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Autor:
Hans R. Waterham, Ronald J.A. Wanders, Anneloor L.M.A. ten Asbroek, Mark J. Buijs, Margreet A E M Wagenmakers, Elise A. Ferreira, Camiel J. F. Boon, Marion M.M.G. Brands, Clara D.M. van Karnebeek, Arthur A.B. Bergen, C. Timmer, Riekelt H. Houtkooper, Berith M. Balfoort
Publikováno v:
Molecular Genetics and Metabolism, 134(1-2), 96-116. ACADEMIC PRESS INC ELSEVIER SCIENCE
Gyrate atrophy of the choroid and retina (GACR) is a rare inborn error of amino acid metabolism caused by bi-allelic variations in OAT. GACR is characterised by vision decline in early life eventually leading to complete blindness, and high plasma or
Autor:
Agnès Rötig, Manuel Schiff, Volodia Dangouloff-Ros, Nathalie Boddaert, Marie Sissler, Giulia Barcia, Shimon Edvardson, Isabelle Desguerre, Arnold Munnich, Raphael Levy, Orli Elpeleg, Charles-Joris Roux
Publikováno v:
Molecular Genetics and Metabolism
Molecular Genetics and Metabolism, 2021, 133 (2), pp.222-229. ⟨10.1016/j.ymgme.2021.04.004⟩
Molecular Genetics and Metabolism, Elsevier, 2021, 133 (2), pp.222-229. ⟨10.1016/j.ymgme.2021.04.004⟩
Molecular Genetics and Metabolism, 2021, 133 (2), pp.222-229. ⟨10.1016/j.ymgme.2021.04.004⟩
Molecular Genetics and Metabolism, Elsevier, 2021, 133 (2), pp.222-229. ⟨10.1016/j.ymgme.2021.04.004⟩
International audience; Background and purpose: Mitochondrial aminoacyl-tRNA synthetases-encoded by ARS2 genes-are evolutionarily conserved enzymes that catalyse the attachment of amino acids to their cognate tRNAs, ensuring the accuracy of the mitoc
Autor:
Adrienne Ohler, Tara K. Crawford, Victoria L Gremminger, Laura C. Schulz, R. Scott Rector, Emily N. Harrelson, Charlotte L. Phillips
Publikováno v:
Mol Genet Metab
Osteogenesis imperfecta (OI) is a heritable connective tissue disorder with patients exhibiting bone fragility and muscle weakness. The synergistic biochemical and biomechanical relationship between bone and muscle is a critical potential therapeutic
Autor:
Eric S. Goetzman, Irina L. Tourkova, Harry C. Blair, Steven F. Dobrowolski, Kayla Spridik, Jerry Vockley, Yu Leng Phua, Cayla Sudano
Publikováno v:
Molecular Genetics and Metabolism. 132:173-179
Osteopenia occurs in a subset of phenylalanine hydroxylase (PAH) deficient phenylketonuria (PKU) patients. While osteopenia is not fully penetrant in patients, the Pahenu2 classical PKU mouse is universally osteopenic, making it an ideal model of the
Autor:
Petr Dusek, Troy C. Lund, Paul J. Orchard, Katarina Jurickova, Jitka Majovska, Manuela Vaneckova, David Nascene, Martin Magner, Anna Hlavatá, Amy Paulson, Jiri Zeman, Igor Nestrasil
Publikováno v:
Molecular Genetics and Metabolism. 132:189-197
Objective Despite profound neurological symptomatology there are only few MRI studies focused on the brain abnormalities in alpha-mannosidosis (AM). Our aim was to characterize brain MRI findings in a large cohort of AM patients along with clinical m
Autor:
Luca Fierro, Manisha Balwani, Praveena Narayanan, Nora Nesheiwat, Pramod K. Mistry, Hetanshi Naik
Publikováno v:
Molecular Genetics and Metabolism
SARS-CoV-2 infection carries high morbidity and mortality in individuals with chronic disorders. Its impact in rare disease populations such as Gaucher disease (GD) is unknown. In GD, decreased acid β-glucosidase activity leads to the accumulation o
Publikováno v:
Mol Genet Metab
Sjögren-Larsson syndrome (SLS) is an inherited metabolic disease characterized by ichthyosis, spasticity, intellectual disability and deficient oxidation and accumulation of of fatty aldehydes and alcohols. We investigated whether excess fatty alcoh
Autor:
Meral Gunay-Aygun, Nehna Abdul Majeed, Linda Lukose, Theo Heller, Joy Bryant, Esperanza Font-Montgomery, Peter L. Choyke, Peter Veppumthara, Ismail B. Turkbey, William A. Gahl
Publikováno v:
Mol Genet Metab
Background and objectives We have previously published the characteristics of kidney and liver disease in a cohort of 73 individuals with molecularly confirmed autosomal recessive polycystic kidney disease-congenital hepatic fibrosis, based upon cros
Autor:
Paula Rozenfeld, María Victoria Delpino, Andrea Crivaro, Maximiliano Ormazabal, Juan Marcos Mucci, Constanza María Bondar, Ricardo A. Feldman
Publikováno v:
Molecular Genetics and Metabolism. 130:274-282
Gaucher disease (GD) is caused by pathogenic mutations in GBA1, the gene that encodes the lysosomal enzyme β-glucocerebrosidase. Until now, treatments for GD cannot completely reverse bone problems. The aim of this work was to evaluate the potential
Autor:
A. Broomfield, Clare E. Beesley, Karen Tylee, C. Stewart, Jane Roberts, S. Santra, Maureen Cleary, Anupam Chakrapani, Uma Ramaswami, Elisabeth Jameson, Simon Jones, S. Vijay, Julian Raiman, B. Schwahn, James Davison, Stephan Rust, S. Sreekantam, Pauline Hensman
Publikováno v:
Molecular Genetics and Metabolism. 129:98-105
The outcome of 110 patients with paediatric onset mucopolysaccharidosis II (MPS II) since the commercial introduction of enzyme replacement therapy (ERT) in England in 2007 is reported. Median length of follow up was 10 years 3 months (range = 1 y 2