Results 21 to 30 of about 25,995 (351)

Analysis of readability of the top web searches for pediatric inborn errors of fatty acid metabolism. [PDF]

Mol Genet Metab Rep
Sawyer K, Miller W, Popp C, Strege C, Eide C, Tolar J.   +5 more
europepmc   +2 more sources

Congenital hyperinsulinism in clinical practice: From biochemical pathophysiology to new monitoring techniques

Frontiers in Pediatrics, 2022
Congenital hyperinsulinism comprises a group of diseases characterized by a persistent hyperinsulinemic hypoglycemia, due to mutation in the genes involved in the regulation of insulin secretion.
Mariangela Martino, Jacopo Sartorelli, Vincenza Gragnaniello, Alberto Burlina   +3 more
doaj   +1 more source

A Case of Consanguinity

Global Pediatric Health, 2022
A newborn of unknown gestational age and unknown chronological age was admitted to the neonatal intensive care unit after presenting to the emergency department for evaluation and concern for neglect.
Carla Brown MD, Paige Jones-Brooks BS, Gwenevere White MD, Zackary Shearer MD, Megan Baber DO   +4 more
doaj   +1 more source

Citrullinemia and Hyperglycinemia Presenting with Seizures - Case Report of a 4 Day Old Baby

Asian Journal of Medical Sciences, 2013
Inborn errors of amino acid metabolism (IEM) are of concern in India, the spectrum being wide, varied and poorly diagnosed. Since aggregate incidence of inborn errors of metabolism is relatively high, in countries such as India, a high degree of ...
Moushumi Lodh
doaj   +1 more source

The neuropsychiatry of inborn errors of metabolism [PDF]

Journal of Inherited Metabolic Disease, 2013
AbstractA number of metabolic disorders that affect the central nervous system can present in childhood, adolescence or adulthood as a phenocopy of a major psychiatric syndrome such as psychosis, depression, anxiety or mania. An understanding and awareness of secondary syndromes in metabolic disorders is of great importance as it can lead to the early ...
Walterfang, M, Bonnot, O, Mocellin, R, Velakoulis, D   +3 more
openaire   +3 more sources

A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders

Frontiers in Neurology, 2020
Inherited metabolic diseases or inborn errors of metabolism frequently manifest with both hyperkinetic (dystonia, chorea, myoclonus, ataxia, tremor, etc.) and hypokinetic (rigid-akinetic syndrome) movement disorders. The diagnosis of these diseases is in
Juan Darío Ortigoza-Escobar
doaj   +1 more source

Clinical pathways for inborn errors of metabolism: warranted and feasible

Orphanet Journal of Rare Diseases, 2013
Inborn errors of metabolism (IEMs) are known for their low prevalence and multidisciplinary care mostly founded on expert opinion. Clinical pathways are multidisciplinary tools to organise care which provide a clear route to the best care and improve ...
Demirdas Serwet, van Kessel Imke N, Korndewal Marjolein J, Hollak Carla EM, Meutgeert Hanka, Klaren Anja, van Rijn Margreet, van Spronsen Francjan J, Bosch Annet M   +8 more
doaj   +1 more source

A rare inborn error of metabolism masquerading as meningitis

Medical Journal of Dr. D.Y. Patil University, 2016
We hereby describe a 7-month-old female baby, born to first-degree cousins, who was initially diagnosed as meningitis based on the features of seizures and dystonia with fever.
Madhumita Nandi, Sumantra Sarkar, Tapan Dhibar   +2 more
doaj   +1 more source

Identification of mutations in Malaysian patients with argininosuccinate lyase (ASL) deficiency

Molecular Genetics and Metabolism Reports, 2019
Argininosuccinate lyase (ASL) deficiency impairs the function of the urea cycle that detoxifies blood ammonia in the body. Mutation that occurs in the ASL gene is the cause of occurrence of ASL deficiency (ASLD).
Ernie Zuraida Ali, Yusnita Yakob, Lock Hock Ngu   +2 more
doaj   +1 more source

Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other

Metabolites, 2022
In inborn errors of metabolism, such as amino acid breakdown disorders, loss of function mutations in metabolic enzymes within the catabolism pathway lead to an accumulation of the catabolic intermediate that is the substrate of the mutated enzyme.
Namgyu Lee, Dohoon Kim
doaj   +1 more source