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Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs

Cell stem cell, 2016-05, Vol.18 (5), p.625-636

2016

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Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial

Journal of inherited metabolic disease, 2017-11, Vol.40 (6), p.831-843

2017

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Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial

The Lancet (British edition), 2014-07, Vol.384 (9937), p.37-44

2014

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AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria

Molecular therapy. Methods & clinical development, 2020-06, Vol.17, p.234-245

2020

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Treatment of phenylketonuria using minicircle‐based naked‐DNA gene transfer to murine liver

Hepatology (Baltimore, Md.), 2014-09, Vol.60 (3), p.1035-1043

2014

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Meta-analysis of bone mineral density in adults with phenylketonuria

Orphanet journal of rare diseases, 2024-09, Vol.19 (1), p.338-22, Article 338

2024

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Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU)

Molecular Frontiers journal, 2019-12, Vol.3 (2), p.110-121

Harding, Cary O.

2019

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Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria

Orphanet journal of rare diseases, 2024-08, Vol.19 (1), p.293-51, Article 293

2024

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Enriched environment exposure accelerates rodent driving skills

Behavioural brain research, 2020-01, Vol.378, p.112309-112309, Article 112309

2020

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Development of a porcine model of phenylketonuria with a humanized R408W mutation for gene editing

PloS one, 2021-01, Vol.16 (1), p.e0245831-e0245831

2021

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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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Pharmacologic inhibition of L-tyrosine degradation ameliorates cerebral dopamine deficiency in murine phenylketonuria (PKU)

Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.735-743

2014

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Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

Nutrients, 2023-09, Vol.15 (18), p.3940

2023

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Nutrient intake, body composition, and blood phenylalanine control in children with phenylketonuria compared to healthy controls

Molecular genetics and metabolism reports, 2020-06, Vol.23, p.100599-100599, Article 100599

2020

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Autologous Gene and Cell Therapy Provides Safe and Long-Term Curative Therapy in A Large Pig Model of Hereditary Tyrosinemia Type 1

Cell transplantation, 2019-01, Vol.28 (1), p.79-88

2019

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Complete correction of murine phenylketonuria by selection-enhanced hepatocyte transplantation

Hepatology (Baltimore, Md.), 2024-05, Vol.79 (5), p.1088-1097

2024

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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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Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice

Blood, 2010-04, Vol.115 (16), p.3374-3381

2010

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Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

Molecular genetics and metabolism, 2012-05, Vol.106 (1), p.18-24

2012

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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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Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria

Clinical and translational science, 2021-09, Vol.14 (5), p.1894-1905

2021

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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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State-of-the-Art 2019 on Gene Therapy for Phenylketonuria

Human gene therapy, 2019-10, Vol.30 (10), p.1274-1283

2019

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Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening

Molecular genetics and metabolism, 2014-04, Vol.111 (4), p.484-492

2014

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A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Communications biology, 2023-08, Vol.6 (1), p.890-12, Article 890

2023

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Age-Related Accumulation of Somatic Mitochondrial DNA Mutations in Adult-Derived Human iPSCs

Triheptanoin versus trioctanoin for long-chain fatty acid oxidation disorders: a double blinded, randomized controlled trial

Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial

AAV-Mediated CRISPR/Cas9 Gene Editing in Murine Phenylketonuria

Treatment of phenylketonuria using minicircle‐based naked‐DNA gene transfer to murine liver

Meta-analysis of bone mineral density in adults with phenylketonuria

Prospects for Cell-Directed Curative Therapy of Phenylketonuria (PKU)

Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria

Enriched environment exposure accelerates rodent driving skills

Development of a porcine model of phenylketonuria with a humanized R408W mutation for gene editing

Progress toward cell-directed therapy for phenylketonuria

Pharmacologic inhibition of L-tyrosine degradation ameliorates cerebral dopamine deficiency in murine phenylketonuria (PKU)

Expert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria

Nutrient intake, body composition, and blood phenylalanine control in children with phenylketonuria compared to healthy controls

Autologous Gene and Cell Therapy Provides Safe and Long-Term Curative Therapy in A Large Pig Model of Hereditary Tyrosinemia Type 1

Complete correction of murine phenylketonuria by selection-enhanced hepatocyte transplantation

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

Hepatocyte-targeted HFE and TFR2 control hepcidin expression in mice

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies

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

Pharmacokinetic, pharmacodynamic, and immunogenic rationale for optimal dosing of pegvaliase, a PEGylated bacterial enzyme, in adult patients with phenylketonuria

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

State-of-the-Art 2019 on Gene Therapy for Phenylketonuria

Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening

A G1528C Hadha knock-in mouse model recapitulates aspects of human clinical phenotypes for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

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