Aditi I Dagli
Affiliation: University of Florida
- Pregnancy in glycogen storage disease type Ib: gestational care and report of first successful deliveriesAditi I Dagli
Glycogen Storage Disease Program and Division of Pediatric Endocrinology, University of Florida College of Medicine, PO Box 100296, Gainesville, FL 32610 0296, USA
J Inherit Metab Dis 33:S151-7. 2010..The newborn infant did well after delivery. In addition to the case reports, the challenges of the usage of G-CSF, the treatment of enterocolitis, and comparisons with the management of GSD Ia are discussed...
- Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of dietA I Dagli
Raymond C Philip Research and Education Unit, Division of Genetics, Department of Pediatrics, University of Florida, Gainesville, Florida, USA
J Inherit Metab Dis 32:S103-6. 2009..7 g/m(2) to 78 g/m(2) (normal 50-86 g/m(2)) and the creatine kinase levels decreased from 455 U/L to 282 U/L. Avoidance of overtreatment with carbohydrate and a high-protein diet can reverse and may prevent cardiomyopathy...
- A patient with the syndrome of megalencephaly, mega corpus callosum and complete lack of motor developmentAditi I Dagli
Raymond C Philip Research and Education Unit, Division of Genetics, Department of Pediatrics, University of Florida, Gainesville, Florida 32610, USA
Am J Med Genet A 146:204-7. 2008..The MRI showed generalized, severe enlargement of the corpus callosum and thickening of the cortex. The cause for the MCC syndrome is unknown and both autosomal recessive and spontaneous dominant genetic mechanisms are possibilities...
- Clinical and genetic aspects of Angelman syndromeCharles A Williams
Raymond C Philips Research and Education Unit, Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA
Genet Med 12:385-95. 2010..Chromosome rearrangements may be inherited or de novo. Prenatal testing is possible for certain genetic mechanisms...