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A 3 1/2 years old male child born by consanguineous marriage presented with white forelock and symmetric hypopigmented areas present since birth, similar to his mother and elder sister. Hepatomegaly was noticed at one year of age. Liver biopsy revealed enlarged pale hepatocytes distended with glycogen. Skin biopsy revealed absence of melanin pigment in white depigmented skin. G727T gene splice mutation...
To determine the biochemical integrity of refrigerated breast milk for 96 hours at 4°C, a longitudinal observational study done with fresh milk samples. It is found that there were significant changes in pH, serum albumin and lactose concentrations in breast milk though within normal range.
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