Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism-Reference-Cited by-同舟云学术

Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism

Published:1999-05 Issue:3 Volume:22 Page:247-250
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Cerone R.¹,Schiaffino M. C.¹,Caruso U.¹,Lupino S.¹,Gatti R.²

Affiliation:

1. ; University Department of Pediatrics; G. Gaslini Institute; Genova Italy

2. ; 3rd Division of Pediatrics; G. Gaslini Institute; Genova Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005521702298/fullpdf

Reference6 articles.

1. Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria;Bellini;Eur J Pediatr,1992

2. Capillary GC-MS stable isotope dilution of methylmalonic acid in plasma: a candidate reference method for the diagnosis and the follow-up of methylmalonic acidaemias;Caruso;Chromatographia,1993

3. Syndrome hemolytique et uremique neonatal, acidurie methylmalonique et homocystinurie par deficit intracellulaire de la vitamine B12;Cerone;Arch Pediatr,1994

4. New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria;Rosenblatt;Pediatrics,1986

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