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Year Number of Results
2013 1
2014 5
2015 7
2016 2
2017 3
2018 4
2019 10
2020 6
2021 7
2022 5
2023 3
2024 1

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46 results

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Page 1
Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Zielonka M, et al. Ann Clin Transl Neurol. 2019 Sep;6(9):1858-1871. doi: 10.1002/acn3.50886. Epub 2019 Aug 30. Ann Clin Transl Neurol. 2019. PMID: 31469252 Free PMC article.
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiency.
Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M; E-HOD Consortium. Yverneau M, et al. J Inherit Metab Dis. 2022 Jul;45(4):848-861. doi: 10.1002/jimd.12504. Epub 2022 May 9. J Inherit Metab Dis. 2022. PMID: 35460084 Free article.
Metabolic Serendipities of Expanded Newborn Screening.
Yahyaoui R, Blasco-Alonso J, Gonzalo-Marín M, Benito C, Serrano-Nieto J, González-Gallego I, Ruiz-Sala P, Pérez B, González-Lamuño D. Yahyaoui R, et al. Among authors: blasco alonso j. Genes (Basel). 2020 Aug 29;11(9):1018. doi: 10.3390/genes11091018. Genes (Basel). 2020. PMID: 32872442 Free PMC article.
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Posset R, et al. Genet Med. 2024 Apr;26(4):101039. doi: 10.1016/j.gim.2023.101039. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054409 Free article.
Non-alcoholic fatty liver in hereditary fructose intolerance.
Aldámiz-Echevarría L, de Las Heras J, Couce ML, Alcalde C, Vitoria I, Bueno M, Blasco-Alonso J, Concepción García M, Ruiz M, Suárez R, Andrade F, Villate O. Aldámiz-Echevarría L, et al. Among authors: blasco alonso j. Clin Nutr. 2020 Feb;39(2):455-459. doi: 10.1016/j.clnu.2019.02.019. Epub 2019 Feb 15. Clin Nutr. 2020. PMID: 30833214 Free article.
Sirolimus for the Treatment of Juvenile Polyposis in Childhood.
Martín-Masot R, Cardelo Autero N, Ortiz Pérez P, Torcuato Rubio E, Vázquez Pedreño L, Gallego Fernández C, Blasco-Alonso J, Navas-López VM. Martín-Masot R, et al. Among authors: blasco alonso j. ACG Case Rep J. 2021 Aug 25;8(8):e00646. doi: 10.14309/crj.0000000000000646. eCollection 2021 Aug. ACG Case Rep J. 2021. PMID: 34476273 Free PMC article.
Cardiometabolic and Nutritional Morbidities of a Large, Adult, PKU Cohort from Andalusia.
Dios-Fuentes E, Gonzalo Marin M, Remón-Ruiz P, Benitez Avila R, Bueno Delgado MA, Blasco Alonso J, Doulatram Gamgaram VK, Olveira G, Soto-Moreno A, Venegas-Moreno E. Dios-Fuentes E, et al. Among authors: blasco alonso j. Nutrients. 2022 Mar 21;14(6):1311. doi: 10.3390/nu14061311. Nutrients. 2022. PMID: 35334968 Free PMC article.
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M; individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD); Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M. Keller R, et al. Among authors: blasco alonso j. J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034. J Inherit Metab Dis. 2019. PMID: 30740731 Free article.
Herbst's Triad as a Manifestation of Gastroesophageal Reflux Disease.
Torcuato Rubio E, Martín-Masot R, Ortiz Pérez P, Serrano Nieto MJ, Díaz Ruiz J, Blasco-Alonso J, Navas-López VM. Torcuato Rubio E, et al. Among authors: blasco alonso j. JPGN Rep. 2021 Mar 30;2(2):e066. doi: 10.1097/PG9.0000000000000066. eCollection 2021 May. JPGN Rep. 2021. PMID: 37207055 Free PMC article. No abstract available.
46 results