G. Vockley

The response of patients with phenylketonuria and elevated serum phenylalanine to treatment with oral sapropterin dihydrochloride (6R-tetrahydrobiopterin): a phase II, multicentre, open-label, screening study

S. Cederbaum, B. Burton, C. Harding, 2007, Journal of Inherited Metabolic Disease.

REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population.

D. Lev, S. Korman, N. Gregersen, 2007, Molecular genetics and metabolism.

Mutations in the SC4MOL gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay

L. Ferris, M. He, A. Vallejo, 2008 .

The Role of ARF6 in Biliary Atresia

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2015, PloS one.

Elective Liver Transplantation for the Treatment of Classical Maple Syrup Urine Disease

E. Puffenberger, K. Strauss, D. Morton, 2006, American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons.

Host conditioning and rejection monitoring in hepatocyte transplantation in humans.

D. Stolz, M. Deutsch, S. Strom, 2017, Journal of hepatology.

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

D. Lockhart, R. Schiffmann, C. Barlow, 2016, Journal of Medical Genetics.

Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples

G. Kirov, M. Owen, M. O’Donovan, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen.

M. Durkin, Maureen S Durkin, W. Rhead, 2007, WMJ : official publication of the State Medical Society of Wisconsin.

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS

M. Marino, S. Cederbaum, J. Vockley, 2014, Genetics in Medicine.

Human Amnion Epithelial (hAE) Stem Cell Transplant Improves Disease Phenotype and Survival in the Intermediate Maple Syrup Urine Disease (iMSUD) Mouse Model

K. Dorko, T. Bottiglieri, F. Marongiu, 2010 .

BLOOD AMMONIA AND GLUTAMINE AS PREDICTORS OF HYPERAMMONEMIC CRISES IN UREA CYCLE DISORDER PATIENTS

S. Cederbaum, J. Vockley, N. Longo, 2014, Genetics in Medicine.

Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples

G. Kirov, M. Owen, M. O’Donovan, 2009, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.