Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose

Autor:	D G Keir, V C Worthington, Faiqa Imtiaz, E Schollen, M J Henderson, Christian J. Hendriksz, Patricia McClean, Gert Matthijs, B G Winchester
Rok vydání:	2001
Předmět:	medicine.medical_specialty Pancreatic disease Short Report Administration Oral Mannose chemistry.chemical_compound Congenital Disorders of Glycosylation Fibrosis Internal medicine medicine Humans Electrophoresis Agar Gel chemistry.chemical_classification Mannose-6-Phosphate Isomerase business.industry Homozygote Protein losing enteropathy Transferrin Infant medicine.disease Endocrinology chemistry Mutation Pediatrics Perinatology and Child Health Failure to thrive Congenital hepatic fibrosis Female medicine.symptom Glycoprotein business
Zdroj:	Archives of Disease in Childhood. 85:339-340
ISSN:	0003-9888
DOI:	10.1136/adc.85.4.339
Popis:	An Asian girl presented with failure to thrive, congenital hepatic fibrosis, protein losing enteropathy, and hypoglycaemia. Phosphomannose isomerase activity in skin fibroblasts was reduced. She is homozygous for a mutation, D131N, in the phosphomannose isomerase gene (PM1), consistent with the diagnosis of carbohydrate deficient glycoprotein syndrome type 1b. She responded to oral mannose treatment.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8867ea499f0304de9435558f13cf5a62 https://doi.org/10.1136/adc.85.4.339 Zobrazit plný text záznamu