Results 21 to 30 of about 19,221 (119)

Identification of the iduronate-2-sulfatase proteome in wild-type mouse brain

Heliyon, 2019
Iduronate-2-sulfatase (IDS) is a lysosomal enzyme involved in the metabolism of the glycosaminoglycans heparan (HS) and dermatan (DS) sulfate. Mutations on IDS gene produce mucopolysaccharidosis II (MPS II), characterized by the lysosomal accumulation of
Carolina Cardona, Eliana Benincore, Natalia Pimentel, Luis H. Reyes, Camilo Patarroyo, Alexander Rodríguez-López, M. Martin-Rufian, Luis Alejandro Barrera, Carlos J. Alméciga-Díaz   +8 more
doaj   +1 more source

Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency

Orphanet Journal of Rare Diseases, 2018
Background Mitochondrial trifunctional protein (MTP) and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency are long-chain fatty acid oxidation disorders with particularly high morbidity and mortality.
Amelie S. Lotz-Havla, Wulf Röschinger, Katharina Schiergens, Katharina Singer, Daniela Karall, Vassiliki Konstantopoulou, Saskia B. Wortmann, Esther M. Maier   +7 more
doaj   +1 more source

Newborn Screening for SCID: Experience in Spain (Catalonia)

International Journal of Neonatal Screening, 2021
Newborn screening (NBS) for severe combined immunodeficiency (SCID) started in Catalonia in January-2017, being the first Spanish and European region to universally include this testing.
Ana Argudo-Ramírez, Andrea Martín-Nalda, Jose Manuel González de Aledo-Castillo, Rosa López-Galera, Jose Luis Marín-Soria, Sonia Pajares-García, Mónica Martínez-Gallo, Marina García-Prat, Roger Colobran, Jacques G. Riviere, Yania Quintero, Tatiana Collado, Antonia Ribes, Judit García-Villoria, Pere Soler-Palacín   +14 more
doaj   +1 more source

Phenylalanine and Tyrosine Metabolism Analysis in Heterozygotes for Phenylketonuria and in Healthy Individuals

Journal of Inborn Errors of Metabolism and Screening, 2015
Phenylketonuria (PKU) is an inherited metabolic disorder derived from a deficiency in the enzyme phenylalanine hydroxylase, which converts the amino acid phenylalanine (Phe) into tyrosine (Tyr).
Roseani Andrade MSc, Vaneisse Monteiro MSc, Cléber Cruz MSc, Carla Silva BS, Adriana Bastos MSc, Luiz Silva PhD   +5 more
doaj   +1 more source

Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles

Scientific Reports, 2022
Mucopolysaccharidosis IV A (MPS IVA) is a lysosomal disorder caused by mutations in the GALNS gene. Consequently, the glycosaminoglycans (GAGs) keratan sulfate and chondroitin 6-sulfate accumulate in the lysosomal lumen.
Andrés Felipe Leal, Javier Cifuentes, Carlos Emilio Torres, Diego Suárez, Valentina Quezada, Saúl Camilo Gómez, Juan C. Cruz, Luis H. Reyes, Angela Johana Espejo-Mojica, Carlos Javier Alméciga-Díaz   +9 more
doaj   +1 more source

Foetal Haemoglobin as a Marker of Bone Marrow Suppression Secondary to Anti-Kell Alloimmunisation

International Journal of Neonatal Screening, 2023
Anti-Kell alloimmunisation is a potentially severe minor blood group type incompatibility, not only as a cause of haemolytic disease of the foetus and newborn, but also due to the destruction of red blood cells (RBC) and mature form in the bone marrow ...
Rodrigo Alfredo Morales Painamil, José Manuel González de Aledo-Castillo, Marta Teresa-Palacio, Ana Argudo-Ramírez, Rosa M. López-Galera, Abraham J. Paredes-Fuentes, Victoria Aldecoa-Bilbao, Miguel Alsina-Casanova   +7 more
doaj   +1 more source

Sustaining benefits of nutritional therapy in young adults with phenylketonuria - A 2 year prospective study

Molecular Genetics and Metabolism Reports, 2020
Introduction: Phenylketonuria (PKU) is an inborn error of metabolism, which is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH). Life-long Phe-free diet impairs quality of life, especially in adolescents and young adults which take ...
Johannes Krämer
doaj   +1 more source

Characterization and expression of domains of Alphaherpesvirus bovine 1/5 envelope glycoproteins B in Komagataella phaffi

BMC Veterinary Research, 2023
Background Bovine herpes virus (BoHV 1 and BoHV-5) are the causative agents of infectious bovine rhinotracheitis (IBR). IBR is responsible for important economic losses in the cattle industry.
Juan Sebastián Quintero Barbosa, Heidy Yohana Triana Rojas, Janneth Gonzalez, Angela Johana Espejo-Mojica, Carlos Javier Alméciga Díaz, María Fernanda Gutierrez   +5 more
doaj   +1 more source

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

Molecular Genetics and Metabolism Reports, 2016
The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Wendy E. Heywood, Emily Bliss, Philippa Mills, Jale Yuzugulen, Gabriela Carreno, Peter T. Clayton, Francesco Muntoni, Viki C. Worthington, Silvia Torelli, Neil J. Sebire, Kevin Mills, Stephanie Grunewald   +11 more
doaj   +1 more source

Case-control study about the acceptance of Pegvaliase in Phenylketonuria

Molecular Genetics and Metabolism Reports, 2020
Introduction: Pegvaliase is a novel enzyme substitution therapy approved by the European Drug Administration (EDA) in May 2019 for the treatment of Phenylketonuria (PKU) in adults and children ≥16 years of age.
Johannes Krämer
doaj   +1 more source