Acid maltase deficiency (Type II glycogenosis). Morphological and biochemical study of a childhood phenotype

Journal of the Neurological Sciences

Volumn 30, Issue 1, 1976, Pages 155-166

  Martin, J J ^a   De Barsy, Th ^b   De Schrijver, F ^c   Leroy, J G ^d   Palladini, G ^a  

^a UNIVERSITY OF ANTWERP   (Belgium)

^b UNIVERSITÉ CATHOLIQUE DE LOUVAIN   (Belgium)

^c International Institute of Cellular and Molecular Pathology   (Belgium)

^d UNIVERSITY OF ANTWERP   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCAN 1,4 ALPHA GLUCOSIDASE;

AUTOPSY; CHILD; CHILDHOOD; CYTOLOGY; ENZYME DEFICIENCY; FATALITY; GLYCOGEN STORAGE DISEASE; GLYCOGEN STORAGE DISEASE TYPE 2; HISTOLOGY; MAJOR CLINICAL STUDY; MUSCLE; PHENOTYPE;

EID: 84886618149     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/0022-510X(76)90263-X     Document Type: Article

References (23)

1. L'Analyse Morphologique Quantitative de Fractions Subcellulaires
2. The histochemistry of mucopolysaccharides
3. Biochemical and ultrastructural study of leucocytes in Type II glycogenosis
4. Rodent and human acid alpha-glucosidase — Purification, properties and inhibition by antibodies
5. Adult form of acid maltase deficiency — Biochemical and neuropathological study of two siblings
6. Acid maltase deficiency in adults — Studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies
7. The spectrum and diagnosis of acid maltase deficiency
8. Alpha-glucosidase deficiency in generalized glycogen-storage disease (Pompe's disease)
9. Enzymes of glycogen degradation in biopsy material
10. Glycogen-storage disease: Type II and Type VI glycogenosis
11. Type II glycogenosis (acid maltase deficiency)
12. Glycogen storage diseases
13. A method for the colorimetric estimation of glycogen with iodine
14. Pompe's disease — An inborn lysosomal disorder with storage of glycogen — A study of brain and striated muscle
15. Sur les réactions histochimiques des radicaux acides forts et notamment phosphates
16. Alcian blue — Alcian yellow — A new method for the identification of different acidic groups
17. Histochemical and quantitative analysis of muscle biopsies
18. Studies in myoclonus epilepsy (Lafora body form), Part 2 (Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea)
19. The estimation of glycogen with anthrone reagent
20. Type II glycogenosis — Report of a case with four-year survival and absence of acid maltase associated with an abnormal glycogen
21. Muscular form of glycogenosis, type II (Pompe) — Report of a case with unusual features