Results 101 to 110 of about 167,513,957 (289)

Metabolic interplay between peroxisomes and other subcellular organelles including mitochondria and the endoplasmic reticulum [PDF]

, 2016
Peroxisomes are unique subcellular organelles which play an indispensable role in several key metabolic pathways which include: (1.) etherphospholipid biosynthesis; (2.) fatty acid beta-oxidation; (3.) bile acid synthesis; (4.) docosahexaenoic acid (DHA)
Ronald J. A. Wanders, Waterham, Hans R., Wanders, Ronald J. A., Ronald J. A. Wanders, Ronald J.A. Wanders, Sacha eFerdinandusse, Ferdinandusse, Sacha, Sacha Ferdinandusse, Hans R. Waterham   +8 more
core   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Finding My Path: Listening, Learning, and Leading in Rare Disease: The 2025 Hower Award

Annals of the Child Neurology Society, EarlyView.
Andrea Gropman
wiley   +1 more source

Treatment of inborn errors of metabolism

Jornal de Pediatria, 2008
To describe the current state of treatment for disorders of intermediate metabolism (primarily of amino acids, urea cycle and organic acids) and for diseases related to two subcellular organelles (lysosomes and peroxisomes).In covering the treatment of disorders of intermediate metabolism, priority was given to the most important methods for managing ...
Schwartz, Ida Vanessa Doederlein, Souza, Carolina Fischinger Moura de, Giugliani, Roberto   +2 more
openaire   +3 more sources

Neonatal seizures: Advances in diagnosis and management

Epilepsia Open, EarlyView.
Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz, Ronit M. Pressler, Eli M. Mizrahi   +2 more
wiley   +1 more source

Plasma C24:0- and C26:0-lysophosphatidylcholines are reliable biomarkers for the diagnosis of peroxisomal β-oxidation disorders

Journal of Lipid Research
The gold-standard diagnostic test for peroxisomal disorders (PDs) is plasma concentration analysis of very long-chain fatty acids (VLCFAs). However, this method’s time-consuming nature and limitations in cases which present normal VLCFA levels ...
Blai Morales-Romero, José Manuel González de Aledo-Castillo, Cristina Fernández Sierra, Carmen Martínez Carreira, Carles Zaragoza Bonet, Rosa Fernández Bonifacio, Maria Antònia Caro Miró, Ana Argudo-Ramírez, Rosa María López Galera, Judit García-Villoria   +9 more
doaj   +1 more source

Occasional seizures, epilepsy, and inborn errors of metabolism

, 2014
Seizures are a common paediatric problem, with inborn errors of metabolism being a rare underlying aetiology. The clinical presentation of inborn errors of metabolism is often associated with other neurological symptoms, such as hypotonia, movement ...
Dulac, Olivier, Gataullina, Svetlana, Gataullina, S., Wolf, N.I., Dulac, O., Plecko, B., Wolf, Nicole I, Plecko, Barbara   +7 more
core   +1 more source

Integration of genomics and metabolomics for prioritization of rare disease variants: a 2018 literature review [PDF]

, 2018
Many inborn errors of metabolism (IEMs) are amenable to treatment; therefore, early diagnosis and treatment is imperative. Despite recent advances, the genetic basis of many metabolic phenotypes remains unknown.
Engelke, U.F., Graham, Emma, Kluijtmans, Leo A. J., Lee, Jessica, Tarailo-Graovac, M., Matthews, A., Mostafavi, Sara, Tang, Jeffrey, Tang, J., Engelke, Udo, Wasserman, Wyeth W., Wasserman, W.W., Tarailo-Graovac, Maja, Lee, J., Kluijtmans, L.A.J., Price, Magda, Price, M., Mostafavi, S., Graham, E., Wevers, Ron A., Matthews, Allison, van Karnebeek, Clara D. M., Karnebeek, C.D. van, Wevers, R.A.   +23 more
core   +2 more sources

Prenatal betamethasone–postnatal N‐methyl‐D‐aspartic acid model of spasms: Update on mechanisms and treatments

Epilepsia Open, EarlyView.
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Kayla Vieira, Antonia Schonwald, Chian‐Ru Chern, Kamya Shah, Jana Velíšková, Libor Velíšek   +5 more
wiley   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source