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1.
Int J Pediatr ; 2019: 2390240, 2019.
Article in English | MEDLINE | ID: mdl-31467568

ABSTRACT

Breast milk is a complex biological fluid that is rich in nutrients and bioactive agents that support the healthy growth and development of the newborns. Human milk oligosaccharides (HMOs) are unconjugated glycans that constitute an important component of the protection conferred by breast milk on the neonate. HMOs may act locally on the neonatal intestine by acting as signalling molecules and directly interacting with the host cells. Although fucosylated and sialylated HMOs have little nutritional value, they exert important prebiotic as well as immunomodulatory effects on the infant gut. However, there is heterogeneity in the quantity and quality of HMOs in breast milk produced by mothers under influence of the genetic and environmental factors. This review encompasses the salient aspects of HMOs such as composition, function, structural diversity, and functional impact on the growth and survival of newborns. In this review, the current knowledge on HMOs is contextualised to discuss the gaps in scientific understanding and the avenues for future research.

2.
Indian J Hum Genet ; 19(2): 259-61, 2013 Apr.
Article in English | MEDLINE | ID: mdl-24019631

ABSTRACT

Since the aggregate incidence of inborn errors of metabolism is relatively high, a high degree of suspicion is essential to correctly diagnose an inborn error of amino acid metabolism. We report a case of alkaptonuria an autosomal recessive disorder that occurs due to deficiency of homogentisic acid oxidasein a ß-thalassemia infant presenting with reddish discoloration of nappies and clothes, breath holding spells, and microcytic hypochromic anemia. Born to consanguineous cousins, to our knowledge, the combination of ß-thalassemia and alkaptonuria, which we have described in this baby, has not been reported earlier.

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