Nature Search

Sensitivity to Carbohydrate in a Patient with Familial Intermittent Lactic Acidosis and Pyruvate Dehydrogenase Deficiency

Stephen D Cederbaum
John P Blass
Sandra H Harris
Research01 Aug 1976
Pediatric Research

Volume: 10, P: 713-720
Striatal dopamine nerve terminal markers in human, chronic methamphetamine users

Julie M. Wilson
Kathryn S. Kalasinsky
Stephen J. Kish
Research01 Jun 1996
Nature Medicine

Volume: 2, P: 699-703
Molecular diagnosis and inborn errors of metabolism: A practitioner's view

Stephen Cederbaum
Reviews01 Nov 2000
Genetics in Medicine

Volume: 2, P: 345-349
Mutations in the α₁ subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

Rita Shiang
Stephen G. Ryan
John Jacob Wasmuth
Research01 Dec 1993
Nature Genetics

Volume: 5, P: 351-358
PROPERTIES OF HUMAN ADULT AND FETAL RED BLOOD CELL ARGINASE: A POSSIBLE DIAGNOSTIC TEST FOR ARGINASE DEFICIENCY

Elaine B Spector
Stephen P Cederbaum
E Richard Stiehm
Research01 Apr 1977
Pediatric Research

Volume: 11, P: 464
FALSE POSITIVE PRENATAL DIAGNOSIS OF GALACTOSEMIA

Stephen J Sepe
Harvey L Levy
Won G Ng
Research01 Apr 1977
Pediatric Research

Volume: 11, P: 464
707 HOMOCYSTINURIA DUE TO METHYLENE TETRAHYDROFOLATE RE-DUCTASE (MTHFR) DEFICIENCY: RESPONSE TO A HIGH-PROTEIN DIET

Stephen D Cederbaum
Kenneth N F Shaw
Robert E Carrel
Research01 Apr 1981
Pediatric Research

Volume: 15, P: 560
Deletion in Blood Mitochondrial DNA in Kearns-Sayre Syndrome

Nathan Fischel-Ghodsian
M Charlotte Bohlman
Matthew J Edwards
Research01 Jun 1992
Pediatric Research

Volume: 31, P: 557-560
INHIBITION OF PURINE NUCLEOTIDE BIOSYNTHESIS BY AMMONIA: A POTENTIAL MECHANISM FOR PHYSICAL AND MENTAL RETARDATION IN CHRONIC HYPERAMMONEMIA

Stephen D Skaper
Irwin A Schafer
Research01 Apr 1977
Pediatric Research

Volume: 11, P: 464
The Impact of Recombinant DNA on Inborn Errors of Metabolism

Stephen Cederbaum
Research Highlights01 Jan 2000
Genetics in Medicine

Volume: 2, P: 47
Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency: An Inherited Cause of Nonketotic Hypoglycemia

Daniel E Hale
Mark L Batshaw
Charles A Stanley
Research01 Jul 1985
Pediatric Research

Volume: 19, P: 666-671
Attosecond spectroscopy reveals alignment dependent core-hole dynamics in the ICl molecule

Here the authors report a study measuring lifetimes of core-hole states of ICl molecule using attosecond transient absorption spectroscopy. They find that lifetimes depend on the alignment of the orbital relative to the molecular axis.

Hugo J. B. Marroux
Ashley P. Fidler
Daniel M. Neumark
ResearchOpen Access16 Nov 2020
Nature Communications

Volume: 11, P: 1-8
On the nature and origin of dicationic, charge-separated species formed in liquid water on X-ray irradiation

Previously unobserved types of reactive species formed on the core ionization of liquid water have been identified using a combination of liquid microjet photoemission spectroscopy and ab initio calculations. The charge-separated di-cationic species are formed within a few femtoseconds, through proton-transfer-mediated processes followed by autoionization.

Stephan Thürmer
Milan Ončák
Bernd Winter
Research20 Jun 2013
Nature Chemistry

Volume: 5, P: 590-596
What will it take to observe processes in 'real time'?

Even for simple systems, the interpretations of new attosecond measurements are complicated and provide only a glimpse of their potential. Nonetheless, the lasting impact will be the revelation of how short-time dynamics can determine the electronic properties of more complex systems.

Stephen R. Leone
C. William McCurdy
Marc J. J. Vrakking
Comments & Opinion28 Feb 2014
Nature Photonics

Volume: 8, P: 162-166
Newborn screening 50 years later: access issues faced by adults with PKU

Susan A. Berry
Christine Brown
Stephen Cederbaum
ReviewsOpen Access07 Mar 2013
Genetics in Medicine

Volume: 15, P: 591-599
Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

Simon A. Jones
Vassili Valayannopoulos
Anthony G. Quinn
ResearchOpen Access27 Aug 2015
Genetics in Medicine

Volume: 18, P: 452-458
Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

Sureni V Mullegama
Steven D Klein
Julian A Martinez-Agosto
Research21 Sept 2017
Genetics in Medicine

Volume: 19, P: 1380
Clinical and Functional Characterization of a Human ORNT1 Mutation (T32R) in the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome

José A Camacho
Rebecca Mardach
Stephen D Cederbaum
Research01 Oct 2006
Pediatric Research

Volume: 60, P: 423-429
Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder

Brendan Lee
George A. Diaz
Bruce F. Scharschmidt
ResearchOpen Access11 Dec 2014
Genetics in Medicine

Volume: 17, P: 561-568
CYP2A6 is associated with obesity: studies in human samples and a high fat diet mouse model

Kesheng Wang
Xue Chen
Yongke Lu
Research20 Feb 2018
International Journal of Obesity

Volume: 43, P: 475-486
Interpreting sequence variants in a clinical context

Stephen Cederbaum
Correspondence05 Nov 2015
Genetics in Medicine

Volume: 17, P: 1012

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