Literature DB >> 26693676

Severe neonatal jaundice due to a de novo glucose-6-phosphate dehydrogenase deficient mutation.

R Del Orbe Barreto1, B Arrizabalaga2,3, A B de la Hoz2, P Aragües3, J C Garcia-Ruiz2,3, A Arrieta4, R Adán5, L Manco6,7, S Macedo-Ribeiro8, C Bento6, M L Ribeiro6.   

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Year:  2015        PMID： 26693676     DOI： 10.1111/ijlh.12455

Source DB:  PubMed          Journal:  Int J Lab Hematol        ISSN： 1751-5521            Impact factor:   2.877


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  2 in total

Review 1.  Glucose-6-Phosphate Dehydrogenase Deficiency and Neonatal Hyperbilirubinemia: Insights on Pathophysiology, Diagnosis, and Gene Variants in Disease Heterogeneity.

Authors:  Heng Yang Lee; Azlin Ithnin; Raja Zahratul Azma; Ainoon Othman; Armindo Salvador; Fook Choe Cheah
Journal:  Front Pediatr       Date:  2022-05-24       Impact factor: 3.569

2.  Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence.

Authors:  Giulia Canu; Giorgia Mazzuccato; Andrea Urbani; Angelo Minucci
Journal:  Hum Genome Var       Date:  2018-01-04
  2 in total

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