相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria
Ruqaiah AlTassan et al.
EUROPEAN JOURNAL OF MEDICAL GENETICS (2018)
Biochemical markers and neuropsychological functioning in distal urea cycle disorders
Susan E. Waisbren et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
Induction of Nitric-Oxide Metabolism in Enterocytes Alleviates Colitis and Inflammation-Associated Colon Cancer
Noa Stettner et al.
CELL REPORTS (2018)
Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension
Jordan Kho et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2018)
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism
Natrujee Wiwattanadittakul et al.
MOLECULAR GENETICS AND METABOLISM (2018)
Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria
Scott N. Ashley et al.
MOLECULAR GENETICS AND METABOLISM (2018)
Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer
Julien Baruteau et al.
NATURE COMMUNICATIONS (2018)
Expanding the phenotype in argininosuccinic aciduria: need for new therapies
Julien Baruteau et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
Liver involvement in urea cycle disorders: a review of the literature
Adrien Bigot et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
Liver transplantation may prevent neurodevelopmental deterioration in high-risk patients with urea cycle disorders
Jun Kido et al.
PEDIATRIC TRANSPLANTATION (2017)
'SNO'-Storms Compromise Protein Activity and Mitochondrial Metabolism in Neurodegenerative Disorders
Tomohiro Nakamura et al.
TRENDS IN ENDOCRINOLOGY AND METABOLISM (2017)
Polish Experience with Liver Transplantation and Post-Transplant Outcomes in Children with Urea Cycle Disorders
Edyta Szymanska et al.
ANNALS OF TRANSPLANTATION (2017)
Therapeutic effects of inorganic nitrate and nitrite in cardiovascular and metabolic diseases
S. A. Omar et al.
JOURNAL OF INTERNAL MEDICINE (2016)
Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders Consortium
Susan E. Waisbren et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2016)
The yeast ζ-crystallin/NADPH:quinone oxidoreductase (Zta1p) is under nutritional control by the target of rapamycin pathway and is involved in the regulation of argininosuccinate lyase mRNA half-life
Eva Crosas et al.
FEBS JOURNAL (2015)
Atrioventricular block in siblings with argininosuccinic aciduria
Ozgur Ulas Ozcan et al.
INTERNATIONAL JOURNAL OF CARDIOLOGY (2015)
Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria
Liyan Hu et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2015)
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Stefan Koelker et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2015)
Inorganic nitrite and nitrate: evidence to support consideration as dietary nutrients
Nathan S. Bryan et al.
NUTRITION RESEARCH (2015)
Argininosuccinate lyase in enterocytes protects from development of necrotizing enterocolitis
M. H. Premkumar et al.
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY (2014)
Mutations and Polymorphisms in the Human Argininosuccinate Lyase (ASL) Gene
Cecile Balmer et al.
HUMAN MUTATION (2014)
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
Corinne M. Rueegger et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
Clinical evidence demonstrating the utility of inorganic nitrate in cardiovascular health
V. Kapil et al.
NITRIC OXIDE-BIOLOGY AND CHEMISTRY (2014)
Ammonia toxicity to the brain
Olivier Braissant et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2013)
The incidence of urea cycle disorders
Marshall L. Summar et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Ammonia triggers neuronal disinhibition and seizures by impairing astrocyte potassium buffering
Vinita Rangroo Thrane et al.
NATURE MEDICINE (2013)
Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria
Sandesh C. S. Nagamani et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Argininosuccinate lyase deficiency
Sandesh C. S. Nagamani et al.
GENETICS IN MEDICINE (2012)
Creatine metabolism in urea cycle defects
Sara Boenzi et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 - From screening laboratory results to treatment, follow-up and quality assurance
Peter Burgard et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
Early Clinical Manifestations and Eating Patterns in Patients with Urea Cycle Disorders
Thatjana Gardeitchik et al.
JOURNAL OF PEDIATRICS (2012)
A randomized controlled trial to evaluate the effects of high-dose versus low-dose of arginine therapy on hepatic function tests in argininosuccinic aciduria
Sandesh C. S. Nagamani et al.
MOLECULAR GENETICS AND METABOLISM (2012)
Suggested guidelines for the diagnosis and management of urea cycle disorders
Johannes Haeberle et al.
ORPHANET JOURNAL OF RARE DISEASES (2012)
Requirement of argininosuccinate lyase for systemic nitric oxide production
Ayelet Erez et al.
NATURE MEDICINE (2011)
Epilepsy and Argininosuccinic Aciduria
D. Grioni et al.
NEUROPEDIATRICS (2011)
Clinical and biochemical characteristics of patients with urea cycle disorders in a developing country
Isabel Ibarra-Gonzalez et al.
CLINICAL BIOCHEMISTRY (2010)
Neurotrichosis: Hair-shaft Abnormalities associated with Neurological Diseases
David L. Coulter et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)
Inorganic nitrate and the cardiovascular system
V. Kapil et al.
HEART (2010)
Long-term outcome of patients with argininosuccinate lyase deficiency diagnosed by newborn screening in Austria
S. Mercimek-Mahmutoglu et al.
MOLECULAR GENETICS AND METABOLISM (2010)
Ammonia toxicity to the brain: Effects on creatine metabolism and transport and protective roles of creatine
Olivier Braissant
MOLECULAR GENETICS AND METABOLISM (2010)
Experience with the treatment of argininosuccinic aciduria during pregnancy
L. Reid et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2009)
Systemic hypertension in two patients with ASL deficiency: A result of nitric oxide deficiency?
Nicola Brunetti-Pierri et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Argininosuccinate lyase deficiency: Longterm outcome of 13 patients detected by newborn screening
C. Ficicioglu et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Hereditary urea cycle diseases in Finland
Paivi Keskinen et al.
ACTA PAEDIATRICA (2008)
Ammonium alters creatine transport and synthesis in a 3D culture of developing brain cells, resulting in secondary cerebral creatine deficiency
Olivier Braissant et al.
EUROPEAN JOURNAL OF NEUROSCIENCE (2008)
Living related liver transplant in a patient with argininosuccinic aciduria and cirrhosis: Metabolic follow-up
Michael Marble et al.
JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION (2008)
Frequency and spectrum of genomic integration of recombinant adeno-associated virus serotype 8 vector in neonatal mouse liver
Katsuya Inagaki et al.
JOURNAL OF VIROLOGY (2008)
The nitrate-nitrite-nitric oxide pathway in physiology and therapeutics
Jon O. Lundberg et al.
NATURE REVIEWS DRUG DISCOVERY (2008)
Liver transplantation for argininosuccinic aciduria: Clinical, biochemical, and metabolic outcome
Tanya Newnham et al.
LIVER TRANSPLANTATION (2008)
Usefulness of magnetic resonance spectroscopy in urea cycle disorders
Emmanuel Roze et al.
PEDIATRIC NEUROLOGY (2007)
Quebec neonatal mass urinary screening programme: From micromolecules to macromolecules
C. Auray-Blais et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Argininosuccinate lyase deficiency:: Mutational spectrum in Italian patients and identification of a novel ASL pseudogene
Eva Trevisson et al.
HUMAN MUTATION (2007)
High cerebral guanidinoacetate and variable creatine concentrations in argininosuccinate synthetase and lyase deficiency: Implications for treatment?
F. J. van Spronsen et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Inefficient spin trapping of superoxide in the presence of nitric-oxide: Implications for studies on nitric-oxide synthase uncoupling
Marc Pignitter et al.
FREE RADICAL BIOLOGY AND MEDICINE (2006)
Cerebral 1H MR spectroscopy showing elevation of brain guanidino acetate in argininosuccinate lyase deficiency
PE Sijens et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Successful liver transplantation for argininosuccinate lyase deficiency (ASLD)
E Robberecht et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Quantifying the L-arginine paradox in vivo
N Vukosavljevic et al.
MICROVASCULAR RESEARCH (2006)
Molecular mechanisms of the alterations in NMDA receptor-dependent long-term potentiation in hyperammonemia
P Monfort et al.
METABOLIC BRAIN DISEASE (2005)
Interaction of the endothelial nitric oxide synthase with the CAT-1 arginine transporter enhances NO release by a mechanism not involving arginine transport
CY Li et al.
BIOCHEMICAL JOURNAL (2005)
Nitric oxide, cell signaling and cell death
GA Blaise et al.
TOXICOLOGY (2005)
Problems in the management of urea cycle disorders
B Wilcken
MOLECULAR GENETICS AND METABOLISM (2004)
Ammonia toxicity to the brain and creatine
C Bachmann et al.
MOLECULAR GENETICS AND METABOLISM (2004)
Nitric oxide in gastrointestinal health and disease
V Shah et al.
GASTROENTEROLOGY (2004)
Guanidinoacetate and creatine/creatinine levels in controls and patients with urea cycle defects
A Arias et al.
MOLECULAR GENETICS AND METABOLISM (2004)
Phosphorylation of threonine 497 in endothelial nitric-oxide synthase coordinates the coupling of L-arginine metabolism to efficient nitric oxide production
MI Lin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Differential effect of nitric oxide on glutathione metabolism and mitochondrial function in astrocytes and neurones: implications for neuroprotection/neurodegeneration?
ME Gegg et al.
JOURNAL OF NEUROCHEMISTRY (2003)
Methyl group deficiency and guanidino production in Uremia
BD Cohen
MOLECULAR AND CELLULAR BIOCHEMISTRY (2003)
Progressive liver fibrosis in late-onset argininosuccinate lyase deficiency
T Mori et al.
PEDIATRIC AND DEVELOPMENTAL PATHOLOGY (2002)
Clinical, enzymatic, and molecular genetic characterization of a biochemical variant type of argininosuccinic aciduria: prenatal and postnatal diagnosis in five unrelated families
WJ Kleijer et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2002)
Mutational analysis of duck δ2 crystallin and the structure of an inactive mutant with bound substrate provide insight into the enzymatic mechanism of argininosuccinate lyase
LM Sampaleanu et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)
Mechanisms of hyperammonemia
C Bachmann
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2002)
Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey
C Dionisi-Vici et al.
JOURNAL OF PEDIATRICS (2002)
Two novel mutations (E86A, R113W) in argininosuccinate lyase deficiency and evidence for highly variable splicing of the human argininosuccinate lyase gene
M Linnebank et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2000)
Incidence of inborn errors of metabolism in British Columbia, 1969-1996
DA Applegarth et al.
PEDIATRICS (2000)