Barry Rich to Infant, Newborn
This is a "connection" page, showing publications Barry Rich has written about Infant, Newborn.
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A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia. J Clin Endocrinol Metab. 2002 Jun; 87(6):2556-63.
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Newly proposed hormonal criteria via genotypic proof for type II 3beta-hydroxysteroid dehydrogenase deficiency. J Clin Endocrinol Metab. 2002 Jun; 87(6):2611-22.
Score: 0.009
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Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus. J Pediatr. 1999 Jan; 134(1):42-6.
Score: 0.007
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Bone mineral density assessment in children with inflammatory bowel disease. Gastroenterology. 1998 May; 114(5):902-11.
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Familial nesidioblastosis: severe neonatal hypoglycemia in two families. J Pediatr. 1979 Jul; 95(1):44-53.
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