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Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation UpdateFrequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)Bilateral symmetrical basal ganglia and thalamic lesions in children: an update (2015).Switch from Sodium Phenylbutyrate to Glycerol Phenylbutyrate Improved Metabolic Stability in an Adolescent with Ornithine Transcarbamylase DeficiencyA novel mutation in ornithine transcarbamylase gene causing mild intermittent hyperammonemiaA dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice.Improving long term outcomes in urea cycle disorders-report from the Urea Cycle Disorders ConsortiumBarriers to drug adherence in the treatment of urea cycle disorders: Assessment of patient, caregiver and provider perspectives.Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013.Efficacy and safety of i.v. sodium benzoate in urea cycle disorders: a multicentre retrospective studyAge and High-Fat Diet Effects on Glutamine Synthetase Immunoreactivity in Liver and Hippocampus and Recognition Memory in Mice.Urea Cycle Defects: Early-Onset Disease Associated with A208T Mutation in OTC Gene-Expanding the Clinical Phenotype.Hyperargininemia due to arginase I deficiency: the original patients and their natural history, and a review of the literature.Immunometabolism within the tuberculosis granuloma: amino acids, hypoxia, and cellular respiration.Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders--review and meta-analysis of observational studies published over more than 35 years.Modeling correction of severe urea cycle defects in the growing murine liver using a hybrid recombinant adeno-associated virus/piggyBac transposase gene delivery system.AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice.Clinical and mutation analysis of 24 Chinese patients with ornithine transcarbamylase deficiency.Living with Intoxication-Type Inborn Errors of Metabolism: A Qualitative Analysis of Interviews with Paediatric Patients and Their Parents.Ornithine Transcarbamylase Deficiency: If at First You Do Not Diagnose, Try and Try Again.The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.Biochemical markers and neuropsychological functioning in distal urea cycle disorders.Liver involvement in urea cycle disorders: a review of the literature.Workshop Proceedings: Streamlined Development of Safety Assessment Programs Supporting Orphan/Rare Diseases-Are We There Yet?Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.Maternal Genetic Disorders in Pregnancy.Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension
P2860
Q28081467-258BB947-8CBB-468A-A667-53403BDA0C9BQ28600855-33BAC262-C7C3-4289-B9E2-67E2466EDA53Q30984026-223479FE-9D93-4320-9B9D-9C24D443B503Q33554824-3F328530-7136-4C90-AB9C-68E78070F812Q36210311-3724B0BE-A261-47AF-9E5A-5A8EE4BA2D52Q36673956-880EF10B-1EB1-4589-BCF0-3F053275EC5CQ37038752-CAAC00E8-5487-4F66-9EB6-A492D2237C53Q37131504-B414979A-AB57-4F23-B207-DE3F95FA9655Q37189404-9C6D8BEA-27B8-433E-85EE-4E86828E9164Q37278890-C36C59E1-ADB7-41AA-AE82-AECB45FFE5EEQ37338343-8FC1CCE5-7811-4420-A6AF-C2DFECF147DCQ37651466-816AA7D8-CE36-4B68-ADE0-79B456A14F17Q38540418-161FEAA8-6DFD-4D64-87A7-3B2956C030FAQ38613635-9687BF31-66BF-41FB-8A74-761CAE14FF5BQ38658602-32B0474C-56D5-49FD-9E68-CAF9B4BA328BQ38957957-AF158138-6402-4636-A4AD-A11E4FF42281Q40297453-0DE789C2-3F17-4B53-A5ED-D6F2D0CDA43EQ40305756-B037F0C4-3F62-4593-9A1A-0449491C3C36Q42292017-D4A4C0EE-F726-4A77-AA76-CD677425B4C4Q47212816-963067AA-49A3-41AC-8D23-BC6FBB2A03A2Q48229176-8A0611EB-8809-47E0-BFAF-9E09191FC568Q49827796-70469CEB-D054-41F6-8181-A4E1D8882C21Q50103592-9DF66196-2C44-4691-A0EC-B54F1AC93D30Q50125209-3ECCFA77-C27A-4C91-ACFB-425BE7281B5AQ50506337-059517B5-7BBF-4DB0-9121-D5A47D8FD955Q54068377-B5F3E7F8-6C70-4E5B-809C-0FD046A7D7A8Q55245792-F3785DC4-0169-461F-AF85-D4C3D7D4EAB7Q58335877-B5C5CC3E-3D36-4859-B2C6-7A20F60E9315
P2860
description
2014 nî lūn-bûn
@nan
2014 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A longitudinal study of urea cycle disorders.
@ast
A longitudinal study of urea cycle disorders.
@en
A longitudinal study of urea cycle disorders.
@nl
type
label
A longitudinal study of urea cycle disorders.
@ast
A longitudinal study of urea cycle disorders.
@en
A longitudinal study of urea cycle disorders.
@nl
prefLabel
A longitudinal study of urea cycle disorders.
@ast
A longitudinal study of urea cycle disorders.
@en
A longitudinal study of urea cycle disorders.
@nl
P2093
P2860
P1476
A longitudinal study of urea cycle disorders.
@en
P2093
Jennifer Seminara
Mark L Batshaw
Marshall Summar
Members of the Urea Cycle Disorders Consortium
Mendel Tuchman
P2860
P304
P356
10.1016/J.YMGME.2014.08.001
P577
2014-08-10T00:00:00Z