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。Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders
Nicola Longo et al.
MOLECULAR GENETICS AND METABOLISM (2021)
Ornithine Transcarbamylase - From Structure to Metabolism: An Update
Morgane Couchet et al.
FRONTIERS IN PHYSIOLOGY (2021)
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan
Jun Kido et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2021)
OTC deficiency in females: Phenotype-genotype correlation based on a 130-family cohort
Stephanie Gobin-Limballe et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2021)
Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys
Julien Baruteau et al.
MOLECULAR THERAPY-METHODS & CLINICAL DEVELOPMENT (2021)
Evaluation of neurocognitive function of prefrontal cortex in ornithine transcarbamylase deficiency
Afrouz Anderson et al.
MOLECULAR GENETICS AND METABOLISM (2020)
A mutation-independent CRISPR-Cas9-mediated gene targeting approach to treat a murine model of ornithine transcarbamylase deficiency
Lili Wang et al.
SCIENCE ADVANCES (2020)
Retrospective evaluation of 85 patients with urea cycle disorders: one center experience, three new mutations
Ozlem Saritas Nakip et al.
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM (2020)
Clinical and molecular characteristics of 69 Chinese patients with ornithine transcarbamylase deficiency
Deyun Lu et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and number of hyperammonemic events
Corinna Buerger et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2019)
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disordersA successful strategy for clinical research of rare diseases
Roland Posset et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2019)
Urea cycle disorders-update
Shirou Matsumoto et al.
JOURNAL OF HUMAN GENETICS (2019)
Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
Johannes Haberle et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2019)
Challenges in diagnosing and managing adult patients with urea cycle disorders
Karolina M. Stepien et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2019)
Perspectives on urea cycle disorder management: Results of a clinician survey
Gregory M. Enns et al.
MOLECULAR GENETICS AND METABOLISM (2019)
Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders
Jochen Meyburg et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
Targeted mRNA Therapy for Ornithine Transcarbamylase Deficiency
Mary G. Prieve et al.
MOLECULAR THERAPY (2018)
Liver involvement in urea cycle disorders: a review of the literature
Adrien Bigot et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects
Julien Baruteau et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2017)
Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)
Alexander Laemmle et al.
PLOS ONE (2016)
Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update
Ljubica Caldovic et al.
JOURNAL OF GENETICS AND GENOMICS (2015)
Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients
Anais Brassier et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
Significant Hepatic Involvement in Patients with Ornithine Transcarbamylase Deficiency
Renata C. Gallagher et al.
JOURNAL OF PEDIATRICS (2014)
A longitudinal study of urea cycle disorders
Mark L. Batshaw et al.
MOLECULAR GENETICS AND METABOLISM (2014)
Investigating neurological deficits in carriers and affected patients with ornithine transcarbamylase deficiency
Courtney Sprouse et al.
MOLECULAR GENETICS AND METABOLISM (2014)
Dietary management of urea cycle disorders: European practice
S. Adam et al.
MOLECULAR GENETICS AND METABOLISM (2013)
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium
Jennifer Seminara et al.
MOLECULAR GENETICS AND METABOLISM (2010)
High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH
Oleg A. Shchelochkov et al.
MOLECULAR GENETICS AND METABOLISM (2009)
Hereditary urea cycle diseases in Finland
Paivi Keskinen et al.
ACTA PAEDIATRICA (2008)
Diagnosis, symptoms, frequency and mortality of 260 patients with urea cycle disorders from a 21-year, multicentre study of acute hyperammonaemic episodes
Marshall L. Summar et al.
ACTA PAEDIATRICA (2008)
Analysis of mRNA transcripts improves the success rate of molecular genetic testing in OTC deficiency
Katharina Engel et al.
MOLECULAR GENETICS AND METABOLISM (2008)
Neurological implications of urea cycle disorders
A. L. Gropman et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Survival after treatment with phenylacetate and benzoate for urea-cycle disorders
Gregory M. Enns et al.
NEW ENGLAND JOURNAL OF MEDICINE (2007)
The role of liver transplantation in urea cycle disorders
JV Leonard et al.
MOLECULAR GENETICS AND METABOLISM (2004)
Fatal systemic inflammatory response syndrome in a ornithine transcarbamylase deficient patient following adenoviral gene transfer
SE Raper et al.
MOLECULAR GENETICS AND METABOLISM (2003)
Inborn errors of metabolism in the Italian pediatric population: A national retrospective survey
C Dionisi-Vici et al.
JOURNAL OF PEDIATRICS (2002)
分享论文
