C R Scott
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Explore the profile of C R Scott including associated specialties, affiliations and a list of published articles.
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97
Citations
1356
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Recent Articles
1.
Golden-Grant K, Merritt 2nd J, Scott C
Clin Genet
. 2015 Feb;
88(6):589-92.
PMID: 25677830
Population-based genetic screening has been a mainstay of public health in the United States for many years. The goal of genetic screening is to identify individuals at increased risk for...
2.
Eng C, Fletcher J, Wilcox W, Waldek S, Scott C, Sillence D, et al.
J Inherit Metab Dis
. 2007 Mar;
30(2):184-92.
PMID: 17347915
The Fabry Registry is a global observational research platform established to define outcome data on the natural and treated course of this rare disorder. Participating physicians submit structured longitudinal data...
3.
Jack R, Gordon C, Scott C, Kishnani P, Bali D
Genet Med
. 2006 May;
8(5):307-12.
PMID: 16702881
Purpose: Acid alpha-glucosidase is present in various tissues, including blood cells. Historically, enzyme measurement in cultured fibroblasts, or muscle, has been the gold standard to confirm a diagnosis of Pompe...
4.
Gerber S, Scott C, Turecek F, Gelb M
Anal Chem
. 2001 May;
73(8):1651-7.
PMID: 11338575
We describe a new method for enzyme analysis using affinity capture followed by electrospray ionization mass spectrometry (ACESIMS) for the quantitative determination of the initial velocities of four heparin-modifying enzymes....
5.
Zhou X, Turecek F, Scott C, Gelb M
Clin Chem
. 2001 Apr;
47(5):874-81.
PMID: 11325891
Background: Diagnosis of Niemann-Pick (A and B) and Krabbe diseases is achieved by measurement of the lysosomal enzymes acid sphingomyelinase (ASM) and galactocerebroside beta-galactosidase (GCG), respectively. Conventional assays use radiolabeled...
6.
Tomoeda K, Awata H, Matsuura T, Matsuda I, Ploechl E, Milovac T, et al.
Mol Genet Metab
. 2000 Nov;
71(3):506-10.
PMID: 11073718
The enzyme 4-hydroxyphenylpyruvic acid dioxygenase (HPD) catalyzes the reaction of 4-hydroxyphenylpyruvic acid to homogentisic acid in the tyrosine catabolism pathway. A deficiency in the catalytic activity of HPD may lead...
7.
The Gaucher registry: demographics and disease characteristics of 1698 patients with Gaucher disease
Charrow J, Andersson H, Kaplan P, Kolodny E, Mistry P, Pastores G, et al.
Arch Intern Med
. 2000 Oct;
160(18):2835-43.
PMID: 11025794
Background: The Gaucher Registry, the largest database of patients with Gaucher disease (GD) worldwide, was initiated to better delineate the progressive nature of the disorder and determine optimal therapy. This...
8.
Finn L, Zhang M, Chen S, Scott C
Am J Med Genet
. 2000 Apr;
91(3):222-6.
PMID: 10756347
Severe infantile Gaucher disease associated with ichthyosis and neonatal death is a rare subgroup of Type II Gaucher disease. This group of infants has little, if any, detectable beta-glucocerebrosidase activity,...
9.
Karp B, Ball N, Scott C, Walcoff J
J Am Vet Med Assoc
. 1999 Dec;
215(12):1824-7, 1806.
PMID: 10613216
Two privately owned domestic rabbits (Oryctolagus cuniculus) in Maryland were found to be infected with the raccoon variant of the rabies virus in 1998. Both rabbits had an acute onset...
10.
Charrow J, Esplin J, GRIBBLE T, Kaplan P, Kolodny E, Pastores G, et al.
Arch Intern Med
. 1998 Sep;
158(16):1754-60.
PMID: 9738604
Background: Timely diagnosis and continued monitoring of patients with type I Gaucher disease is critical because skeletal involvement can permanently disable patients and visceral organ involvement can lead to abdominal...