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Year | Number of Results |
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2003 | 1 |
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2019 | 2 |
2024 | 0 |
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Page 1
Cobalamin D Deficiency Identified Through Newborn Screening.
JIMD Rep. 2019;44:73-77. doi: 10.1007/8904_2018_126. Epub 2018 Aug 11.
JIMD Rep. 2019.
PMID: 30097992
Free PMC article.
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.
Item in Clipboard
Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California.
Schwan K, Youngblom J, Weisiger K, Kianmahd J, Waggoner R, Fanos J.
Schwan K, et al. Among authors: weisiger k.
Int J Neonatal Screen. 2019 Nov 13;5(4):42. doi: 10.3390/ijns5040042. eCollection 2019 Dec.
Int J Neonatal Screen. 2019.
PMID: 33073000
Free PMC article.
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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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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.
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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
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