Weisiger K - Search Results

1

Periventricular heterotopia associated with chromosome 5p anomalies.

Sheen VL, Wheless JW, Bodell A, Braverman E, Cotter PD, Rauen KA, Glenn O, Weisiger K, Packman S, Walsh CA, Sherr EH. Sheen VL, et al. Among authors: weisiger k. Neurology. 2003 Mar 25;60(6):1033-6. doi: 10.1212/01.wnl.0000052689.03214.61. Neurology. 2003. PMID: 12654978

2

Marinesco-Sjögren syndrome in a male with mild dysmorphism.

Slavotinek A, Goldman J, Weisiger K, Kostiner D, Golabi M, Packman S, Wilcox W, Hoyme HE, Sherr E. Slavotinek A, et al. Among authors: weisiger k. Am J Med Genet A. 2005 Mar 1;133A(2):197-201. doi: 10.1002/ajmg.a.30504. Am J Med Genet A. 2005. PMID: 15633176 Review.

3

Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.

Enns GM, Barkovich AJ, Rosenblatt DS, Fredrick DR, Weisiger K, Ohnstad C, Packman S. Enns GM, et al. Among authors: weisiger k. J Inherit Metab Dis. 1999 Jun;22(5):599-607. doi: 10.1023/a:1005517727451. J Inherit Metab Dis. 1999. PMID: 10399092

4

Executive functioning in children and adolescents with phenylketonuria.

VanZutphen K, Packman W, Sporri L, Needham M, Morgan C, Weisiger K, Packman S. VanZutphen K, et al. Among authors: weisiger k. Clin Genet. 2007 Jul;72(1):13-8. doi: 10.1111/j.1399-0004.2007.00816.x. Clin Genet. 2007. PMID: 17594394

5

Relationship of primary mitochondrial respiratory chain dysfunction to fiber type abnormalities in skeletal muscle.

Enns GM, Hoppel CL, DeArmond SJ, Schelley S, Bass N, Weisiger K, Horoupian D, Packman S. Enns GM, et al. Among authors: weisiger k. Clin Genet. 2005 Oct;68(4):337-48. doi: 10.1111/j.1399-0004.2005.00499.x. Clin Genet. 2005. PMID: 16143021

6

Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders.

Takanashi J, Barkovich AJ, Cheng SF, Weisiger K, Zlatunich CO, Mudge C, Rosenthal P, Tuchman M, Packman S. Takanashi J, et al. Among authors: weisiger k. AJNR Am J Neuroradiol. 2003 Jun-Jul;24(6):1184-7. AJNR Am J Neuroradiol. 2003. PMID: 12812952 Free PMC article.

7

Mitochondrial respiratory chain complex I deficiency with clinical and biochemical features of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

Enns GM, Bennett MJ, Hoppel CL, Goodman SI, Weisiger K, Ohnstad C, Golabi M, Packman S. Enns GM, et al. Among authors: weisiger k. J Pediatr. 2000 Feb;136(2):251-4. doi: 10.1016/s0022-3476(00)70111-9. J Pediatr. 2000. PMID: 10657835

8

Clinical course and biochemistry of sialuria.

Enns GM, Seppala R, Musci TJ, Weisiger K, Ferrell LD, Wenger DA, Gahl WA, Packman S. Enns GM, et al. Among authors: weisiger k. J Inherit Metab Dis. 2001 Jun;24(3):328-36. doi: 10.1023/a:1010588115479. J Inherit Metab Dis. 2001. PMID: 11486897

9

Functional characterization of the novel intronic nucleotide change c.288+9C>T within the BCKDHA gene: understanding a variant presentation of maple syrup urine disease.

Fernández-Guerra P, Navarrete R, Weisiger K, Desviat LR, Packman S, Ugarte M, Rodríguez-Pombo P. Fernández-Guerra P, et al. Among authors: weisiger k. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S191-8. doi: 10.1007/s10545-010-9077-7. Epub 2010 Apr 30. J Inherit Metab Dis. 2010. PMID: 20431954

10

Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male.

Klein OD, Kostiner DR, Weisiger K, Moffatt E, Lindeman N, Goodman S, Tuchman M, Packman S. Klein OD, et al. Among authors: weisiger k. Hepatol Int. 2008 Sep;2(3):390-4. doi: 10.1007/s12072-008-9078-x. Epub 2008 May 7. Hepatol Int. 2008. PMID: 19669271 Free PMC article.

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