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。Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision
Patrick Forny et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2021)
Severe anemia in patients with Propionic acidemia is associated with branched-chain amino acid imbalance
Sinziana Stanescu et al.
ORPHANET JOURNAL OF RARE DISEASES (2021)
Δ1-Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder
Clara Marco-Marin et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2020)
Branched-chain α-ketoacid dehydrogenase deficiency (maple syrup urine disease): Treatment, biomarkers, and outcomes
Kevin A. Strauss et al.
MOLECULAR GENETICS AND METABOLISM (2020)
Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach
H. A. Haijes et al.
ORPHANET JOURNAL OF RARE DISEASES (2020)
Proline Metabolism in Cell Regulation and Cancer Biology: Recent Advances and Hypotheses
James M. Phang
ANTIOXIDANTS & REDOX SIGNALING (2019)
Decreased plasma L-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment
Femke Molema et al.
MOLECULAR GENETICS AND METABOLISM (2019)
Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications
Hanneke A. Haijes et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2019)
Quantitative Analysis of the Whole-Body Metabolic Fate of Branched-Chain Amino Acids
Michael D. Neinast et al.
CELL METABOLISM (2019)
Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review
Nishitha R. Pillai et al.
MOLECULAR GENETICS AND METABOLISM (2019)
Acute pediatric hyperammonemia: current diagnosis and management strategies
Nadia Savy et al.
HEPATIC MEDICINE-EVIDENCE AND RESEARCH (2018)
Anaplerotic therapy in propionic acidemia
Nicola Longo et al.
MOLECULAR GENETICS AND METABOLISM (2017)
Propionyl-CoA carboxylase - A review
Parith Wongkittichote et al.
MOLECULAR GENETICS AND METABOLISM (2017)
Plasma Amino Acid Concentrations Predict Mortality in Patients with End-Stage Liver Disease
Benedict Kinny-Koester et al.
PLOS ONE (2016)
Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters
M. Dercksen et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2014)
Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia
Tamaris Zwickler et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Matthias R. Baumgartner et al.
ORPHANET JOURNAL OF RARE DISEASES (2014)
Glutamate: a truly functional amino acid
John T. Brosnan et al.
AMINO ACIDS (2013)
Amino acid metabolism in patients with propionic acidaemia
Sabine Scholl-Buergi et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine
Diego Martinelli et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2012)
Acute hyperammonemia activates branched-chain amino acid catabolism and decreases their extracellular concentrations: different sensitivity of red and white muscle
Milan Holecek et al.
AMINO ACIDS (2011)
Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia
Sabine Scholl-Buergi et al.
AMINO ACIDS (2010)
Amino acids: metabolism, functions, and nutrition
Guoyao Wu
AMINO ACIDS (2009)
Acrodermatitis enteropathica-like syndrome secondary to branched-chain amino acid deficiency in inborn errors of metabolism
Yesim Oeztuerk
PEDIATRIC DERMATOLOGY (2008)
Interorgan amino acid exchange in humans: consequences for arginine and citrulline metabolism
Marcel C. G. van de Poll et al.
AMERICAN JOURNAL OF CLINICAL NUTRITION (2007)
Metabolic changes associated with hyperammonemia in patients with propionic acidemia
Heather R. Filipowicz et al.
MOLECULAR GENETICS AND METABOLISM (2006)
Anaplerotic molecules: Current and future
Henri Brunengraber et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Branched-chain amino acids: Enzyme and substrate regulation
JT Brosnan et al.
JOURNAL OF NUTRITION (2006)
Hyperammonemia with reduced ornithine, citrulline, arginine and proline:: a new inborn error caused by a mutation in the gene encoding Δ1-pyrroline-5-carboxylate synthase
MR Baumgartner et al.
HUMAN MOLECULAR GENETICS (2000)
Glutamate, at the interface between amino acid and carbohydrate metabolism
JT Brosnan
JOURNAL OF NUTRITION (2000)
The glutamine paradox in a neonate with propionic acidaemia and severe hyperammonaemia
L Ierardi-Curto et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2000)
分享论文
