Results 21 to 30 of about 174,613,300 (296)

Adenosine kinase deficiency presenting with tortuous cervical arteries: A risk factor for recurrent stroke

JIMD Reports, 2021
Adenosine kinase (ADK) deficiency is a very rare inborn error of methionine and adenosine metabolism. It is characterized by developmental delay, hypotonia, epilepsy, facial dysmorphism, failure to thrive, transient liver dysfunction with cholestasis ...
José A. Paz, Emilia K. Embiruçu, Clarissa Bueno, Rafaela C. C. L. Ferreira, Fernanda S. Oliveira, Ane S. S. Pereira, Ida V. D. Schwartz, Anderson R. B. Paiva, Leandro T. Lucato, Fernando Kok   +9 more
doaj   +1 more source

Identification and characterization of an inborn error of metabolism caused by dihydrofolate reductase deficiency. [PDF]

Am J Hum Genet, 2011
Item does not contain fulltextDihydrofolate reductase (DHFR) is a critical enzyme in folate metabolism and an important target of antineoplastic, antimicrobial, and antiinflammatory drugs.
Banka S, Blom HJ, Walter J, Aziz M, Urquhart J, Clouthier CM, Rice GI, de Brouwer AP, Hilton E, Vassallo G, Will A, Smith DE, Smulders YM, Wevers RA, Steinfeld R, Heales S, Crow YJ, Pelletier JN, Jones S, Newman WG.   +19 more
europepmc   +2 more sources

Inborn error of metabolism screening in neonates

National Journal of Physiology, Pharmacy and Pharmacology, 2019
Inborn errors of metabolism belong to heterogeneous group of disorders which cause a number of morbidities and mortality in pediatric population and come under the class of genetic rare diseases.
Preeti Sharma, Shivani Gupta, Pradeep Kumar, Rachna Sharma, Mahapatra T K, Gaurav Gupta   +5 more
doaj   +1 more source

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

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +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

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

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

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 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