Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Stephanie Grűnewald"'
Autor:
Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Anupam Chakrapani, Emma Footitt, Helen Prunty, Melanie McSweeney
Publikováno v:
JIMD Reports, Vol 64, Iss 5, Pp 317-326 (2023)
Abstract In urea cycle disorders (UCDs) ammonia scavenger drugs, usually sodium‐based, have been the mainstay of treatment. Increasingly, glycerol phenylbutyrate (GPB, Ravicti®) is being used but scant real‐world data exist regarding clinical ou
Externí odkaz:
https://doaj.org/article/cb4630541705478ab681b28299176d20
Autor:
Abigail Whitehouse, Preeya Rehsi, Louise Hartley, Stephanie Grunewald, Berna Seker Yilmaz, Kelly Pegoretti Baruteau, Ayhan Yaman, Suren Thavagnanam, Julien Baruteau
Publikováno v:
JIMD Reports, Vol 64, Iss 4, Pp 274-281 (2023)
Abstract Isolated remethylation defects are rare inherited diseases caused by a defective remethylation of homocysteine to methionine, preventing various essential methylation reactions to occur. Patients present with a systemic phenotype, which can
Externí odkaz:
https://doaj.org/article/66c11afb48324ab3ad01b514a9c34170
Autor:
Bianca Panis, E. Naomi Vos, Ivo Barić, Annet M. Bosch, Martijn C. G. J. Brouwers, Alberto Burlina, David Cassiman, David J. Coman, María L. Couce, Anibh M. Das, Didem Demirbas, Aurélie Empain, Matthias Gautschi, Olga Grafakou, Stephanie Grunewald, Sandra D. K. Kingma, Ina Knerr, Elisa Leão-Teles, Dorothea Möslinger, Elaine Murphy, Katrin Õunap, Adriana Pané, Sabrina Paci, Rossella Parini, Isabel A. Rivera, Sabine Scholl-Bürgi, Ida V. D. Schwartz, Triantafyllia Sdogou, Loai A. Shakerdi, Anastasia Skouma, Karolina M. Stepien, Eileen P. Treacy, Susan Waisbren, Gerard T. Berry, M. Estela Rubio-Gozalbo
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Classic galactosemia (CG, OMIM #230400, ORPHA: 79,239) is a hereditary disorder of galactose metabolism that, despite treatment with galactose restriction, affects brain function in 85% of the patients. Problems with cognitive function, neuropsycholo
Externí odkaz:
https://doaj.org/article/7beddebac074439492e10a7f8e3d6ca8
Autor:
Berna Seker Yilmaz, Julien Baruteau, Anupam Chakrapani, Michael Champion, Efstathia Chronopoulou, Lee C. Claridge, Anne Daly, Catherine Davies, James Davison, Anil Dhawan, Stephanie Grunewald, Girish L. Gupte, Nigel Heaton, Hugh Lemonde, Pat McKiernan, Philippa Mills, Andrew A.M. Morris, Helen Mundy, Germaine Pierre, Sanjay Rajwal, Siyamini Sivananthan, Srividya Sreekantam, Karolina M. Stepien, Roshni Vara, Mildrid Yeo, Paul Gissen
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101020- (2023)
Ornithine transcarbamylase deficiency (OTCD) is an X-linked defect of ureagenesis and the most common urea cycle disorder. Patients present with hyperammonemia causing neurological symptoms, which can lead to coma and death. Liver transplantation (LT
Externí odkaz:
https://doaj.org/article/4b378179f00043a097ba2e977f075d5f
Autor:
Britt Derks, Didem Demirbas, Rodrigo R. Arantes, Samantha Banford, Alberto B. Burlina, Analía Cabrera, Ana Chiesa, M. Luz Couce, Carlo Dionisi-Vici, Matthias Gautschi, Stephanie Grünewald, Eva Morava, Dorothea Möslinger, Sabine Scholl-Bürgi, Anastasia Skouma, Karolina M. Stepien, David J. Timson, Gerard T. Berry, M. Estela Rubio-Gozalbo
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Galactose epimerase (GALE) deficiency is a rare hereditary disorder of galactose metabolism with only a few cases described in the literature. This study aims to present the data of patients with GALE deficiency from different cou
Externí odkaz:
https://doaj.org/article/7b30d0500cf94f298bf161b0d11d2fb6
Autor:
Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Anupam Chakrapani, Emma Footitt, Helen Prunty, Melanie McSweeney
Publikováno v:
JIMD Reports, Vol 63, Iss 2, Pp 137-145 (2022)
Abstract Long‐term management of urea cycle disorders (UCDs) often involves unlicensed oral sodium benzoate (NaBz) which has a high volume and unpleasant taste. A more palatable treatment is licenced and available (glycerol phenylbutyrate [GPB], Ra
Externí odkaz:
https://doaj.org/article/15e4a12d942640829b4d39a2b6c7adb6
Autor:
Eugen Mengel, Bruno Bembi, Mireia del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Grønborg, Bénédicte Héron, Esther M. Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Simon Day, Tara Symonds, Stacie Hudgens, Marc C. Patterson, Christina Guldberg, Linda Ingemann, Nikolaj H. T. Petersen, Thomas Kirkegaard, Christine í Dali
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-3 (2021)
An amendment to this paper has been published and can be accessed via the original article.
Externí odkaz:
https://doaj.org/article/3525e157591141978b324498de1df8af
Autor:
Nazreen Kamarus Jaman, Preeya Rehsi, Robert H. Henderson, Ulrike Löbel, Kshitij Mankad, Stephanie Grunewald
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: SRD5A3-CDG is a rare N-glycosylation defect caused by steroid 5 alpha reductase type 3 deficiency. Its key feature is an early severe visual impairment with variable ocular anomalies often leading to diagnosis. Additional symptoms are sti
Externí odkaz:
https://doaj.org/article/2c1a32e28fbe4d858ef21bf2008b43ac
Publikováno v:
JIMD Reports, Vol 49, Iss 1, Pp 43-47 (2019)
Abstract Imerslund‐Grasbeck syndrome (IGS, OMIM 261100) is a rare autosomal recessive disease characterized by vitamin B12 malabsorption resulting in megaloblastic anemia and asymptomatic proteinuria. IGS is caused by bi‐allelic mutations in eith
Externí odkaz:
https://doaj.org/article/7aec8fbc282941f49877c204f0f051c8
Publikováno v:
Brain Sciences, Vol 11, Iss 1, p 88 (2021)
Most plasma proteins, cell membrane proteins and other proteins are glycoproteins with sugar chains attached to the polypeptide-glycans. Glycosylation is the main element of the post-translational transformation of most human proteins. Since glycosyl
Externí odkaz:
https://doaj.org/article/fab9f28dc11b4ab0952a015173d770cf