Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 17 (of 17 Records) |
Query Trace: Congenital Disorders Of Glycosylation[original query] |
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Common variations in ALG9 are not associated with bipolar I disorder: a family-based study. Behavioral and brain functions : BBF 2006 2 (): 25. Baysal Bora E, Willett-Brozick Joan E, Bacanu Silviu-Alin, Detera-Wadleigh Sevilla, Nimgaonkar Vishwajit |
Genetic variants of transferrin in the diagnosis of protein hypoglycosylation. Journal of inherited metabolic disease 2006 1 28 (6): 1184-8. Albahri Z, Marklová E, Vanícek H, Minxová L, Dédek P, Skálová |
Genetic variants of transferrin in cystic fibrosis. Journal of inherited metabolic disease 2008 Jun 31 (3): 457-61. Marklová E, Albahri Z, Vanícek H, Dedek P, Valis M, Kopácová M, Vávrová |
Glycan susceptibility factors in autism spectrum disorders. Molecular aspects of medicine 2016 Jul . Dwyer Chrissa A, Esko Jeffrey |
Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG. Journal of medical genetics 2017 8 55 (2): 137-142. Haijes Hanneke A, Jaeken Jaak, Foulquier François, van Hasselt Peter |
Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation. Pediatric research 2018 01 83 (1-1): 119-127. de la Morena-Barrio María E, Ballesta-Martínez María J, López-Gálvez Raquel, Antón Ana I, López-González Vanessa, Martínez-Ribot Laia, Padilla José, Miñano Antonia, García-Algar Oscar, Del Campo Miguel, Corral Javier, Guillén-Navarro Encarna, Vicente Vicen |
The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients. JIMD reports 2017 Jul . Vals Mari-Anne, Pajusalu Sander, Kals Mart, Mägi Reedik, Õunap Katr |
Congenital disorders of glycosylation: The Saudi experience. American journal of medical genetics. Part A 2017 7 173 (10): 2614-2621. Alsubhi Sarah, Alhashem Amal, Faqeih Eissa, Alfadhel Majid, Alfaifi Abdullah, Altuwaijri Waleed, Alsahli Saud, Aldhalaan Hesham, Alkuraya Fowzan S, Hundallah Khalid, Mahmoud Adel, Alasmari Ali, Mutairi Fuad Al, Abduraouf Hanem, AlRasheed Layan, Alshahwan Saad, Tabarki Brah |
Fast screening of N-glycosylation disorders by sialotransferrin profiling with capillary zone electrophoresis. Annals of clinical biochemistry 2018 5 55 (6): 693-701. Kingma H A, van der Sluijs F H, Heiner-Fokkema M |
Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls. Pediatric research 2018 11 84 (6): 837-841. Asteggiano Carla Gabriela, Papazoglu Magali, Bistué Millón María Beatriz, Peralta María Fernanda, Azar Nydia Beatriz, Spécola Norma Spécola, Guelbert Norberto, Suldrup Niels Suldrup, Pereyra Marcela, Dodelson de Kremer Raqu |
CSGALNACT1-congenital disorder of glycosylation: A mild skeletal dysplasia with advanced bone age. Human mutation 2019 11 41 (3): 655-667. Mizumoto Shuji, Janecke Andreas R, Sadeghpour Azita, Povysil Gundula, McDonald Marie T, Unger Sheila, Greber-Platzer Susanne, Deak Kristen L, Katsanis Nicholas, Superti-Furga Andrea, Sugahara Kazuyuki, Davis Erica E, Yamada Shuhei, Vodopiutz Jul |
Are the new genetic tools for diagnosis of Wilson disease helpful in clinical practice? JHEP reports : innovation in hepatology 2020 7 2 (4): 100114. Espinós Carmen, Ferenci Pet |
Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes. Orphanet journal of rare diseases 2020 2 15 (1): 40. Carmody Leigh C, Blau Hannah, Danis Daniel, Zhang Xingman A, Gourdine Jean-Philippe, Vasilevsky Nicole, Krawitz Peter, Thompson Miles D, Robinson Peter |
The Estimated Prevalence of N-Linked Congenital Disorders of Glycosylation Across Various Populations Based on Allele Frequencies in General Population Databases. Frontiers in genetics 2021 8 12 719437. Pajusalu Sander, Vals Mari-Anne, Mihkla Laura, Šamarina Ustina, Kahre Tiina, Õunap Katr |
Congenital disorders of glycosylation: Prevalence, incidence and mutational spectrum in the Polish population. Molecular genetics and metabolism reports 2021 Jun 27 100726. Lipi?ski Patryk, Bogda?ska Anna, Tylki-Szyma?ska An |
Congenital disorder of glycosylation with defective fucosylation 2 (FCSK gene defect): The third report in the literature with a mild phenotype. Molecular genetics & genomic medicine 2022 11 e2117. Al Tuwaijri Abeer, Alyafee Yusra, Umair Muhammad, Alsubait Arwa, Alharbi Mashael, AlEidi Hamad, Ballow Mariam, Aldrees Mohammed, Alam Qamre, Al Abdulrahman Abdulkareem, Alrifai Muhammad Talal, Alfadhel Maj |
Aberrant N-glycosylation is a therapeutic target in carriers of a common and highly pleiotropic mutation in the manganese transporter ZIP8. bioRxiv : the preprint server for biology 2024 7 . Vartika Tomar, John Kang, Ruxian Lin, Steven R Brant, Mark Lazarev, Caitlin Tressler, Kristine Glunde, Natasha Zachara, Joanna Mel |
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