Literature DB >> 15699704

Congenital disorder of glycosylation type Ia revealed by hypertransaminasemia and failure to thrive in a young boy with normal neurodevelopment.

Cristina Pancho1, Angels Garcia-Cazorla, Vincente Varea, Rafael Artuch, Immaculada Ferrer, Maria A Vilaseca, Paz Briones, Juame Campistol.   

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Year:  2005        PMID： 15699704     DOI： 10.1097/00005176-200502000-00030

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


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  3 in total

1.  Hypertransaminasemia: the end of a thread.

Authors:  Akira Matsui
Journal:  J Gastroenterol       Date:  2005-08       Impact factor: 7.527

2.  Mild clinical and biochemical phenotype in two patients with PMM2-CDG (congenital disorder of glycosylation Ia).

Authors:  M Casado; M M O'Callaghan; R Montero; C Pérez-Cerda; B Pérez; P Briones; E Quintana; J Muchart; A Aracil; M Pineda; R Artuch
Journal:  Cerebellum       Date:  2012-06       Impact factor: 3.847

Review 3.  Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients.

Authors:  Hudson H Freeze
Journal:  Biochim Biophys Acta       Date:  2009-09
  3 in total

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