Packman S - Search Results

1

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: packman s. AJNR Am J Neuroradiol. 2003 Jun-Jul;24(6):1184-7. AJNR Am J Neuroradiol. 2003. PMID: 12812952 Free PMC article.

2

Brain MR imaging in acute hyperammonemic encephalopathy arising from late-onset ornithine transcarbamylase deficiency.

Takanashi J, Barkovich AJ, Cheng SF, Kostiner D, Baker JC, Packman S. Takanashi J, et al. Among authors: packman s. AJNR Am J Neuroradiol. 2003 Mar;24(3):390-3. AJNR Am J Neuroradiol. 2003. PMID: 12637287 Free PMC article.

3

T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease.

Takanashi J, Barkovich AJ, Dillon WP, Sherr EH, Hart KA, Packman S. Takanashi J, et al. Among authors: packman s. AJNR Am J Neuroradiol. 2003 May;24(5):916-21. AJNR Am J Neuroradiol. 2003. PMID: 12748094 Free PMC article.

4

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: packman s. 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.

5

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: packman s. J Inherit Metab Dis. 1999 Jun;22(5):599-607. doi: 10.1023/a:1005517727451. J Inherit Metab Dis. 1999. PMID: 10399092

6

Galactosaemia: early treatment with an elemental formula.

Zlatunich CO, Packman S. Zlatunich CO, et al. Among authors: packman s. J Inherit Metab Dis. 2005;28(2):163-8. doi: 10.1007/s10545-005-5516-2. J Inherit Metab Dis. 2005. PMID: 15877205

7

Trichothiodystrophy: clinical spectrum, central nervous system imaging, and biochemical characterization of two siblings.

Chen E, Cleaver JE, Weber CA, Packman S, Barkovich AJ, Koch TK, Williams ML, Golabi M, Price VH. Chen E, et al. Among authors: packman s. J Invest Dermatol. 1994 Nov;103(5 Suppl):154S-158S. doi: 10.1111/1523-1747.ep12399493. J Invest Dermatol. 1994. PMID: 7963680 Free article.

8

Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.

Caldovic L, Morizono H, Panglao MG, Cheng SF, Packman S, Tuchman M. Caldovic L, et al. Among authors: packman s. Hum Genet. 2003 Apr;112(4):364-8. doi: 10.1007/s00439-003-0909-5. Epub 2003 Feb 20. Hum Genet. 2003. PMID: 12594532

9

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: packman s. 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.

10

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: packman s. J Pediatr. 2000 Feb;136(2):251-4. doi: 10.1016/s0022-3476(00)70111-9. J Pediatr. 2000. PMID: 10657835

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