Perry R Loken
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Explore the profile of Perry R Loken including associated specialties, affiliations and a list of published articles.
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5
Citations
100
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Recent Articles
1.
Wegwerth P, White A, Stoway S, Loken P, Oglesbee D, Matern D, et al.
J Inherit Metab Dis
. 2023 Sep;
46(6):1159-1169.
PMID: 37747296
Measurement of plasmalogens is useful for the biochemical diagnosis of rhizomelic chondrodysplasia punctata (RCDP) and is also informative for Zellweger spectrum disorders (ZSD). We have developed a test method for...
2.
Sabharwal A, Wishman M, Cervera R, Serres M, Anderson J, Holmberg S, et al.
Elife
. 2022 Nov;
11.
PMID: 36408801
The clinical and largely unpredictable heterogeneity of phenotypes in patients with mitochondrial disorders demonstrates the ongoing challenges in the understanding of this semi-autonomous organelle in biology and disease. Previously, we...
3.
McGregor T, Hunt K, Yee E, Mason D, Nioi P, Ticau S, et al.
Elife
. 2020 Mar;
9.
PMID: 32207686
By sequencing autozygous human populations, we identified a healthy adult woman with lifelong complete knockout of (expected ~1 in 30 million outbred people). (glycolate oxidase) silencing is the mechanism of...
4.
Turgeon C, Magera M, Cuthbert C, Loken P, Gavrilov D, Tortorelli S, et al.
Clin Chem
. 2010 Sep;
56(11):1686-95.
PMID: 20807894
Background: Newborn screening (NBS) for inborn errors of propionate, methionine, and cobalamin metabolism relies on finding abnormal concentrations of methionine and propionylcarnitine. These analytes are not specific for these conditions...
5.
Loken P, Magera M, Introne W, Tortorelli S, Gavrilov D, Oglesbee D, et al.
Mol Genet Metab
. 2010 Feb;
100(1):103-4.
PMID: 20138792
We report the artifactual elevation of homogentisic acid (HGA) in urine from alkaptonuric patients after replacing the creatinine method (Jaffe reaction) in our laboratory with an automated enzymatic method. Samples...