A. Boney

发表

Fractures in children with Pompe disease: a potentiallong-term complication

D. Frush, Yuan-Tsong Chen, C. Morgan, 2007, Pediatric Radiology.

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

D. Millington, D. Koeberl, S. McCandless, 2003, Journal of Inherited Metabolic Disease.

Hypovitaminosis D in glycogen storage disease type I.

P. Kishnani, S. Austin, A. Boney, 2010, Molecular genetics and metabolism.

Glycogen storage disease type III-hepatocellular carcinoma a long-term complication?

D. Frush, D. Bali, M. Gottfried, 2007, Journal of hepatology.

Nutrition risk classification: a reproducible and valid tool for nurses.

C. Braunschweig, A. Boney, D. Kovacevich, 1997, Nutrition in clinical practice : official publication of the American Society for Parenteral and Enteral Nutrition.

Delivery of glucose-6-phosphatase in a canine model for glycogen storage disease, type Ia, with adeno-associated virus (AAV) vectors

Yuan-Tsong Chen, D. Koeberl, P. Kishnani, 2002, Gene Therapy.

Canine Model and Genomic Structural Organization of Glycogen Storage Disease Type Ia (GSD Ia)

D. Koeberl, P. Kishnani, A. Boney, 2001, Veterinary pathology.

Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics

W. Chung, M. Watson, S. B. Wechsler, 2014, Genetics in Medicine.

Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.

P. Kishnani, A. Boney, S. Young, 2011, Molecular genetics and metabolism.

Frequency of Celiac Disease in Individuals with Down Syndrome in the United States

P. Kishnani, W. Treem, J. Mackey, 2001, Clinical pediatrics.

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

C. Rehder, D. Bali, D. A. Weinstein, 2014, Molecular genetics and metabolism.

Nutritional deficiencies in a patient with glycogen storage disease type Ib

P. Kishnani, A. Boney, Y-T. Chen, 1999, Journal of Inherited Metabolic Disease.

Glycogen Storage Disease Type III diagnosis and management guidelines

W. Chung, M. Watson, S. B. Wechsler, 2010, Genetics in Medicine.

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

D. Frush, P. Arn, Yuan-Tsong Chen, 2005, Journal of Inherited Metabolic Disease.

Relationships among Dietary Intakes and Persistent Gastrointestinal Symptoms in Patients Receiving Enzyme Treatment for Genetic Sucrase-Isomaltase Deficiency.

A. Boney, H. Silver, H. Elser, 2018, Journal of the Academy of Nutrition and Dietetics.

The patient journey to diagnosis and treatment of congenital sucrase-isomaltase deficiency

E. Flood, A. Boney, B. Romero, 2021, Quality of Life Research.

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

D. Piccoli, P. Kishnani, B. Brown, 1996, Journal of Inherited Metabolic Disease.

Three successful pregnancies through dietary management of fructose-1,6-bisphosphatase deficiency

D. Koeberl, P. Kishnani, K. Eschrich, 2007, Journal of Inherited Metabolic Disease.

Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.

C. Rehder, D. Bali, A. Boneh, 2014, Molecular genetics and metabolism.