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)
Intracerebral accumulation of glutaric and 3-hydroxyglutaric acids secondary to limited flux across the blood-brain barrier constitute a biochemical risk factor for neurodegeneration in glutaryl-CoA dehydrogenase deficiency.
J. Neurochem., May;97(3):899-910 (2006)
Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria.
Gene Ther., Mar;13(5):457-62 (2006)
Low therapeutic threshold for hepatocyte replacement in murine phenylketonuria.
Mol. Ther., Aug;12(2):337-44 (2005)
Effect of optimal dietary therapy upon visual function in children with long-chain 3-hydroxyacyl CoA dehydrogenase and trifunctional protein deficiency.
Mol. Genet. Metab., 86(1-2):124-33 (2005 Sep-Oct)
Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene.
Mol. Genet. Metab., 86(1-2):250-6 (2005 Sep-Oct)
The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria.
Mol. Genet. Metab., Jan;81(1):52-7 (2004)
State-of-the-art 2003 on PKU gene therapy.
Mol. Genet. Metab., Jan;81(1):3-8 (2004)
Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pah(enu2) mice.
J Gene Med., Nov;5(11):984-93 (2003)
Metabolic engineering as therapy for inborn errors of metabolism--development of mice with phenylalanine hydroxylase expression in muscle.
Gene Ther., May;5(5):677-83 (1998)
Functional methionine synthase deficiency due to cblG disorder: a report of two patients and a review.
Am. J. Med. Genet., Sep;71(4):384-90 (1997)
Long-term survival in typical thanatophoric dysplasia type 1.
Am. J. Med. Genet., Jun;70(4):427-36 (1997)
Mice with genetic gamma-glutamyl transpeptidase deficiency exhibit glutathionuria, severe growth failure, reduced life spans, and infertility.
J. Biol. Chem., May;272(19):12560-7 (1997)
The mouse mutation sarcosinemia (sar) maps to chromosome 2 in a region homologous to human 9q33-q34.
Genomics., Aug;36(1):182-4 (1996)
Case reports of successful pregnancy in women with maple syrup urine disease and propionic acidemia.
Am. J. Med. Genet., Nov;44(5):641-6 (1992)