Glycogen storage disease type Ib: familial bleeding tendency

Autor:	K. Heyne, D. Hosenfeld, Jürgen Schaub, W. Grote
Rok vydání:	1984
Předmět:	Adult Male congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Adolescent Platelet dysfunction Glucose-6-Phosphate Glycogen Storage Disease Type I chemistry.chemical_compound Internal medicine Glycogen Storage Disease Type Ib Von Willebrand disease Medicine Humans Child Glycoproteins Glycoprotein synthesis business.industry Glucosephosphates nutritional and metabolic diseases Heterozygote advantage Blood Coagulation Disorders Middle Aged medicine.disease Pedigree von Willebrand Diseases Endocrinology Glucose 6-phosphate chemistry Pediatrics Perinatology and Child Health Female business
Zdroj:	European journal of pediatrics. 143(1)
ISSN:	0340-6199
Popis:	A mild bleeding tendency with characteristics of the von Willebrand disease was documented in family members of a girl with glycogen storage disease type Ib (GSD) Ib). It was assumed that a defective glucose-6-phosphate dependent microsomal glycoprotein synthesis was involved in the bleeding disorder of the patient and the GSD Ib heterozygotes.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99a2ec33bab47c104102abee749258cc https://pubmed.ncbi.nlm.nih.gov/6334607 Zobrazit plný text záznamu Full text from SpringerLink