Results 51 to 60 of about 63,582 (298)

White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian, Tianjia Zhu, Hao Huang, Shavonne L. Massey, Mark P. Fitzgerald, Darshana Parikh, Arastoo Vossough, Ingo Helbig, Nicholas S. Abend   +8 more
wiley   +1 more source

Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth

Scientific Reports, 2023
The prognosis of phenylketonuria (PKU) is related to the quality of metabolic control all life-long. PKU treatment is based on a low-Phe diet, 6R-tetrahydrobiopterin (BH4) treatment for the BH4-responsive PKU patients or enzyme replacement therapy ...
Maurane Theron, Elise Jeannesson, Marie Canton, Farès Namour, Abderrahim Oussalah, François Feillet, Arnaud Wiedemann   +6 more
doaj   +1 more source

Cystinuria: an inborn cause of urolithiasis [PDF]

Orphanet Journal of Rare Diseases, 2012
Orphanet journal of rare diseases 7, 19 (2012).
Eggermann, Thomas, Venghaus, Andreas, Zerres, Klaus   +2 more
openaire   +4 more sources

Clinical pathways for inborn errors of metabolism: warranted and feasible [PDF]

, 2013
Contains fulltext : 118156.pdf (Publisher’s version ) (Open Access)Inborn errors of metabolism (IEMs) are known for their low prevalence and multidisciplinary care mostly founded on expert opinion.
van Kessel Imke N, van Kessel, Imke N., Bosch Annet M, Bosch, Annet M., Korndewal Marjolein J, Meutgeert Hanka, Hollak, Carla E. M., Kessel, I.N. van, Bosch, A.M., Janssen, M.C.H., Morava, E., Marjolein J Korndewal, Imke N van Kessel, Serwet Demirdas, Demirdas, Serwet, Klaren, Anja, Spronsen, F.J. van, Anja Klaren, Hollak, C.E.M., Margreet van Rijn, Rijn, M. van de, Carla EM Hollak, van Rijn Margreet, Meutgeert, Hanka, van Rijn, Margreet, Hanka Meutgeert, van Spronsen Francjan J, Klaren, A., Meutgeert, H., Dutch Working Grp, Korndewal, Marjolein J., Korndewal, M.J., null null, Demirdas, S., Klaren Anja, Francjan J van Spronsen, Annet M Bosch, Hollak Carla EM, van Spronsen, Francjan J., et al., Demirdas Serwet   +40 more
core   +3 more sources

Management of inborn errors of immunity in the genomic era

, 2022
Inborn errors of immunity are a group of rare diseases characterized by a wide variety of manifestations, including unusually severe infections, cancer susceptibility, and exaggerated inflammation that disrupts organ function.
ÖZEN, AHMET OĞUZHAN
core   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Improvement in the production of the human recombinant enzyme N-acetylgalactosamine-6-sulfatase (rhGALNS) in Escherichia coli using synthetic biology approaches

Scientific Reports, 2017
Previously, we demonstrated production of an active recombinant human N-acetylgalactosamine-6-sulfatase (rhGALNS) enzyme in Escherichia coli as a potential therapeutic alternative for mucopolysaccharidosis IVA.
Luis H. Reyes, Carolina Cardona, Luisa Pimentel, Alexander Rodríguez-López, Carlos J. Alméciga-Díaz   +4 more
doaj   +1 more source

An incidental finding in newborn screening leading to the diagnosis of a patient with ECHS1 mutations

Molecular Genetics and Metabolism Reports, 2020
Short-chain enoyl-CoA hydratase (ECHS1) is a mitochondrial beta-oxidation enzyme involved in the metabolism of acyl-CoA fatty acid esters, as well as in valine metabolism.
S. Pajares, R.M. López, L. Gort, A. Argudo-Ramírez, J.L. Marín, J.M. González de Aledo-Castillo, J. García-Villoria, J.A. Arranz, M. Del Toro, F. Tort, O. Ugarteburu, M.D. Casellas, R. Fernández, A. Ribes   +13 more
doaj   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Citrulline in the management of patients with urea cycle disorders

Orphanet Journal of Rare Diseases, 2023
Background Treatment recommendations for urea cycle disorders (UCDs) include supplementation with amino acids involved in the urea cycle (arginine and/or citrulline, depending on the enzyme deficiency), to maximize ammonia excretion through the urea ...
Apolline Imbard, Juliette Bouchereau, Jean-Baptiste Arnoux, Anaïs Brassier, Manuel Schiff, Claire-Marine Bérat, Clément Pontoizeau, Jean-François Benoist, Constant Josse, François Montestruc, Pascale de Lonlay   +10 more
doaj   +1 more source