Zobrazeno 1 - 10
of 131
pro vyhledávání: '"Estela Rubio‐Gozalbo"'
Autor:
Dulce Quelhas, Sandra D.K. Kingma, An I. Jonckheere, Claudia S. Smeets-Peels, Daniel Costa Gomes, José Duro, Anabela Oliveira, Gert Matthijs, Laura K.M. Steinbusch, Jaak Jaeken, Isabel Rivera, Estela Rubio-Gozalbo
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101057- (2024)
The authors report the natural history of three patients with late-diagnosed Classic Galactosemia (CG) (at 16, 19 and 28 years). This was due to a combination of factors: absence of neonatal screening, absence of some typical acute neonatal symptoms,
Externí odkaz:
https://doaj.org/article/6931300d149b424894c7347156a86442
Autor:
Eileen P. Treacy, Sebastian Vencken, Annet M. Bosch, Matthias Gautschi, Estela Rubio‐Gozalbo, Charlotte Dawson, Darragh Nerney, Hugh Owen Colhoun, Loai Shakerdi, Gregory M. Pastores, Roisin O'Flaherty, Radka Saldova
Publikováno v:
JIMD Reports, Vol 61, Iss 1, Pp 76-88 (2021)
Abstract Background Classical galactosemia (CG) (OMIM #230400) is a rare disorder of carbohydrate metabolism, due to deficiency of galactose‐1‐phosphate uridyltransferase (EC 2.7.7.12). The pathophysiology of the long‐term complications, mainly
Externí odkaz:
https://doaj.org/article/f9282f77401549bb87780cfc6729c8e5
Autor:
Inge Timmers, Alard Roebroeck, Matteo Bastiani, Bernadette Jansma, Estela Rubio-Gozalbo, Hui Zhang
Publikováno v:
PLoS ONE, Vol 11, Iss 12, p e0167884 (2016)
Neurite orientation dispersion and density imaging (NODDI) enables more specific characterization of tissue microstructure by estimating neurite density (NDI) and orientation dispersion (ODI), two key contributors to fractional anisotropy (FA). The p
Externí odkaz:
https://doaj.org/article/de8619097bfc489da88403fc224e17a5
Autor:
Petr E. Jira, Ron A. Wevers, Jan de Jong, Estela Rubio-Gozalbo, Fokje S.M. Janssen-Zijlstra, Arno F.J. van Heyst, Rob C.A. Sengers, Jan A.M. Smeitink
Publikováno v:
Journal of Lipid Research, Vol 41, Iss 8, Pp 1339-1346 (2000)
The Smith-Lemli-Opitz syndrome (SLOS) is caused by deficient Δ7-dehydrocholesterol reductase, which catalyzes the final step of the cholesterol biosynthetic pathway, resulting in low cholesterol and high concentrations of its direct precursors 7-deh
Externí odkaz:
https://doaj.org/article/e73b264a07374edab474c9549fa10d30
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:
Britt Derks, Greysha Rivera-Cruz, Synneva Hagen-Lillevik, E Naomi Vos, Didem Demirbas, Kent Lai, Eileen P Treacy, Harvey L Levy, Louise E Wilkins-Haug, M Estela Rubio-Gozalbo, Gerard T Berry
Publikováno v:
Human Reproduction Update, 29(2), 246-258. Oxford University Press
BACKGROUND Hypergonadotropic hypogonadism is a burdensome complication of classic galactosemia (CG), an inborn error of galactose metabolism that invariably affects female patients. Since its recognition in 1979, data have become available regarding
Publikováno v:
Journal of Personalized Medicine, Vol 11, Iss 2, p 75 (2021)
Type I (classic) galactosemia, galactose 1-phosphate uridylyltransferase (GALT)-deficiency is a hereditary disorder of galactose metabolism. The current therapeutic standard of care, a galactose-restricted diet, is effective in treating neonatal comp
Externí odkaz:
https://doaj.org/article/1eb7fe0382214cd8a2c653c4bc24d647
Autor:
Quinton S. Katler, Karolina M. Stepien, Nathan Paull, Sneh Patel, Michael Adams, Mehmet Cihan Balci, Gerard T. Berry, Annet M. Bosch, Angela DeLaO, Didem Demirbas, Julianna Edman, Can Ficicioglu, Melanie Goff, Stephanie Hacker, Ina Knerr, Kristen Lancaster, Hong Li, Bryce A. Mendelsohn, Brandi Nichols, Wladimir Bocca Vieira de Rezende Pinto, Júlio César Rocha, M. Estela Rubio‐Gozalbo, Michael Saad‐Naguib, Sabine Scholl‐Buergi, Sarah Searcy, Paulo Victor Sgobbi de Souza, Angela Wittenauer, Judith L. Fridovich‐Keil
Publikováno v:
Journal of inherited metabolic disease, 45(6), 1106-1117. Springer Netherlands
Journal of Inherited Metabolic Disease, 45(6), 1106-1117. Wiley
Journal of Inherited Metabolic Disease, 45(6), 1106-1117. Wiley
Patients with galactosemia who carry the S135L (c.404C>T) variant of GALT, documented to encode low-level residual GALT activity, have been under-represented in most prior studies of outcomes in Type 1 galactosemia. What is known about the acute and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dccf5bae9b52d36f5f72b14fedfa6a0
https://pure.amc.nl/en/publications/a-multinational-study-of-acute-and-longterm-outcomes-of-type-1-galactosemia-patients-who-carry-the-s135l-c404c--t-variant-of-galt(b1723fa3-849c-43e8-b224-fbc91dbbbe38).html
https://pure.amc.nl/en/publications/a-multinational-study-of-acute-and-longterm-outcomes-of-type-1-galactosemia-patients-who-carry-the-s135l-c404c--t-variant-of-galt(b1723fa3-849c-43e8-b224-fbc91dbbbe38).html
Autor:
Elianne P. Bulthuis, Merel J.W. Adjobo-Hermans, Bastiaan de Potter, Saskia Hoogstraten, Lisanne H.T. Wezendonk, Omar A.Z. Tutakhel, Liesbeth T. Wintjes, Bert van den Heuvel, Peter H.G.M. Willems, Erik-Jan Kamsteeg, M. Estela Rubio Gozalbo, Suzanne C.E.H. Sallevelt, Suzanne M. Koudijs, Joost Nicolai, Charlotte I. de Bie, Jessica E. Hoogendijk, Werner J.H. Koopman, Richard J. Rodenburg
Ionic calcium (Ca2+) is a key messenger in signal transduction and its mitochondrial uptake plays an important role in cell physiology. This uptake is mediated by the mitochondrial Ca2+uniporter (MCU), which is regulated by EMRE (essential MCU regula
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cf84aee657bd169254b5a731093db3fd
https://doi.org/10.1101/2022.10.31.514480
https://doi.org/10.1101/2022.10.31.514480
Autor:
Luise Sophie Ammer, Esmeralda Oussoren, Nicole Maria Muschol, Sandra Pohl, Maria Estela Rubio-Gozalbo, René Santer, Ralf Stuecker, Eik Vettorazzi, Sandra Rafaela Breyer
Publikováno v:
Journal of Clinical Medicine, Vol 9, Iss 3, p 728 (2020)
Mucolipidosis type II (MLII) is a rare lysosomal storage disorder caused by defective trafficking of lysosomal enzymes. Severe skeletal manifestations are a hallmark of the disease including hip dysplasia. This study aims to describe hip morphology a
Externí odkaz:
https://doaj.org/article/10223d64e352427393b343be6e88d853