The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
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Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD)Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland.Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations.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 studyDietary practices in isovaleric acidemia: A European survey.Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias.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.Argininosuccinic Acid Lyase Deficiency Missed by Newborn Screen.Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.Profile of sodium phenylbutyrate granules for the treatment of urea-cycle disorders: patient perspectives.Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorderThe phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.Dietary practices in propionic acidemia: A European survey.Development and Psychometric Evaluation of the MetabQoL 1.0: A Quality of Life Questionnaire for Paediatric Patients with Intoxication-Type Inborn Errors of Metabolism.Early neonatal Glutaric aciduria type I hidden by perinatal asphyxia: a case report.Food triggers and inherited metabolic disorders: a challenge to the pediatrician.Carbamoyl phosphate synthetase 1 deficiency diagnosed by whole exome sequencing.Impact of age at onset and newborn screening on outcome in organic acidurias.Organic acidurias in adults: late complications and management.Propionyl-CoA carboxylase - A review.Liver involvement in urea cycle disorders: a review of the literature.Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.Altered Redox Homeostasis in Branched-Chain Amino Acid Disorders, Organic Acidurias, and Homocystinuria.A 10-year-old girl with a fluctuating level of consciousness, ataxia and slurred speech.Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase
P2860
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P2860
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.
description
2015 nî lūn-bûn
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2015年の論文
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2015年学术文章
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2015年学术文章
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2015年学术文章
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2015年学术文章
@zh-hans
2015年学术文章
@zh-my
2015年学术文章
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2015年學術文章
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name
The phenotypic spectrum of org ...... t 1: the initial presentation.
@en
The phenotypic spectrum of org ...... t 1: the initial presentation.
@nl
type
label
The phenotypic spectrum of org ...... t 1: the initial presentation.
@en
The phenotypic spectrum of org ...... t 1: the initial presentation.
@nl
prefLabel
The phenotypic spectrum of org ...... t 1: the initial presentation.
@en
The phenotypic spectrum of org ...... t 1: the initial presentation.
@nl
P2093
P2860
P50
P1476
The phenotypic spectrum of org ...... t 1: the initial presentation.
@en
P2093
Alberto B Burlina
Alexander Laemmle
Angeles Garcia-Cazorla
Anil Jalan
Anupam Chakrapani
Brigitte Chabrol
Carlos Ortez
Christian Staufner
Daniela Karall
Diego Martinelli
P2860
P2888
P304
P356
10.1007/S10545-015-9839-3
P50
P577
2015-04-15T00:00:00Z