Severe cardiopathy in branching enzyme deficiency

The Journal of Pediatrics

Volumn 111, Issue 1, 1987, Pages 51-56

  Servidei, Serenella ^a,b,c   Riepe, Roger E ^a,b,c   Langston, Claire ^a,b,c   Tani, Lloyd Y ^a,b,c   Bricker, J Timothy ^a,b,c   Crisp Lindgren, Naoma ^a,b,c   Travers, Henry ^a,b,c   Armstrong, Dawna ^a,b,c   DiMauro, Salvatore ^a,b,c  

^a New York Presbyterian Hospital Columbia University Medical Center   (United States)

^b UNIVERSITY OF KANSAS SCHOOL OF MEDICINE WICHITA   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOGEN;

1,4 ALPHA GLUCAN BRANCHING ENZYME DEFICIENCY; BIOPSY; CARDIOMYOPATHY; CONGENITAL DISORDER; CONGESTIVE HEART FAILURE; DIAGNOSIS; HEART; HEART DISEASE; HEART FAILURE; HEART MUSCLE; HUMAN; MUSCLE; PRIORITY JOURNAL; SCHOOL CHILD;

BIOPSY; BRAIN CHEMISTRY; CARDIOMYOPATHY, DILATED; CHILD; CYTOPLASMIC GRANULES; FEMALE; GLYCOGEN; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE IV; HUMANS; LIVER; MUSCLES; MYOCARDIUM; PLEURAL EFFUSION; SKIN;

EID: 0023278638     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(87)80341-4     Document Type: Article

References (23)

1. Debranching and branching enzyme deficiencies
2. Debrancher deficiency: neuromuscular disorder in five adults
3. Myoclonic epilepsy with Lafora bodies
4. Muscle phosphofructokinase deficiency
5. Human muscle phosphoglycerate mutase deficiency: newly discovered metabolic myopathy
6. Type IV glycogenosis: report of a case proven by characterization of glycogen and studied at necropsy
7. Type IV glycogenosis
8. Branching enzyme deficiency glycogensis: studies in therapy
9. Type IV glycogenosis (amylopectinosis)
10. Light and electron microscopy of skeletal muscle in type IV glycogenosis
11. Type IV glycogenosis: a study of two cases
12. Rectal biopsy in type 4 glycogenosis
13. Nervous system involvement in type IV glycogenosis
14. Type IV glycogenosis: patient with absence of a branching enzyme α-1,4-glucan:α-1,4-glucan 6-glucosyl transferase
15. Lack of an α-1,4-glucan:α-1,4-glucan 6-glycosyl transferase in a case of type IV glycogenosis
16. Studies of leukocyte brancher enzyme activity in a family with type IV glycogenesis
17. Type IV glycogen storage disease: branching enzyme deficiency in skin fibroblasts and possible heterozygote detection
18. Type IV glycogen storage disease: light microscopic, electron microscopic, and enzymatic study
19. Glycogen storage disease type IV diagnosed biochemically
20. Studies on glycogen disease with report of a case in which the glycogen was abnormal
21. Glycogenosis IV: a new cause of infantile hypotonia
22. Cardiomyopathy cirrhosis of the liver and deposits of a fibrillar polysaccharide
23. The subgroups of type III glycogenosis