Search Results - "Sparagana, S P"

Renal lesion growth in children with tuberous sclerosis complex by Ewalt, D H, Sheffield, E, Sparagana, S P, Delgado, M R, Roach, E S

“…Renal lesions, including angiomyolipoma, renal cysts (simple and polycystic kidney disease) and renal cell carcinoma, develop in patients with tuberous…”
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Felbamate Urolithiasis by Sparagana, S. P., Strand, W. R., Adams, R. C.

“…Purpose: To report a case of felbamate (FBM) urolithiasis. Methods: Urographic imaging [sonography, abdominal computed tomography (CT), intravenous pyelogram,…”
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Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene by Furukawa, Yoshiaki, Guttman, Mark, Sparagana, Steven P., Trugman, Joel M., Hyland, Keith, Wyatt, Philip, Lang, Anthony E., Rouleau, Guy A., Shimadzu, Mitsunobu, Kish, Stephen J.

“…Although it is assumed that most patients with autosomal dominant dopa‐responsive dystonia (DRD) have a GTP cyclohydrolase I dysfunction, conventional genomic…”
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Tuberous sclerosis complex by Sparagana, S P, Roach, E S

“…Tuberous sclerosis complex is an autosomal dominant disorder that causes significant complications in multiple organ systems. Both basic science and clinical…”
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Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa‐responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency by Hyland, K., Nygaard, T. G., Trugman, J. M., Swoboda, K. J., Arnold, L. A., Sparagana, S. P.

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Somatosensory evoked potential monitoring of peripheral nerves during external fixation for limb lengthening and correction of deformity in children by MAKAROV, M. R, SAMCHUKOV, M. L, BIRCH, J. G, CHERKASHIN, A. M, SPARAGANA, S. P, DELGADO, M. R

“…We undertook a retrospective analysis of 306 procedures on 233 patients, with a mean age of 12 years (1 to 21), in order to evaluate the use of somatosensory…”
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Abnormal Sudomotor Function in the Hypomelanotic Macules of Tuberous Sclerosis Complex by Chudnow, Robert S., Wolfe, Gil I., Sparagana, Steven P., Delgado, Mauricio R., Batchelor, Lori, Roach, E. Steve

“…To investigate the integrity of sympathetic innervation in the hypomelanotic macules of tuberous sclerosis complex, we studied sudomotor function in nine…”
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Early diagnosis of subependymal giant cell astrocytoma in patients with tuberous sclerosis by Torres, O A, Roach, E S, Delgado, M R, Sparagana, S P, Sheffield, E, Swift, D, Bruce, D

“…We present 19 patients with tuberous sclerosis complex and subependymal giant cell astrocytoma. The mean age at the time of tumor diagnosis was 9.4 years…”
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The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1 by Kingswood, J Chris, Jozwiak, Sergiusz, Belousova, Elena D, Frost, Michael D, Kuperman, Rachel A, Bebin, E Martina, Korf, Bruce R, Flamini, J Robert, Kohrman, Michael H, Sparagana, Steven P, Wu, Joyce Y, Brechenmacher, Thomas, Stein, Karen, Berkowitz, Noah, Bissler, John J, Franz, David N

“…Tuberous sclerosis complex (TSC) is characterized by benign tumours in multiple organs, including the brain, kidneys, skin, lungs and heart. Our objective was…”
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Genotype/phenotype correlation in 325 individuals referred for a diagnosis of tuberous sclerosis complex in the United States by Au, Kit Sing, Williams, Aimee T, Roach, E Steve, Batchelor, Lori, Sparagana, Steven P, Delgado, Mauricio R, Wheless, James W, Baumgartner, James E, Roa, Benjamin B, Wilson, Carolyn M, Smith-Knuppel, Teresa K, Cheung, Min-Yuen C, Whittemore, Vicky H, King, Terri M, Northrup, Hope

“…Tuberous sclerosis complex is an autosomal dominant neurocutaneous disorder marked by hamartoma growth in multiple organ systems. We performed mutational…”
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Diagnosis of Tuberous Sclerosis Complex by Roach, E. Steve, Sparagana, Steven P.

“…Tuberous sclerosis complex is a dominantly inherited disorder affecting multiple organs; because of its phenotypic variability, the diagnosis of tuberous…”
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Long-term outcome of transcatheter embolization of renal angiomyolipomas due to tuberous sclerosis complex by Ewalt, David H, Diamond, Norman, Rees, Chet, Sparagana, Steven P, Delgado, Mauricio, Batchelor, Lori, Roach, E Steve

“…Complications from renal angiomyolipomas (AMLs) are common in patients with tuberous sclerosis complex (TSC) and tumors greater than 4 cm are more likely to…”
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Microneurosurgery for neonatal brachial plexus palsy: The need for more information by Sparagana, Steven P, Ezaki, Marybeth

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Electroencephalography in holoprosencephaly: findings in children without epilepsy by Hahn, Jin S, Delgado, Mauricio R, Clegg, Nancy J, Sparagana, Steven P, Gerace, Kandy L, Barkovich, A.James, Olson, Donald M

“…Objective: To evaluate the electroencephalographic characteristics of patients with holoprosencephaly (HPE) without epilepsy. Methods: We evaluated the…”
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Seizure remission and antiepileptic drug discontinuation in children with tuberous sclerosis complex by Sparagana, Steven P, Delgado, Mauricio R, Batchelor, Lori L, Roach, E Steve

“…Epilepsy is a common neurologic complication of tuberous sclerosis complex (TSC) and it is often refractory to treatment. Therefore, treating physicians are…”
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Holoprosencephaly: A Review by Clegg, Nancy J., Gerace, Kandy L., Sparagana, Steven P., Hahn, Jin S., Delgado, Mauricio R.

“…Holoprosencephaly (HPE) is a brain malformation characterized by incomplete cleavage of the cerebral hemispheres and deep brain structures. Epilepsy is a…”
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