Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories
Authors
Keywords
Metabolic acidosis, Hyperammonaemia, Organic acidaemias, Metabolic decompensation, Biochemical pathogenesis
Journal
Orphanet Journal of Rare Diseases
Volume 13, Issue 1, Pages -
Publisher
Springer Nature
Online
2018-12-06
DOI
10.1186/s13023-018-0963-7
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias
- (2018) Anupam Chakrapani et al. Orphanet Journal of Rare Diseases
- Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation
- (2017) Nicholas M. McCrory et al. JOURNAL OF PEDIATRICS
- Anaplerotic therapy in propionic acidemia
- (2017) Nicola Longo et al. MOLECULAR GENETICS AND METABOLISM
- Acute Illness Protocol for Fatty Acid Oxidation and Carnitine Disorders
- (2017) Saud H. Aldubayan et al. PEDIATRIC EMERGENCY CARE
- “Classical organic acidurias”: diagnosis and pathogenesis
- (2016) Guglielmo RD Villani et al. CLINICAL AND EXPERIMENTAL MEDICINE
- Methylmalonic and propionic acidemias
- (2016) Jamie L. Fraser et al. CURRENT OPINION IN PEDIATRICS
- Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study
- (2016) Vassili Valayannopoulos et al. Orphanet Journal of Rare Diseases
- Inborn Errors of Metabolism (Metabolic Disorders)
- (2016) G. M. Rice et al. PEDIATRICS IN REVIEW
- Recent advances in the treatment of hyperammonemia
- (2015) Simon Matoori et al. ADVANCED DRUG DELIVERY REVIEWS
- The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
- (2015) Stefan Kölker et al. JOURNAL OF INHERITED METABOLIC DISEASE
- The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
- (2015) Stefan Kölker et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Impact of age at onset and newborn screening on outcome in organic acidurias
- (2015) Jana Heringer et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Deconstructing Black Swans
- (2015) Nicholas Ah Mew et al. Advances in Neonatal Care
- Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
- (2014) Matthias R Baumgartner et al. Orphanet Journal of Rare Diseases
- Methylmalonic acidemia: A megamitochondrial disorder affecting the kidney
- (2014) Zsuzsanna K. Zsengellér et al. PEDIATRIC NEPHROLOGY
- Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters
- (2013) M. Dercksen et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation
- (2013) Stefan Kölker et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients
- (2013) Sarah C Grünert et al. Orphanet Journal of Rare Diseases
- Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures
- (2013) Paris Jafari et al. Orphanet Journal of Rare Diseases
- Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias
- (2013) Mathilde Nizon et al. Orphanet Journal of Rare Diseases
- Patients with organic acidaemias have an altered thiol status
- (2012) Heli Salmi et al. ACTA PAEDIATRICA
- Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?
- (2012) Tamaris Zwickler et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Ammonia toxicity to the brain
- (2012) Olivier Braissant et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Suggested guidelines for the diagnosis and management of urea cycle disorders
- (2012) Johannes Häberle et al. Orphanet Journal of Rare Diseases
- Chronic management and health supervision of individuals with propionic acidemia
- (2011) V. Reid Sutton et al. MOLECULAR GENETICS AND METABOLISM
- Acute management of propionic acidemia
- (2011) Kimberly A. Chapman et al. MOLECULAR GENETICS AND METABOLISM
- Natural history of propionic acidemia
- (2011) Loren Pena et al. MOLECULAR GENETICS AND METABOLISM
- Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency
- (2011) Johannes Häberle Therapeutics and Clinical Risk Management
- Amino acid metabolism in patients with propionic acidaemia
- (2010) Sabine Scholl-Bürgi et al. JOURNAL OF INHERITED METABOLIC DISEASE
- N-Carbamylglutamate in Emergency Management of Hyperammonemia in Neonatal Acute Onset Propionic and Methylmalonic Aciduria
- (2009) Luca Filippi et al. Neonatology
- Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria
- (2009) Yves de Keyzer et al. PEDIATRIC RESEARCH
- Hereditary and acquired diseases of acyl-coenzyme A metabolism
- (2008) Grant A Mitchell et al. MOLECULAR GENETICS AND METABOLISM
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started