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Results for Inborn Errors of Metabolism

1 - 10 of 18

Rebecca C. Ahrens-Nicklas, MD, PhD
Rebecca C. Ahrens-Nicklas, MD, PhD

Dr. Ahrens-Nicklas works to understand why patients with inherited biochemical disorders often suffer severe, untreatable neurologic and cardiac symptoms. She strives to elucidate the link between biochemistry and network excitability, in order to drive new approaches to therapy.

E-mail:
ahrensnicklasr [at] chop.edu
Daniel P. Kelly, MD
Daniel P. Kelly

Dr. Kelly’s research career began with deciphering the genetic basis of inborn errors in metabolism in children, followed by a series of breakthrough discoveries relevant to the diagnosis and treatment of common forms of heart failure in the general population.

E-mail:
dankelly [at] pennmedicine.upenn.edu
Lauren Krivitzky, PhD, ABPP-CN
Lauren Krivitzky, PhD, ABPP-CN

Dr. Krivitzky's research focuses on cognitive, behavioral, and social outcomes in pediatric stroke and related vascular conditions. She also has an interest in studying outcomes in children and adults with inborn errors of metabolism.

E-mail:
krivitzkyl [at] chop.edu
Stephen R. Master, MD, PhD
Stephen R. Master

Dr. Master works to understand the biochemical pathways related to inborn errors of metabolism, particularly as they relate to mitochondrial function. He also focuses on bioinformatics and machine learning solutions to problems in mass spectrometry and laboratory medicine.

E-mail:
masters [at] chop.edu

From ‘Generation to Generation:’ Faculty Spotlight With Itzhak Nissim, PhD

Published on
Apr 27, 2022
in Cornerstone Blog
Faculty Spotlight With Itzhak Nissim, PhD
Dr. Nissim studies the relationship of the metabolome and the fluxome to the genome in normal and disease states.

At the Interface of RNA Biology & Genomics: Q&A With Lan Lin, PhD

Published on
Jan 26, 2022
in Cornerstone Blog
Q&A With Lan Lin, PhD
Meet our first Faculty Spotlight scientist of 2022, Lan Lin, PhD.

Faculty Spotlight: ‘There is no one path in science.’ Q&A With Will Bailis, PhD

Published on
Jun 16, 2021
in Cornerstone Blog
Will Bailis, PhD
Meet our featured Faculty Spotlight scientist for June, Will Bailis, PhD.

Faculty Spotlight: ‘Bench to Bedside and Back’ With Rebecca Ahrens-Nicklas, MD, PhD

Published on
May 10, 2021
in Cornerstone Blog
Faculty Spotlight: ‘Bench to Bedside and Back’ With Rebecca Ahrens-Nicklas, MD, PhD
Meet our featured Faculty Spotlight scientist for May, Rebecca Ahrens-Nicklas, MD, PhD, assistant professor of Pediatrics at CHOP.

Creating a Community: More Inspiration From Women in STEM

Published on
Mar 10, 2021
in Cornerstone Blog
More Inspiration From Women in STEM at CHOP
We feature seven more women in STEM at CHOP nominated by leaders of their Centers of Emphasis.

CHOP Expert in Metabolic Diseases Appointed to State Rare Diseases Council

Published on
Dec 4, 2017
in Press Releases
Can Ficicioglu, MD, PhD, a physician-scientist who is an expert in genetic disorders called inborn errors of metabolism, was appointed by the Pennsylvania Department of Health to a statewide Rare Diseases Advisory Council.
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In this section

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  • Principal Investigator / Faculty (4)

Organizations

  • Center for Autism Research (2)
  • Department of Pathology and Laboratory Medicine (2)
  • Department of Pediatrics (2)
  • Division of Human Genetics (2)
  • PolicyLab (2)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (2)
  • Ahrens-Nicklas Laboratory (1)
  • Bailis Laboratory (1)
  • Center for Childhood Cancer Research (1)
  • Center for Computational and Genomic Medicine (1)
  • Center for Pediatric Clinical Effectiveness (1)
  • Department of Anesthesiology and Critical Care Medicine (1)
  • Intellectual and Developmental Disabilities Research Center (1)
  • Lin Laboratory (1)
  • Metabolomic Core (1)
  • Neuroscience Research Affinity Group (1)
  • Nissim Laboratory (1)

In this section

Filter By

  • Principal Investigator / Faculty (4)

Organizations

  • Center for Autism Research (2)
  • Department of Pathology and Laboratory Medicine (2)
  • Department of Pediatrics (2)
  • Division of Human Genetics (2)
  • PolicyLab (2)
  • Raymond G. Perelman Center for Cellular and Molecular Therapeutics (2)
  • Ahrens-Nicklas Laboratory (1)
  • Bailis Laboratory (1)
  • Center for Childhood Cancer Research (1)
  • Center for Computational and Genomic Medicine (1)
  • Center for Pediatric Clinical Effectiveness (1)
  • Department of Anesthesiology and Critical Care Medicine (1)
  • Intellectual and Developmental Disabilities Research Center (1)
  • Lin Laboratory (1)
  • Metabolomic Core (1)
  • Neuroscience Research Affinity Group (1)
  • Nissim Laboratory (1)
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