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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2003 | 1 |
2005 | 1 |
2008 | 1 |
2010 | 1 |
2018 | 1 |
2019 | 2 |
2024 | 0 |
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6 results
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Page 1
Family Perspectives on Newborn Screening for X-Linked Adrenoleukodystrophy in California.
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.
Cobalamin D Deficiency Identified Through Newborn Screening.
Abu-El-Haija A, Mendelsohn BA, Duncan JL, Moore AT, Glenn OA, Weisiger K, Gallagher RC.
Abu-El-Haija A, et al. Among authors: weisiger k.
JIMD Rep. 2019;44:73-77. doi: 10.1007/8904_2018_126. Epub 2018 Aug 11.
JIMD Rep. 2019.
PMID: 30097992
Free PMC article.
Item in Clipboard
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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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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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.
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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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