Publications by authors named "David Kronn"

28Publications

Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.

Mol Genet Metab 2020 Sep - Oct;131(1-2):135-146. Epub 2020 Sep 17.

Department of Neurology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands; Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address:

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September 2020

Navigating Newborn Screening in the NICU: A User's Guide.

Authors:
David Kronn

Neoreviews 2019 05;20(5):e280-e291

Department of Pathology and Pediatrics, New York Medical College, Valhalla, NY.

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May 2019

Interpreting Osteogenesis Imperfecta Variants of Uncertain Significance in the Context of Physical Abuse: A Case Series.

J Pediatr Genet 2019 Jun 21;8(2):63-68. Epub 2018 Sep 21.

Department of Pediatrics, New York Medical College, Valhalla, New York, United States.

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June 2019

Detecting, quantifying, and discriminating the mechanism of mosaic chromosomal aneuploidies using MAD-seq.

Genome Res 2018 07 17;28(7):1039-1052. Epub 2018 May 17.

Department of Genetics and Center for Epigenomics, Albert Einstein College of Medicine, New York, New York 10461, USA.

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July 2018

Management of Confirmed Newborn-Screened Patients With Pompe Disease Across the Disease Spectrum.

Pediatrics 2017 Jul;140(Suppl 1):S24-S45

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina

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July 2017

The Initial Evaluation of Patients After Positive Newborn Screening: Recommended Algorithms Leading to a Confirmed Diagnosis of Pompe Disease.

Pediatrics 2017 Jul;140(Suppl 1):S14-S23

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina

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July 2017

Diagnostic guidelines for newborns who screen positive in newborn screening.

Genet Med 2010 Dec;12(12 Suppl):S251-5

Department of Pediatrics, New York Medical College, Valhalla, New York, USA.

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December 2010