Author Page for Steven F. Dobrowolski

Diagnosis amidst clinical and biochemical heterogeneity in FH disease

Number of pages: 16 Posted: 31 Oct 2025

Monica Madya, Kaitlyn Bloom, Alan Cahill, Jerry Vockley, Luis Fernandez, Steven F. Dobrowolski and Rebecca Ganetzky

University of Pennsylvania, affiliation not provided to SSRN, affiliation not provided to SSRN, University of Pittsburgh - UPMC Children’s Hospital of Pittsburgh, affiliation not provided to SSRN, University of Pittsburgh - School of Medicine and University of Pennsylvania - Perelman School of Medicine

Downloads 68 (899,324)

Abstract:

2.

Does Hyperphenylalaninemia Induce Brain Glucose Hypometabolism? Cerebral Spinal Fluid (CSF) Findings in Treated Adult Phenylketonuric (PKU) Patients

Number of pages: 31 Posted: 09 Feb 2024

F. Trefz, Friedrich Trefz, Georg Frauendienst-Egger, Gerald Dienel, Claire Cannet, Brigitte Schmidt-Mader, Dorothea Haas, Nenad Blau, Nastassja Himmelreich, Manfred Spraul, Peter Freisinger, Steven F. Dobrowolski, Daniela Berg and Andrea Pilotto

Heidelberg University, Heidelberg University, affiliation not provided to SSRN, University of Arkansas for Medical Sciences, Bruker Biospin GmbH, Heidelberg University, Heidelberg University, affiliation not provided to SSRN, Heidelberg University, University of Tübingen - University Hospitals Tübingen, affiliation not provided to SSRN, University of Pittsburgh - School of Medicine, Christian Albrechts University Kiel and University of Brescia - Department of Clinical and Experimental Sciences

Downloads 59 (980,173)

Abstract:

3.

A Multiomics Approach to Understanding Pathology of Combined D,L-2- Hydroxyglutaric Aciduria and Developing a Novel Treatment

Number of pages: 19 Posted: 09 Feb 2024

Yu Leng Phua, Olivia M. D'Annibale, Anuradha Karunanidhi, Al-Walid Mohsen, Brian Kirmse, Steven F. Dobrowolski and Jerry Vockley

University of Pittsburgh - School of Medicine, University of Pittsburgh - School of Medicine, University of Pittsburgh - UPMC Children’s Hospital of Pittsburgh, University of Pittsburgh - UPMC Children’s Hospital of Pittsburgh, University of Mississippi - University of Mississippi Medical Center, University of Pittsburgh - School of Medicine and University of Pittsburgh - UPMC Children’s Hospital of Pittsburgh

Downloads 38 (1,222,651)

Steven F. Dobrowolski

University of Pittsburgh - School of Medicine

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Scholarly Papers (3)

Diagnosis amidst clinical and biochemical heterogeneity in FH disease

Abstract:

Does Hyperphenylalaninemia Induce Brain Glucose Hypometabolism? Cerebral Spinal Fluid (CSF) Findings in Treated Adult Phenylketonuric (PKU) Patients

Abstract:

A Multiomics Approach to Understanding Pathology of Combined D,L-2- Hydroxyglutaric Aciduria and Developing a Novel Treatment

Abstract: