Literature DB >> 9598054

Effect of D-ribose administration to a patient with inherited deficit of adenylosuccinase.

C Salerno1, M Celli, R Finocchiaro, P D'Eufemia, P Iannetti, C Crifò, O Giardini.   

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Year:  1998        PMID： 9598054     DOI： 10.1007/978-1-4615-5381-6_34

Source DB:  PubMed          Journal:  Adv Exp Med Biol        ISSN： 0065-2598            Impact factor:   2.622


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  7 in total

1.  D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect.

Authors:  A Jurecka; A Tylki-Szymanska; M Zikanova; J Krijt; S Kmoch
Journal:  J Inherit Metab Dis       Date:  2008-07-12       Impact factor: 4.982

Review 2.  Adenylosuccinate lyase deficiency.

Authors:  Agnieszka Jurecka; Marie Zikanova; Stanislav Kmoch; Anna Tylki-Szymańska
Journal:  J Inherit Metab Dis       Date:  2014-08-12       Impact factor: 4.982

3.  Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines.

Authors:  Xiao Mao; Kai Li; Beisha Tang; Yang Luo; Dongxue Ding; Yuwen Zhao; Chunrong Wang; Xiaoting Zhou; Zhenhua Liu; Yuan Zhang; Puzhi Wang; Qian Xu; Qiying Sun; Kun Xia; Xinxiang Yan; Hong Jiang; Shen Lu; Jifeng Guo
Journal:  Sci Rep       Date:  2017-05-09       Impact factor: 4.379

4.  A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.

Authors:  Marina Macchiaiolo; Sabina Barresi; Francesco Cecconi; Ginevra Zanni; Marcello Niceta; Emanuele Bellacchio; Giacomo Lazzarino; Angela Maria Amorini; Enrico Silvio Bertini; Salvatore Rizza; Benedetta Contardi; Marco Tartaglia; Andrea Bartuli
Journal:  Ital J Pediatr       Date:  2017-08-02       Impact factor: 2.638

5.  Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype.

Authors:  Marina Macchiaiolo; Paola Sabrina Buonuomo; Gerarda Mastrogiorgio; Matteo Bordi; Beatrice Testa; Gerrit Weber; Emanuele Bellacchio; Marco Tartaglia; Francesco Cecconi; Andrea Bartuli
Journal:  Mol Genet Metab Rep       Date:  2020-05-06

6.  Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.

Authors:  Gerarda Mastrogiorgio; Marina Macchiaiolo; Paola Sabrina Buonuomo; Emanuele Bellacchio; Matteo Bordi; Davide Vecchio; Kari Payne Brown; Natalie Karen Watson; Benedetta Contardi; Francesco Cecconi; Marco Tartaglia; Andrea Bartuli
Journal:  Orphanet J Rare Dis       Date:  2021-03-01       Impact factor: 4.123

7.  The nonessentiality of essential genes in yeast provides therapeutic insights into a human disease.

Authors:  Piaopiao Chen; Dandan Wang; Han Chen; Zhenzhen Zhou; Xionglei He
Journal:  Genome Res       Date:  2016-07-20       Impact factor: 9.043
  7 in total

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