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Neonatal nephrocalcinosis in association with glucose-galactose malabsorption

✍ Scribed by Amitava Pahari; Peter J. Milla; William G. van't Hoff


Publisher
Springer
Year
2003
Tongue
English
Weight
137 KB
Volume
18
Category
Article
ISSN
0931-041X

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πŸ“œ SIMILAR VOLUMES


Interval breath hydrogen test in glucose
✍ A. C. Douwes; M. Caillie; J. Fernandes; C. M. A. Bijleveld; J. F. Desjeux πŸ“‚ Article πŸ“… 1981 πŸ› Springer 🌐 English βš– 342 KB

A simple test is described for the diagnosis of monosaccharide malabsorption in infancy caused by a congenital defect of glucose and galactose transport. Increased hydrogen (H2) excretion in expired air after ingestion of sugar was used to diagnose this condition in an infant with severe diarrhoea a

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✍ MARTÍN G. MARTÍN; ERIC TURK; CYNTHIA KERNER; BERNARD ZABEL; STEFAN WIRTH; ERNEST πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 399 KB

Glucose-galactose malabsorption (GGM) is an autosomal recessive disorder which presents with severe osmotic diarrhoea shortly after birth. Two proband siblings with GGM were previously demonstrated to contain a missense mutation (D28N) in the Na'-dependent glucose/galactose cotransporter (SGLTI) tha