Literature DB >> 28562522

A Child With Ichthyosis and Liver Failure.

Giuseppe Indolfi1, Maria Iascone, Giulia Remaschi, Maria A Donati, Claudia Nesti, Anna Rubegni, Laura Pezzoli, Anna M Buccoliero, Filippo M Santorelli, Massimo Resti.   

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Year:  2017        PMID： 28562522     DOI： 10.1097/MPG.0000000000001645

Source DB:  PubMed          Journal:  J Pediatr Gastroenterol Nutr        ISSN： 0277-2116            Impact factor:   2.839


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  3 in total

1.  Leigh syndrome associated with TRMU gene mutations.

Authors:  Júlia Sala-Coromina; Lucía Dougherty-de Miguel; Javier de Las Heras; Amaia Lasa-Aranzasti; Elena Garcia-Arumi; Lidia Carreño; Jose Antonio Arranz; Clara Carnicer; María Unceta-Suárez; Angel Sanchez-Montañez; Laura Gort; Frederic Tort; Mireia Del Toro
Journal:  Mol Genet Metab Rep       Date:  2020-12-15

2.  Bi-allelic variants in MTMR5/SBF1 cause Charcot-Marie-Tooth type 4B3 featuring mitochondrial dysfunction.

Authors:  Beatrice Berti; Giovanna Longo; Francesco Mari; Stefano Doccini; Ilaria Piccolo; Maria Alice Donati; Francesca Moro; Renzo Guerrini; Filippo M Santorelli; Vittoria Petruzzella
Journal:  BMC Med Genomics       Date:  2021-06-12       Impact factor: 3.063

Review 3.  Whole-exome sequencing identified novel compound heterozygous variants in a Chinese neonate with liver failure and review of literature.

Authors:  Zailong Qin; Qi Yang; Shang Yi; Limei Huang; Yiping Shen; Jingsi Luo
Journal:  Mol Genet Genomic Med       Date:  2020-11-18       Impact factor: 2.183
  3 in total

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