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Amylo-1,60glucosidase deficiency (glycogenosis type III) in the Faroe Islands.

https://arctichealth.org/en/permalink/ahliterature42841
Source
Hum Hered. 1975;25(2):115-26
Publication Type
Article
Date
1975
Author
J. Cohn
P. Wang
M. Hauge
K. Henningsen
B. Jensen
A. Svejgaard
Source
Hum Hered. 1975;25(2):115-26
Date
1975
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Child
Child, Preschool
Denmark
Erythrocytes - enzymology
Female
Glucosidases - blood
Glycogen Storage Disease - genetics
Glycogen Storage Disease Type III - enzymology - genetics
HLA Antigens
Heterozygote
Histocompatibility
Humans
Leukocytes - enzymology
Male
Pedigree
Abstract
Seven cases of glycogenosis type III (amylo-1,6-glucosidase deficiency) in two probably related families from the Faroe Islands are presented. The group of patients comprised two pairs of sibs. In a total of 78 members of the two families case histories were obtained and clinical examinations, analyses of amylo-1,6-glycosidase activity in erythrocytes and leucocytes, determinations of red cell, serum and enzyme groups as well as HL-A types were performed. In addition, all patients were subjected to studies of liver function. The distribution patients in these families supports the assumption of autosomal recessive inheritance. Heterozygotes could not be diagnosed with certainty by the methods of enzyme activity analysis employed. The incidence of glycogenosis type III with amylo-1,6-glucosidase deficiency was found to be high in the Faroe Islands.
PubMed ID
1056894 View in PubMed
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[Glycogen disease in 4 children from the same family]

https://arctichealth.org/en/permalink/ahliterature43788
Source
Pediatr Akus Ginekol. 1971 Nov-Dec;6:27-8
Publication Type
Article
Author
H I Netovkana
Source
Pediatr Akus Ginekol. 1971 Nov-Dec;6:27-8
Language
Ukrainian
Publication Type
Article
Keywords
Child
Child, Preschool
Female
Glycogen Storage Disease - genetics
Humans
Male
PubMed ID
5292457 View in PubMed
Less detail