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Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency

Proceedings of the National Academy of Sciences - PNAS, 2019-10, Vol.116 (42), p.21150-21159

2019

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The role and control of arginine levels in arginase 1 deficiency

Journal of inherited metabolic disease, 2023-01, Vol.46 (1), p.3-14

2023

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Taste-masked formulation of sodium phenylbutyrate (ACER-001) for the treatment of urea cycle disorders

Molecular genetics and metabolism, 2023-04, Vol.138 (4), p.107558-107558, Article 107558

2023

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Newborn screening for hyperargininemia due to arginase 1 deficiency

Molecular genetics and metabolism, 2017-08, Vol.121 (4), p.308-313

2017

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Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up

Molecular genetics and metabolism reports, 2019-12, Vol.21, p.100517-100517, Article 100517

2019

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Intermittent lipid nanoparticle mRNA administration prevents cortical dysmyelination associated with arginase deficiency

Molecular therapy. Nucleic acids, 2022-06, Vol.28, p.859-874

2022

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Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

Genetics in medicine, 2017-12, Vol.19 (12), p.1380-1381

2017

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Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

Genetics in medicine, 2016-05, Vol.18 (5), p.452-458

2016

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Biopsy-proven Hepatocellular Carcinoma in a 53-year-old Woman With Arginase Deficiency

Pediatric and developmental pathology, 2017-12, Vol.20 (6), p.517-521

2017

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Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency

The Journal of pediatrics, 2014-04, Vol.164 (4), p.720-725.e6

2014

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Tetrahydrobiopterin and PKU: Into the Future

The Journal of pediatrics, 2011-03, Vol.158 (3), p.351-353

Cederbaum, Stephen, MD

2011

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Human hepatocyte transplantation corrects the inherited metabolic liver disorder arginase deficiency in mice

Molecular genetics and metabolism, 2018-06, Vol.124 (2), p.114-123

2018

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Rescue of the Functional Alterations of Motor Cortical Circuits in Arginase Deficiency by Neonatal Gene Therapy

The Journal of neuroscience, 2016-06, Vol.36 (25), p.6680-6690

2016

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Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse

Molecular genetics and metabolism, 2013-11, Vol.110 (3), p.222-230

2013

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Diabetes-induced vascular dysfunction involves arginase I

American journal of physiology. Heart and circulatory physiology, 2012-01, Vol.302 (1), p.H159-H166

2012

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Cross-sectional multicenter study of patients with urea cycle disorders in the United States

Molecular genetics and metabolism, 2008-08, Vol.94 (4), p.397-402

2008

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Plasma arginine levels in arginase deficiency in the “real world”

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101042-101042, Article 101042

2024

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Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database

Molecular genetics and metabolism, 2013-12, Vol.110 (4), p.477-483

2013

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Biochemical markers and neuropsychological functioning in distal urea cycle disorders

Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.657-667

2018

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Long-term Survival of the Juvenile Lethal Arginase-deficient Mouse With AAV Gene Therapy

Molecular therapy, 2012-10, Vol.20 (10), p.1844-1851

2012

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Hyperargininemia due to liver arginase deficiency

Molecular genetics and metabolism, 2005-03, Vol.84 (3), p.243-251

2005

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Arginases I and II: do their functions overlap?

Molecular genetics and metabolism, 2004-04, Vol.81, p.38-44

2004

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Contrasting features of urea cycle disorders in human patients and knockout mouse models

Molecular genetics and metabolism, 2008-01, Vol.93 (1), p.7-14

2008

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A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

Molecular genetics and metabolism, 2009-03, Vol.96 (3), p.85-90

2009

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Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency

The role and control of arginine levels in arginase 1 deficiency

Taste-masked formulation of sodium phenylbutyrate (ACER-001) for the treatment of urea cycle disorders

Newborn screening for hyperargininemia due to arginase 1 deficiency

Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up

Intermittent lipid nanoparticle mRNA administration prevents cortical dysmyelination associated with arginase deficiency

Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

Biopsy-proven Hepatocellular Carcinoma in a 53-year-old Woman With Arginase Deficiency

Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency

Tetrahydrobiopterin and PKU: Into the Future

Human hepatocyte transplantation corrects the inherited metabolic liver disorder arginase deficiency in mice

Rescue of the Functional Alterations of Motor Cortical Circuits in Arginase Deficiency by Neonatal Gene Therapy

Lethal phenotype in conditional late-onset arginase 1 deficiency in the mouse

Diabetes-induced vascular dysfunction involves arginase I

Cross-sectional multicenter study of patients with urea cycle disorders in the United States

Plasma arginine levels in arginase deficiency in the “real world”

Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database

Biochemical markers and neuropsychological functioning in distal urea cycle disorders

Long-term Survival of the Juvenile Lethal Arginase-deficient Mouse With AAV Gene Therapy

Hyperargininemia due to liver arginase deficiency

Arginases I and II: do their functions overlap?

Contrasting features of urea cycle disorders in human patients and knockout mouse models

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

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