Anne Boney

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 Austin, José E. Abdenur et al. · Genetics in Medicine · 2014 · 495 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Glycogen Storage Disease Type III diagnosis and management guidelines

Priya S. Kishnani, Stephanie Austin, Pamela Arn et al. · Genetics in Medicine · 2010 · 305 citations · Full text

Medicine, Biochemistry, Internal Medicine +12

Hepatocellular carcinoma in glycogen storage disease type Ia: A case series

Luis M. Franco, Venkat Krishnamurthy, Deeksha Bali et al. · Journal of Inherited Metabolic Disease · 2004 · 215 citations

Medicine, Oncology, Pathology +16

Evaluation of 3‐methylcrotonyl‐CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening

Dwight D. Koeberl, David S. Millington, Wendy E. Smith et al. · Journal of Inherited Metabolic Disease · 2003 · 87 citations

Medicine, Biochemistry, Pediatrics +12

Clinical and laboratory findings in four patients with the non‐progressive hepatic form of type IV glycogen storage disease

Allyn McConkie‐Rosell, Callum Wilson, David A. Piccoli et al. · Journal of Inherited Metabolic Disease · 1995 · 63 citations

Medicine, Internal Medicine, Pathology +14