Pediatric liver transplantation for urea cycle disorders and organic acidemias: United Network for Organ Sharing data for 2002-2012. [PDF]
Liver Transpl, 2014 Perito ER +3 more
europepmc +2 more sources
Clinical practice: The management of hyperammonemia [PDF]
, 2018 Hyperammonemia is a life-threatening condition which can affect patients at any age. Elevations of ammonia in plasma indicate its increased production and/or decreased detoxification. The hepatic urea cycle is the main pathway to detoxify ammonia; it can
Häberle, Johannes
core
Hcfc1 and Ogt Mediate Zebrafish CNS Regeneration Through Hippo/Yap Signalling
Cell Proliferation, EarlyView.This work identifies Hcfc1 and Ogt as key regulators of zebrafish CNS regeneration through modulation of Hippo/Yap signalling. Loss of Hcfc1 or Ogt activity inhibition impairs regeneration, which is restored by Yap overexpression, revealing a new regulatory axis that enhances CNS regenerative capacity.
Priyanka P. Srivastava +9 more
wiley +1 more source
LABRAD : Vol 39, Issue 2 - December 2013 [PDF]
, 2013 Diagnosis of Inborn Errors of Metabolism in Pakistan Inherited Metabolic Disorders-Presenting as Metabolic Emergencies Role of Biochemical Genetics Laboratary in Evaluation of IEM Amino Acid Chromatography for the Diagnosis of Inborn Error of Metabolism ...
Aga Khan University Hospital, Karachi
core +1 more source
Hyperammonemia-induced toxicity for the developing central nervous system [PDF]
, 2007 In pediatric patients, hyperammonemia can be caused by various acquired or inherited disorders such as urea cycle deficiencies or organic acidemias. The brain is much more susceptible to the deleterious effects of ammonium during development than in ...
Braissant, O., Cagnon, L.
core +1 more source
RNA‐Based Therapies for Inherited Metabolic Disorders
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri +5 more
wiley +1 more source
ACUTE METABOLIC CRISIS TREATMENT PROTOCOL AT METHYLMALONIC ACIDEMIA
Педиатрическая фармакология, 2014 The article is dedicated to a pressing issue of pediatrics — diagnosis and treatment of an autosomal-recessive disease from the group of organic acidemias — methylmalonic acidemia.
S. I. Polyakova +3 more
doaj +1 more source
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: A retrospective observational study [PDF]
, 2016 BACKGROUND: Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficiency of N ...
Baruteau, J +22 more
core +1 more source
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in Xinjiang, China [PDF]
PeerJTo determine the disease spectrum and genetic characteristics of inborn errors of metabolism (IEM) in Xinjiang province in the northwest of China, 41,690 newborn babies were screening by tandem mass spectrometry from November 2018 to December 2021.
Jingying Zhu +4 more
doaj +2 more sources
Clinical Epidemiology and Global Health, 2021 Objective: To evaluate the diagnostic accuracy of a set of predefined biomarkers (index test) in diagnosing diseases targeted in expanded newborn screening (ENS) namely organic acidemias, fatty acid oxidation disorders, and amino acid disorders. Methods:
N.B. Mathur +3 more
doaj +1 more source