Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 5 (of 5 Records) |
Query Trace: Alkaptonuria[original query] |
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A Founder Effect for the HGD G360R Mutation in Italy: Implications for a Regional Screening of Alkaptonuria. JIMD reports 2016 Mar . Porfirio Berardino, Sestini Roberta, Gorelli Greta, Cordovana Miriam, Mannoni Alessandro, Usher Jeanette L, Introne Wendy J, Gahl William A, Vilboux Thier |
Homogentisate 1,2-dioxygenase (HGD) gene variants, their analysis and genotype-phenotype correlations in the largest cohort of patients with AKU. European journal of human genetics : EJHG 2019 2 27 (6): 888-902. Ascher David B, Spiga Ottavia, Sekelska Martina, Pires Douglas E V, Bernini Andrea, Tiezzi Monica, Kralovicova Jana, Borovska Ivana, Soltysova Andrea, Olsson Birgitta, Galderisi Silvia, Cicaloni Vittoria, Ranganath Lakshminarayan, Santucci Annalisa, Zatkova Andr |
Variant Analysis of Alkaptonuria Families with Significant Founder Effect in Jordan. BioMed research international 2021 7 2021 1515641. Khalil Raida, Ali Dema, Mwafi Nesrin, Alsaraireh Arwa, Obeidat Loiy, Albsoul Eman, Al Sbou' Ibrah |
Alkaptonuria in Russia: mutational spectrum and novel variants. European journal of medical genetics 2021 2 64 (4): 104165. Bychkov Igor, Kamenets Elena, Kurkina Marina, Rychkov Georgiy, Ilyushkina Alexandra, Filatova Aleksandra, Guseva Darya, Baydakova Galina, Nekrasov Andrey, Cheblokov Aleksandr, Skoblov Mikhail, Zakharova Ekateri |
Clinical presentation of 13 children with alkaptonuria. Journal of inherited metabolic disease 2023 7 . Mariusz J Kujawa, Dominik ?wi?to?, Jolanta Wierzba, Ma?gorzata Grzywi?ska, Oskar Budzi?o, Monika Limanówka, Karolina Pierzynowska, Lidia Gaffke, ?ukasz Grabowski, Zuzanna Cyske, Estera Rintz, ?ukasz R?balski, Maciej Kosi?ski, Grzegorz W?grzyn, Arkadiusz Ma?ski, Paulina Anikiej-Wiczenbach, Lakshminarayan Ranganath, Maciej Piskunowi |
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