S Cederbaum
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Explore the profile of S Cederbaum including associated specialties, affiliations and a list of published articles.
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Articles
19
Citations
319
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Recent Articles
1.
Jurecki E, Cederbaum S, Kopesky J, Perry K, Rohr F, Sanchez-Valle A, et al.
Mol Genet Metab
. 2017 Feb;
120(3):190-197.
PMID: 28162992
Objective: Assess current management practices of phenylketonuria (PKU) clinics across the United States (US) based on the key treatment metrics of blood phenylalanine (Phe) concentrations and blood Phe testing frequency,...
2.
Mokhtarani M, Diaz G, Rhead W, Lichter-Konecki U, Bartley J, Feigenbaum A, et al.
Mol Genet Metab
. 2012 Sep;
107(3):308-14.
PMID: 22958974
Unlabelled: We have analyzed pharmacokinetic data for glycerol phenylbutyrate (also GT4P or HPN-100) and sodium phenylbutyrate with respect to possible dosing biomarkers in patients with urea cycle disorders (UCD). Study...
3.
Burton B, Grange D, Milanowski A, Vockley G, Feillet F, Crombez E, et al.
J Inherit Metab Dis
. 2007 Sep;
30(5):700-7.
PMID: 17846916
This study aimed to evaluate the response to and safety of an 8-day course of sapropterin dihydrochloride (6R-tetrahydrobiopterin or 6R-BH4) 10 mg/kg per day in patients with phenylketonuria (PKU), who...
4.
Hewson S, Clarke J, Cederbaum S
J Inherit Metab Dis
. 2003 Nov;
26(6):607-10.
PMID: 14605507
Arginase deficiency is a rare, autosomal recessive, disorder of the urea cycle characterized by mild hyperammonaemia, hyperargininaemia, dibasic aminoaciduria and orotic aciduria, associated with progressive spastic tetraplegia, seizures, psychomotor retardation,...
5.
Cederbaum S
Genet Med
. 2001 May;
2(6):345-9.
PMID: 11339655
Recombinant DNA technology has altered completely the face of genetics and its clinical practice. cDNAs for enzymes involved in inborn errors were among the first cloned, but the impact of...
6.
Singh R, Pervin S, Karimi A, Cederbaum S, Chaudhuri G
Cancer Res
. 2000 Jun;
60(12):3305-12.
PMID: 10866325
L-Arginine is the common substrate for two enzymes, arginase and nitric oxide synthase (NOS). Arginase converts L-arginine to L-ornithine, which is the precursor of polyamines, which are essential components of...
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Iyer R, Jenkinson C, Vockley J, Kern R, Grody W, Cederbaum S
J Inherit Metab Dis
. 1998 Aug;
21 Suppl 1:86-100.
PMID: 9686347
Arginase is the final enzyme in the urea cycle. Its deficiency is the least frequently described disorder of this cycle. It results primarily in elevated blood arginine, and less frequently...
10.
Grenier A, Cederbaum S, Laberge C, Gagne R, Jakobs C, Tanguay R
Prenat Diagn
. 1996 Mar;
16(3):239-42.
PMID: 8710777
Prenatal diagnosis of tyrosinaemia type I can be achieved in cultured amniotic cells and in chorionic villus material by testing the activity of fumarylacetoacetate hydrolase and by DNA analysis, and...