
Journal: J Neurol Neurosurg Psychiatry Date: 1963-10 Impact factor: 10.154

2. [Histochemistry of the basophilic substances in skeletal muscles in glycogenosis].

Authors: R SCHNABEL
Journal: Virchows Arch Pathol Anat Physiol Klin Med Date: 1958

3. [Neuromuscular form of glycogen storage disease].

Authors: R SCHNABEL
Journal: Virchows Arch Pathol Anat Physiol Klin Med Date: 1958

4. The amyotonia congenita syndrome.

Authors: J N WALTON
Journal: Proc R Soc Med Date: 1957-05

5. 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 6. 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

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

1. NEUROPATHOLOGICAL AND NEUROCHEMICAL ASPECTS OF GENERALIZED GLYCOGEN STORAGE DISEASE.

2. [Histochemistry of the basophilic substances in skeletal muscles in glycogenosis].

3. [Neuromuscular form of glycogen storage disease].

4. The amyotonia congenita syndrome.

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

Review 6. Pompe disease gene therapy.

7. A MYOPATHY PRESENTING IN ADULT LIFE WITH FEATURES SUGGESTIVE OF GLYCOGEN STORAGE DISEASE.

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

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

10. Generalized glycogenosis type II (Pompe's disease).