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Development of a robust 30-minute reverse-phase high pressure liquid chromatography method to measure amino acids using widely available equipment and its comparison to current clinical ion-exchange chromatography measurement

Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100868-100868, Article 100868

2022

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Neurological implications of urea cycle disorders

Journal of inherited metabolic disease, 2007-11, Vol.30 (6), p.865-879

2007

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Malignancy in Noonan syndrome and related disorders

Clinical genetics, 2015-12, Vol.88 (6), p.516-522

2015

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Design of an adaptive randomized clinical trial of intravenous citrulline for sickle cell pain crisis in the emergency department

Contemporary clinical trials communications, 2023-04, Vol.32, p.101077-101077, Article 101077

2023

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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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Assessing the Functional Characteristics of Synonymous and Nonsynonymous Mutation Candidates by Use of Large DNA Constructs

American journal of human genetics, 2007-04, Vol.80 (4), p.740-750

2007

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A novel small molecule approach for the treatment of propionic and methylmalonic acidemias

Molecular genetics and metabolism, 2021-05, Vol.133 (1), p.71-82

2021

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Neonatal Pulmonary Hypertension: Urea-Cycle Intermediates, Nitric Oxide Production, and Carbamoyl-Phosphate Synthetase Function

The New England journal of medicine, 2001-06, Vol.344 (24), p.1832-1838

2001

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The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation

Bone marrow transplantation (Basingstoke), 2005-06, Vol.35 (12), p.1155-1164

2005

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The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency

Molecular genetics and metabolism, 2006-09, Vol.89 (1), p.80-86

2006

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Recommendations for locus-specific databases and their curation

Human mutation, 2008, Vol.29 (1), p.2-5

2008

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Angiotensin converting enzyme gene polymorphism: Potential silencer motif and impact on progression in IgA nephropathy

Kidney international, 1996-02, Vol.49 (2), p.571-577

1996

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Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene

Gene, 2003-06, Vol.311, p.51-57

2003

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Current strategies for the management of neonatal urea cycle disorders

The Journal of pediatrics, 2001-01, Vol.138 (1), p.S30-S39

Summar, Marshall

2001

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Relationship Between Carbamoyl-Phosphate Synthetase Genotype and Systemic Vascular Function

Hypertension (Dallas, Tex. 1979), 2004-02, Vol.43 (2), p.186-191

2004

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Molecular genetic research into carbamoyl‐phosphate synthase I: Molecular defects and linkage markers

Journal of inherited metabolic disease, 1998-06, Vol.21 (S1), p.30-39

Summar, M. L.

1998

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Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I

Molecular genetics and metabolism, 2004-04, Vol.81, p.12-19

2004

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Connecting the dots between genes, biochemistry, and disease susceptibility: systems biology modeling in human genetics

Molecular genetics and metabolism, 2005-02, Vol.84 (2), p.104-111

2005

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Ethnic diversity in a critical gene responsible for glutathione synthesis

Free radical biology & medicine, 2003, Vol.34 (1), p.72-76

2003

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Alteration of transcriptional and post-transcriptional expression of gamma-glutamylcysteine synthetase by diethyl maleate

Radiation research, 1997-05, Vol.147 (5), p.592

1997

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Vascular endothelial growth factor is expressed in ovine pulmonary vascular smooth muscle cells in vitro and regulated by hypoxia and dexamethasone

Pediatric research, 1997-12, Vol.42 (6), p.744-749

1997

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Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy : an adult AIDS clinical trials group study

AIDS (London), 2005-09, Vol.19 (13), p.1341-1349

2005

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Proceedings of a Consensus Conference for the Management of Patients with Urea Cycle Disorders

The Journal of pediatrics, 2001-01, Vol.138 (1), p.S6-S10

2001

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Effective hemodialysis and hemofiltration driven by an extracorporeal membrane oxygenation pump in infants with hyperammonemia

The Journal of pediatrics, 1996-03, Vol.128 (3), p.379-382

1996

Volltextzugriff (PDF)

Population screening in a Druze community: the challenge and the reward

Genetics in medicine, 2008-12, Vol.10 (12), p.903-909

2008

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Development of a robust 30-minute reverse-phase high pressure liquid chromatography method to measure amino acids using widely available equipment and its comparison to current clinical ion-exchange chromatography measurement

Neurological implications of urea cycle disorders

Malignancy in Noonan syndrome and related disorders

Design of an adaptive randomized clinical trial of intravenous citrulline for sickle cell pain crisis in the emergency department

Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders

Assessing the Functional Characteristics of Synonymous and Nonsynonymous Mutation Candidates by Use of Large DNA Constructs

A novel small molecule approach for the treatment of propionic and methylmalonic acidemias

Neonatal Pulmonary Hypertension: Urea-Cycle Intermediates, Nitric Oxide Production, and Carbamoyl-Phosphate Synthetase Function

The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation

The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency

Recommendations for locus-specific databases and their curation

Angiotensin converting enzyme gene polymorphism: Potential silencer motif and impact on progression in IgA nephropathy

Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene

Current strategies for the management of neonatal urea cycle disorders

Relationship Between Carbamoyl-Phosphate Synthetase Genotype and Systemic Vascular Function

Molecular genetic research into carbamoyl‐phosphate synthase I: Molecular defects and linkage markers

Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I

Connecting the dots between genes, biochemistry, and disease susceptibility: systems biology modeling in human genetics

Ethnic diversity in a critical gene responsible for glutathione synthesis

Alteration of transcriptional and post-transcriptional expression of gamma-glutamylcysteine synthetase by diethyl maleate

Vascular endothelial growth factor is expressed in ovine pulmonary vascular smooth muscle cells in vitro and regulated by hypoxia and dexamethasone

Mitochondrial haplogroups and peripheral neuropathy during antiretroviral therapy : an adult AIDS clinical trials group study

Proceedings of a Consensus Conference for the Management of Patients with Urea Cycle Disorders

Effective hemodialysis and hemofiltration driven by an extracorporeal membrane oxygenation pump in infants with hyperammonemia

Population screening in a Druze community: the challenge and the reward

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