S
Stephen I. Goodman
Researcher at University of Colorado Denver
Publications - 172
Citations - 9409
Stephen I. Goodman is an academic researcher from University of Colorado Denver. The author has contributed to research in topics: Glutaryl-CoA dehydrogenase & Glutaric acid. The author has an hindex of 52, co-authored 172 publications receiving 8948 citations. Previous affiliations of Stephen I. Goodman include National Institutes of Health & Anschutz Medical Campus.
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Journal ArticleDOI
Newborn Screening: Toward a Uniform Screening Panel and System—Executive Summary
Michael S. Watson,Marie Y. Mann,Michele A. Lloyd-Puryear,Piero Rinaldo,R. Rodney Howell,José F. Cordero,E. Steven Edwards,Jennifer L. Howse,Tricia Mullaley,Peter C. van Dyck,William Becker,Coleen A. Boyle,George C. Cunningham,Michael R. DeBaun,Stephen M. Downs,Edward B. Goldman,Stephen I. Goodman,Fernando Guerra,W. Harry Hannon,James W. Hanson,Cecilia Larson,Scott D. McLean,Gurvaneet Randhawa,Derek Robertson,Mark A. Rothstein,Robert D. Steiner,Sonia M. Suter,Bradford L. Therrell,Thomas F. Tonniges,Wanda Yazzie,Donald B. Bailey,Celia I. Kaye,Alex R. Kemper,Kenneth A. Pass,Jennifer M. Puck,Franklin Desposito,Gary Hoffman,Kathy Stagni,Arnold W. Strauss,Tracy L. Trotter,Anne M. Willey,Harvey L. Levy,James R. Eckman,Fred Lorey,Deborah Marsden,Julie Miller,Danielle Laraque,Kelly R. Leight,Barbara P. Yawn,Edward B. Goldman,Beverly Dozier,Lynn D. Fleisher +51 more
TL;DR: The Maternal and Child Health Bureau commissioned the American College of Medical Genetics to outline a process of standardization of outcomes and guidelines for state newborn screening programs and to define responsibilities for collecting and evaluating outcome data, including a recommended uniform panel of conditions to include in state newborn screenings programs.
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Mitochondrial disease in superoxide dismutase 2 mutant mice
Simon Melov,Pinar Coskun,Manisha Patel,Robbyn L. Tuinstra,Barbara A. Cottrell,Albert S. Jun,Tomsz H. Zastawny,Miral Dizdaroglu,Stephen I. Goodman,Ting-Ting Huang,Henry M. Miziorko,Charles J. Epstein,Douglas C. Wallace +12 more
TL;DR: Results indicate that the increase in mitochondrial reactive oxygen species can result in biochemical aberrations with features reminiscent of mitochondrial myopathy, Friedreich ataxia, and 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
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Glutaric aciduria; A “new” disorder of amino acid metabolism☆
TL;DR: It is speculated, but not proved, that the biochemical abnormality is causally related to the central nervous system dysfunction and compatible with an inherited deficiency of glutaryl-CoA dehydrogenase.
Journal ArticleDOI
Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency
TL;DR: The findings indicate that the primary biochemical defect in late-onset multiple carboxylase deficiency is in biotinidase activity which is inherited as an autosomal recessive trait.
Journal ArticleDOI
Diagnosis and management of glutaric aciduria type I--revised recommendations.
Stefan Kölker,Ernst Christensen,James V. Leonard,Cheryl R. Greenberg,Avihu Boneh,Alberto Burlina,Alessandro P. Burlina,Marjorie Dixon,Marinus Duran,Angels Garcia Cazorla,Stephen I. Goodman,David M. Koeller,Mårten Kyllerman,Chris Mühlhausen,E. Müller,Jürgen G. Okun,Bridget Wilcken,Georg F. Hoffmann,Peter Burgard +18 more
TL;DR: The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline.