Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.
Hepatology., Sep (2012)
In vivo selection of transplanted hepatocytes by pharmacological inhibition of fumarylacetoacetate hydrolase in wild-type mice.
Mol. Ther., Oct;20(10):1981-7 (2012)
Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.
Mol. Genet. Metab., May;106(1):18-24 (2012)
Substrate oxidation and cardiac performance during exercise in disorders of long chain fatty acid oxidation.
Mol. Genet. Metab., Jan;105(1):110-5 (2012)
Up to date knowledge on different treatment strategies for phenylketonuria.
Mol. Genet. Metab., 104 Suppl:S19-25 (2011)
Hepatocytes from wild-type or heterozygous donors are equally effective in achieving successful therapeutic liver repopulation in murine phenylketonuria (PKU).
Mol. Genet. Metab., Nov;104(3):235-40 (2011)
Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening.
Pediatrics., Jul;128(1):e246-50 (2011)
Advances and challenges in phenylketonuria.
J. Inherit. Metab. Dis., Dec;33(6):645-8 (2010)
Prevalence and distribution of the c.1436Câ†’T sequence variant of carnitine palmitoyltransferase 1A among Alaska Native infants.
J. Pediatr., Jan;158(1):124-9 (2011)
New era in treatment for phenylketonuria: Pharmacologic therapy with sapropterin dihydrochloride.
Biologics., 4:231-6 (2010)
EFFECT OF FEEDING, EXERCISE AND GENOTYPE ON PLASMA 3-HYDROXYACYLCARNITINES IN CHILDREN WITH LCHAD DEFICIENCY.
Top Clin Nutr., Oct;24(4):359-365 (2009)
Therapeutic liver repopulation for phenylketonuria.
J. Inherit. Metab. Dis., Dec;33(6):681-7 (2010)
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.
Mol. Genet. Metab., 100 Suppl 1:S97-105 (2010)
Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice.
Blood., Apr;115(16):3374-81 (2010)
NORMAL FATTY ACID CONCENTRATIONS IN YOUNG CHILDREN WITH PHENYLKETONURIA (PKU).
Top Clin Nutr., Oct;24(4):333-340 (2009)
Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria.
Hum. Gene Ther., Apr;21(4):463-77 (2010)
Postchemotherapy hyperammonemic encephalopathy emulating ornithine transcarbamoylase (OTC) deficiency.
South. Med. J., May;101(5):543-5 (2008)
Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system.
Mol. Ther., Apr;16(4):673-81 (2008)
Effects of higher dietary protein intake on energy balance and metabolic control in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency.
Mol. Genet. Metab., Jan;90(1):64-9 (2007)
Metabolic control during exercise with and without medium-chain triglycerides (MCT) in children with long-chain 3-hydroxy acyl-CoA dehydrogenase (LCHAD) or trifunctional protein (TFP) deficiency.
Mol. Genet. Metab., 89(1-2):58-63 (2006 Sep-Oct)