Publications by authors named "Rebecca Ganetzky"

40Publications

TRMU deficiency: A broad clinical spectrum responsive to cysteine supplementation.

Mol Genet Metab 2021 Jan 14. Epub 2021 Jan 14.

Division of Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, United States of America; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, United States of America. Electronic address:

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January 2021

Mitochondrial medicine therapies: rationale, evidence, and dosing guidelines.

Curr Opin Pediatr 2020 Dec;32(6):707-718

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia.

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December 2020

Persistent Lactic Acidosis in an 18-month-old Girl Status Post Bone Marrow Transplant.

Pediatr Rev 2020 Oct;41(Suppl 1):S20-S22

Division of Genetics, Section of Metabolic Disease Children's Hospital of Philadelphia, Philadelphia, PA.

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October 2020

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening.

Int J Neonatal Screen 2020 Jun 16;6(2). Epub 2020 May 16.

Department of Pediatrics, Division of Human Genetics, Section of Biochemical Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

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June 2020

Machine Learning for the Biochemical Genetics Laboratory.

Clin Chem 2020 Sep;66(9):1134-1135

Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA.

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September 2020

Urinary Uracil: A Useful Marker for Ornithine Transcarbamylase Deficiency in Affected Males.

Clin Chem 2020 Jul;66(7):988-989

Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA.

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July 2020

Delineating -associated disease: From isolated neuropathy to early onset neurodegeneration.

Neurol Genet 2020 Feb 13;6(1):e393. Epub 2020 Jan 13.

Department of Neurology (C.S.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE), Munich, Germany; Institute of Human Genetics (C.N.), Department of Medical Genetics, University of Göttingen, Germany; Department of Pediatrics (E.F.), Salzburg State Hospitals (SALK) and Paracelsus Medical University; Division of Clinical Genetics Salzburg State Hospitals and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (S.Y., F.F.), Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China; Mitochondrial Medicine Frontier Program (R.D.G., M.J.F.), Children's Hospital of Philadelphia; Division of Human Genetics (R.D.G.), Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia; Department of Pediatrics (R.D.G.), Perelman School of Medicine, University of Pennsylvania; Institute of Medical Genetics and Applied Genomics (J.P.), University of Tübingen, Germany; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research (J.P.), University of Tübingen, Germany; Children's Hospital (P.F.), Klinikum Reutlingen, Reutlingen; Department of Neurology (C.K.), University Hospital Bonn; Medical Genetic Center (S.K.), Munich; Department of Neurodegeneration (L.S., M.S.), Hertie Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (L.S.), Tübingen; Department of General Pediatrics (F.D.), Neonatology and Pediatric Cardiology, University Children's Hospital, Heinrich-Heine University, Duesseldorf, Germany; Division of Pediatric Neurology (G.M.S.), University Children's Hospital Zurich, Switzerland; Department of Neurology (B.B.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Department of Pediatrics (J.A.M.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Department of Neurology (A.A.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich, Germany; Medical Genetic Center (A.A.), Munich; Institute of Medical Genetics and Applied Genomics (T.B.H.), Tübingen, Germany; Institute of Human Genetics (H.P.), Technische Universität München, Munich, Germany; Institute of Human Genetics (H.P.), Helmholtz Center Munich, Neuherberg, Germany; Department of Pediatrics (S.B.W.), Salzburg State Hospitals (SALK) and Paracelsus Medical University, Salzburg, Austria; Institute of Human Genetics, Technische Universität München, Munich, Germany; Institute of Human Genetics (S.B.W.), Helmholtz Center Munich, Neuherberg, Germany; Center for Medical Genetics (K.M.), and Department of Metabolism, Chiba Children's Hospital, Chiba, Japan; and Department of Neurology (T.K.), Friedrich-Baur-Institute, Ludwig-Maximilians-University Munich; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster for Systems Neurology (SyNergy) (T.K.), Ludwig Maximilians University Munich, Germany.

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February 2020

Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.

Am J Med Genet A 2020 02 11;182(2):365-373. Epub 2019 Dec 11.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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February 2020

Matched Retrospective Cohort Study of Thiamine to Treat Persistent Hyperlactatemia in Pediatric Septic Shock.

Pediatr Crit Care Med 2019 09;20(9):e452-e456

Department of Anesthesiology and Critical Care, Children's Hospital of Philadelphia, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.

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September 2019

MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.

Hum Mutat 2019 05 4;40(5):499-515. Epub 2019 Mar 4.

Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

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May 2019

Characteristics and outcomes of patients with formiminoglutamic aciduria detected through newborn screening.

J Inherit Metab Dis 2019 01;42(1):140-146

Division of Human Genetics, The Children's Hospital of Philadelphia, Colket Translational Research Building, 3501 Civic Center Blvd, Floor 9, 19104, Philadelphia, Pennsylvania, USA.

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January 2019

Hyperornithinemia, Hyperammonemia, and Homocitrullinuria Syndrome Causing Severe Neonatal Hyperammonemia.

JIMD Rep 2019 6;44:103-107. Epub 2018 Sep 6.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

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September 2018

Microvascular endothelial dysfunction in mitochondrial stroke-like episodes supports use of intravenous l-arginine.

Mol Genet Metab Rep 2018 Jun 9;15:74. Epub 2018 Mar 9.

Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Division of Human Genetics, Department of Pediatrics, University of Pennsylvania Perelman School of Medicine Philadelphia, PA, USA.

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June 2018