Literature DB >> 3193313

Vitamin B12-responsive megaloblastic anemia, homocystinuria, and transient methylmalonic aciduria in cb1E disease.

M Tuchman1, P Kelly, D Watkins, D S Rosenblatt.   

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Year:  1988        PMID： 3193313     DOI： 10.1016/s0022-3476(88)80582-1

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  3 in total

1.  Clinical and biochemical observations in a patient with combined Pompe disease and cblC mutation.

Authors:  F A Wijburg; D S Rosenblatt; G D Vos; J W Oorthuys; L G van't Hek; B J Poorthuis; M K Sanders; R B Schutgens
Journal:  Eur J Pediatr       Date:  1992-02       Impact factor: 3.183

2.  cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period.

Authors:  Daniel Palanca; Angels Garcia-Cazorla; Jessica Ortiz; Cristina Jou; Victoria Cusí; Mariona Suñol; Teresa Toll; Belén Perez; Aida Ormazabal; Brian Fowler; Rafael Artuch
Journal:  JIMD Rep       Date:  2012-07-21

3.  Folate-responsive homocystinuria and megaloblastic anaemia in a female patient with functional methionine synthase deficiency (cblE disease).

Authors:  B Fowler; R B Schutgens; D S Rosenblatt; G P Smit; J Lindemans
Journal:  J Inherit Metab Dis       Date:  1997-11       Impact factor: 4.982
  3 in total

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