Results 91 to 100 of about 2,017,541 (209)
Acute pancreatitis in a patient with glutaric acidemia type II
The Turkish Journal of Pediatrics, 1997 We describe a two-year-old girl who presented with coma following an upper respiratory tract infection. Nonketotic hypoglycemia, metabolic acidosis and mild hyperammonemia were detected.
T Coşkun +4 more
doaj
Glutaric aciduria type 1 and neonatal screening: time to proceed—with caution [PDF]
, 2018 The new technology of tandem mass spectrometry is having a significant impact on the diagnostics of inborn metabolic errors. One of the most important aspects of this new technology is the possibility of recognising a whole class of disorders within a ...
Superti-Furga, Andrea
core
Neuroinflammation increases GABAergic tone and impairs cognitive and motor function in hyperammonemia by increasing GAT-3 membrane expression. Reversal by sulforaphane by promoting M2 polarization of microglia [PDF]
, 2016 BACKGROUND: Hyperammonemia induces neuroinflammation and increases GABAergic tone in the cerebellum which contributes to cognitive and motor impairment in hepatic encephalopathy (HE). The link between neuroinflammation and GABAergic tone remains unknown.
Alba Gonzalez-Usano +7 more
core +1 more source
Iranian Journal of Child Neurology, 2012 Organic acid occur as physiologic intermediates in variety of intracellular metabolic pathways, such as catabolism of aminoacid, mitochondrial β oxidation of fatty acids, tricarboxilic acid cycle, and cholestrol and fatty acid biosynthesis. The classical organic aciduria represent the pursuit of abnormalities of aminoacid degradation beyond deamination
openaire +1 more source
Egyptian Journal of Medical Human Genetics, 2014 Background: Organic acid disorders are a heterogeneous group of inborn errors of metabolism, in which organic acids accumulate in the body. They have high prevalence in Egypt because of a high rate of consanguineous marriages.
Dina A. Ghoraba +2 more
doaj +1 more source
Tandem Mass Spectrometry in Newborn Screening
, 2004 Since 1961 newborn screening for errors of metabolism (EM) has improved the diagnosis, treatment and outcome of newborns with an EM. Recently, advances in laboratory technology with tandem mass spectrometry (MS/MS) has increased the identification of ...
Banta-Wright, Sandra, Steiner, Robert
core +1 more source
Evaluation of neutropenia and neutrophilia in preterm infants [PDF]
, 2012 OBJECTIVE: Neutrophil counts are used routinely as part of the sepsis evaluation in newborn infants. In this article, we review the normal blood neutrophil concentrations and the clinical approach to neutropenia and neutrophilia in the neonatal period ...
Maheshwari, Akhil +2 more
core +1 more source
Iranian Journal of Child Neurology, 2012 Immidiate ManagementInfants and children with acute metabolic crisis require immediate treatment to prevent further acute deterioration and long-term sequelae.Early and appropriate treatment before confirmation of the diagnosis is life-saving.Eliminate intake of the precursors of possibly toxic metabolites.This applies most often to suspected inborn ...
openaire +1 more source
Beyond the Surface: Novel Therapy Approach for Pancreatitis in the Setting of CFTR Dysfunction
Case Reports in Gastrointestinal Medicine, Volume 2026, Issue 1, 2026.Objectives Despite cystic fibrosis transmembrane conductance regulator (CFTR) proteins being present throughout the entire body and organ systems, typical presentation of cystic fibrosis (CF) involves lung disease. We report a series of individuals that were referred to our CF clinic for evaluation following a diagnosis of chronic pancreatitis or acute
Brittany A. Wright +4 more
wiley +1 more source
Inborn errors of metabolism: a clinical overview [PDF]
, 1999 CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core +4 more sources