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Progress toward cell-directed therapy for phenylketonuria

Clinical genetics, 2008-08, Vol.74 (2), p.97-104

Harding, CO

2008

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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

Journal of inherited metabolic disease, 2007-10, Vol.30 (5), p.700-707

2007

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Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2 8 vector-mediated gene therapy in murine phenylketonuria

Gene therapy, 2006-03, Vol.13 (5), p.457-462

2006

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Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

Molecular genetics and metabolism, 2012-11, Vol.107 (3), p.308-314

2012

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Glutamine and hyperammonemic crises in patients with urea cycle disorders

Molecular genetics and metabolism, 2016-01, Vol.117 (1), p.27-32

2016

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Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

Human molecular genetics, 2003-10, Vol.12 (20), p.2693-2702

2003

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Metabolic engineering as therapy for inborn errors of metabolism - development of mice with phenylalanine hydroxylase expression in muscle

Gene therapy, 1998-05, Vol.5 (5), p.677-683

1998

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Docosahexaenoic acid and retinal function in children with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency

Journal of inherited metabolic disease, 1999-05, Vol.22 (3), p.276-280

1999

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'Mommy, why can't I have a hamburger like the other kids?'

Gene therapy, 2000-12, Vol.7 (23), p.1969-1970

Harding, C O

2000

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Renal transplantation in a patient with methylmalonic acidaemia

Journal of inherited metabolic disease, 1998-10, Vol.21 (7), p.729-737

1998

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State-of-the-art 2003 on PKU gene therapy

Molecular Genetics and Metabolism, 2004, Vol.81 (1), p.3-8

2004

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Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Molecular genetics and metabolism, 2003-06, Vol.79 (2), p.114-123

2003

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Long-term survival in typical thanatophoric dysplasia type 1

American journal of medical genetics, 1997-06, Vol.70 (4), p.427-436

1997

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P.43 Ketone supplementation before exercise in long-chain fatty acid oxidation disorder (LC-FAOD) patients suppressed lipolysis despite mild increases in blood ketones

Molecular genetics and metabolism, 2024-04, Vol.141, p.108409, Article 108409

2024

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The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria

Molecular genetics and metabolism, 2004, Vol.81 (1), p.52-57

2004

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Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria

Human gene therapy, 2010-04, Vol.21 (4), p.463-477

2010

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sar: A Genetic Mouse Model for Human Sarcosinemia Generated by Ethylnitrosourea Mutagenesis

Proceedings of the National Academy of Sciences - PNAS, 1992-04, Vol.89 (7), p.2644-2648

1992

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P.13 - Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs)

Molecular genetics and metabolism, 2022-05, Vol.136, p.S14-S14

2022

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Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs)

Molecular genetics and metabolism, 2022-05, Vol.136, p.S14

2022

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The Mouse Mutation Sarcosinemia (sar) Maps to Chromosome 2 in a Region Homologous to Human 9q33–q34

Genomics (San Diego, Calif.), 1996-08, Vol.36 (1), p.182-184

1996

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Mice with genetic gamma-glutamyl transpeptidase deficiency exhibit glutathionuria, severe growth failure, reduced life spans, and infertility

The Journal of biological chemistry, 1997-05, Vol.272 (19), p.12560-12567

1997

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Liver gene therapy for PKU using minicirde-based naked-DNA vectors

Molecular therapy, 2012-09, Vol.20 (9), p.23-23

2012

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Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate

The Journal of pediatrics, 2013-06, Vol.162 (6), p.1228-1234.e1

2013

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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

Journal of neurochemistry, 2006-05, Vol.97 (3), p.899-910

2006

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Respiratory complications in children with spondyloepiphyseal dysplasia congenita

Pediatric pulmonology, 1990, Vol.9 (1), p.49-54

1990

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Progress toward cell-directed therapy for phenylketonuria

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

Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2 8 vector-mediated gene therapy in murine phenylketonuria

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

Glutamine and hyperammonemic crises in patients with urea cycle disorders

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency

Metabolic engineering as therapy for inborn errors of metabolism - development of mice with phenylalanine hydroxylase expression in muscle

Docosahexaenoic acid and retinal function in children with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency

'Mommy, why can't I have a hamburger like the other kids?'

Renal transplantation in a patient with methylmalonic acidaemia

State-of-the-art 2003 on PKU gene therapy

Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Long-term survival in typical thanatophoric dysplasia type 1

P.43 Ketone supplementation before exercise in long-chain fatty acid oxidation disorder (LC-FAOD) patients suppressed lipolysis despite mild increases in blood ketones

The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria

Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria

sar: A Genetic Mouse Model for Human Sarcosinemia Generated by Ethylnitrosourea Mutagenesis

P.13 - Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs)

Resting and total energy expenditure of patients with long-chain fatty acid oxidation disorders (LC-FAODs)

The Mouse Mutation Sarcosinemia (sar) Maps to Chromosome 2 in a Region Homologous to Human 9q33–q34

Mice with genetic gamma-glutamyl transpeptidase deficiency exhibit glutathionuria, severe growth failure, reduced life spans, and infertility

Liver gene therapy for PKU using minicirde-based naked-DNA vectors

Ammonia Control in Children Ages 2 Months through 5 Years with Urea Cycle Disorders: Comparison of Sodium Phenylbutyrate and Glycerol Phenylbutyrate

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

Respiratory complications in children with spondyloepiphyseal dysplasia congenita

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