Results 121 to 130 of about 36,711 (394)

Correction of congenital hyperbilirubinemia in homozygous Gunn rats by xenotransplantation of hamster livers [PDF]

, 1997
The homozygous Gunnj/jrat is an animal model for Crigler-Najjar syndrome in which the lack of the enzyme uridine diphosphoglucoronate-glucuronosyltransferase (UDP-GT) results in congenital unconjugated nonhemolytic hyperbilirubinemia. Because the binding
Asonuma, Branchereau, Celli, Cobourn, Esquivel, Esquivel, Groth, Heirwegh, Holzman, Kamada, Kashiwagi, Malatack, Medley, Moscioni, Ostrow, Reichen, Roy Chowdhury, Roy Chowdhury, Snyder, Starzl, Starzl, Starzl, Starzl, Starzl, Sutherland, Valdivia, Valdivia, Vroemen   +27 more
core   +1 more source

Vaccination strategies for people living with inborn errors of metabolism in Brazil

Jornal de Pediatria, 2023
Objective: Through a literature review, make recommendations regarding immunizations in people living with Inborn Error of Metabolism (IEM) in Brazil, assess the possible impact on metabolic decompensations after immunization, and if this specific ...
Barbara C.F. Ramos, Carolina S. Aranda, Rita S.B. Cardona, Ana Maria Martins, Dirceu Solé, Sue Ann C. Clemens, Ralf Clemens   +6 more
doaj  

Nouveautés radiologiques dans le dépistage et le diagnostic des erreurs innées du métabolisme [PDF]

, 2005
Les maladies héréditaires du métabolisme ont acquis une place de plus en plus importante dans la pathologie pédiatrique. Leur nombre ne cesse d’augmenter au fur et à mesure de la progression des connaissances en biologie cellulaire et des progrès ...
Boddaert, Nathalie, Brunelle, Francis, de Lonlay, Pascale, Mention, Karine, Nihoul-Fékété, Claire, Ribeiro, Maria, Touati, Guy, Valayanopoulos, Vassili   +7 more
core   +1 more source

Catching the Culprit: How Chorea May Signal an Inborn Error of Metabolism. [PDF]

Tremor Other Hyperkinet Mov (N Y), 2023
Ortigoza-Escobar JD.
europepmc   +1 more source

Interallelic complementation in an inborn error of metabolism: genetic heterogeneity in argininosuccinate lyase deficiency.

Proceedings of the National Academy of Sciences of the United States of America, 1984
We used complementation analysis as a probe for the detection of genetic heterogeneity within a single locus affected in a human disease, argininosuccinate lyase (L-argininosuccinate arginine-lyase, EC 4.3.2.1) deficiency.
R. Mcinnes, V. Shih, S. Chilton
semanticscholar   +1 more source

Maternal diabetes mellitus during pregnancy as a risk factor for strabismus and refractive errors in the offspring—A large‐scale national study

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective To investigate whether maternal diabetes during pregnancy is associated with increased risk of strabismus and refractive errors (RE) in their offspring. Methods This retrospective cohort study utilized electronic medical records from Clalit Health Services (CHS) in Israel, 2001–2023. Births were categorized by maternal diabetes type (
Nir Amitai, Tomer Kerman, Tamar Eshkoli, Ahed Imtirat, Amichai Raz, Itamar Ben Shitrit, Dor Marciano, Eyal Sheiner, Erez Tsumi   +8 more
wiley   +1 more source

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria [PDF]

, 2018
Inherited metabolic disorders are the cause of a small but significant number of sudden unexpected deaths in infancy. We report a girl who suddenly died at 11months of age, during an intercurrent illness.
Ballhausen, Diana, Bonafé, Luisa, Boulat, Olivier, Jakobs, Cornelis, Jequier Gygax, Marine, Meagher-Villemure, Kathleen, Roulet-Perez, Eliane, Salomons, Gajja, Superti-Furga, Andrea   +8 more
core  

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis [PDF]

, 2017
Selenium-binding protein 1 (SELENBP1) has been associated with several cancers, although its exact role is unknown. We show that SELENBP1 is a methanethiol oxidase (MTO), related to the MTO in methylotrophic bacteria, that converts methanethiol to H2O2 ...
Araiza, Renee S., Brouwer, Arjan P. M. de, Camp, Huub J. M. op den, Engelke, Udo F., Gilissen, Christian, Heuvel, Lambert van den, Lloyd, Kent C., Olbrich, Heike, Omran, Heymut, Oude Elberink, Marijn, Pol, Arjan, Renkema, G. Herma, Rodenburg, Richard J., Sass, Jörn Oliver, Schwab, K. Otfried, Schäfer, Hendrik, Sequeira, J. Silvia, Tangerman, Albert, Venselaar, Hanka, Wevers, Ron A., Winkel, Edwin G.   +20 more
core   +2 more sources

High Myopia: A Pointer of an Inborn Error of Metabolism. [PDF]

Cureus, 2022
Sahu SK, Behera JR, Kr J, Puramjai M, Gudu R, Dash AK, Rup AR, Patnaik S.   +7 more
europepmc   +1 more source

Inborn Errors of Metabolism: The Croonian Lectures Delivered Before the Royal College of Physicians of London, in June, 1908. [PDF]

, 1909

openalex   +1 more source