C Ronald Scott
Overview
Explore the profile of C Ronald Scott including associated specialties, affiliations and a list of published articles.
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Articles
81
Citations
3014
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Recent Articles
1.
Hong X, Daiker J, Sadilek M, Ruiz-Schultz N, Kumar A, Norcross S, et al.
Genet Med
. 2020 Nov;
23(3):555-561.
PMID: 33214709
Purpose: Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder caused by the deficiency of arylsulfatase A (ARSA), which results in the accumulation of sulfatides. Newborn screening for MLD may be...
2.
Chinsky J, Ficicioglu C, Scott C
Genet Med
. 2019 Oct;
22(2):439-440.
PMID: 31570801
No abstract available.
3.
Jack R, Scott C
JIMD Rep
. 2019 Jun;
46(1):75-78.
PMID: 31240158
The drug nitisinone (NTBC; Orfadin, Vienna, Austria) has been used for the treatment of hereditary tyrosinemia type-1 since 1991. Nitisinone effectively blocks the metabolism of tyrosine to prevent the formation...
4.
Ramaswami U, Bichet D, Clarke L, Dostalova G, Fainboim A, Fellgiebel A, et al.
Mol Genet Metab
. 2019 Apr;
127(1):86-94.
PMID: 30987917
Background: Fabry disease is a rare, X-linked, lifelong progressive lysosomal storage disorder. Severely deficient α-galactosidase A activity in males is associated with the classic phenotype with early-onset, multisystem manifestations evolving...
5.
Yi F, Hong X, Kumar A, Zong C, Boons G, Scott C, et al.
Mol Genet Metab
. 2018 Jul;
125(1-2):59-63.
PMID: 30006231
Background: With ongoing efforts to develop improved treatments for Sanfilippo Syndrome Type A (MPS-IIIA), a disease caused by the inability to degrade heparan sulfate in lysosomes, we sought to develop...
6.
Hong X, Kumar A, Scott C, Gelb M
Mol Genet Metab
. 2018 Apr;
124(2):101-108.
PMID: 29680633
All States screen for biotinidase deficiency and galactosemia, and X-linked adrenoleukodystrophy (X-ALD) has recently been added to the Recommended Uniform Screening Panel (RUSP).We sought to consolidate these tests by combining...
7.
Masi S, Chennamaneni N, Turecek F, Scott C, Gelb M
Clin Chem
. 2018 Jan;
64(4):690-696.
PMID: 29339442
Background: Deficiency of lysosomal acid lipase (LAL) causes Wolman disease and cholesterol ester storage disease. With the recent introduction of enzyme replacement therapy to manage LAL deficiency comes the need...
8.
Bodamer O, Scott C, Giugliani R
Pediatrics
. 2017 Nov;
140(Suppl 1):S4-S13.
PMID: 29162673
Started in 1963 by Robert Guthrie, newborn screening (NBS) is considered to be one of the great public health achievements. Its original goal was to screen newborns for conditions that...
9.
Chinsky J, Singh R, Ficicioglu C, van Karnebeek C, Grompe M, Mitchell G, et al.
Genet Med
. 2017 Aug;
19(12).
PMID: 28771246
Tyrosinemia type I (hepatorenal tyrosinemia, HT-1) is an autosomal recessive condition resulting in hepatic failure with comorbidities involving the renal and neurologic systems and long term risks for hepatocellular carcinoma....
10.
Buroker N, Ning X, Zhou Z, Li K, Cen W, Wu X, et al.
Hypoxia (Auckl)
. 2017 Aug;
5:67-74.
PMID: 28770234
Chronic mountain sickness (CMS) is estimated at 1.2% in Tibetans living at the Qinghai-Tibetan Plateau. Eighteen single-nucleotide polymorphisms (SNPs) from nine nuclear genes that have an association with CMS in...