Publications by authors named "Anne Boney"

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The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency.
Heather Smith, Beverly Romero, Emuella Flood, Anne Boney

Qual Life Res· August 2021

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Relationships among Dietary Intakes and Persistent Gastrointestinal Symptoms in Patients Receiving Enzyme Treatment for Genetic Sucrase-Isomaltase Deficiency.
Anne Boney, Heather E Elser, Heidi J Silver

J Acad Nutr Diet· March 2018

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Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics.
Priya S Kishnani, Stephanie L Austin, Jose E Abdenur, Pamela Arn, Deeksha S Bali, Anne Boney

Genet Med· November 2014

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Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
Deeksha S Bali, Jennifer L Goldstein, Keri Fredrickson, Catherine Rehder, Anne Boney

Mol Genet Metab· March 2014

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Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.
Areeg H El-Gharbawy, Anne Boney, Sarah P Young, Priya S Kishnani

Mol Genet Metab· February 2011

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Glycogen storage disease type III diagnosis and management guidelines.
Priya S Kishnani, Stephanie L Austin, Pamela Arn, Deeksha S Bali, Anne Boney

Genet Med· July 2010

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Hypovitaminosis D in glycogen storage disease type I.
Suhrad G Banugaria, Stephanie L Austin, Anne Boney, Thomas J Weber, Priya S Kishnani

Mol Genet Metab· April 2010

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Fractures in children with Pompe disease: a potential long-term complication.
Laura E Case, Rabi Hanna, Donald P Frush, Vidya Krishnamurthy, Stephanie DeArmey, Anne Boney

Pediatr Radiol· May 2007

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Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?
Erin Demo, Donald Frush, Marcia Gottfried, John Koepke, Anne Boney

J Hepatol· March 2007

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