Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)-Reference-Cited by-同舟云学术

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC)

Published:1997-08 Issue:4 Volume:20 Page:528-538
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Rosenblatt D. S.¹²³⁴,Aspler A. L.¹³,Shevell M. I.⁴,Pletcher B. A.⁵,Fenton W. A.⁶,Seashore M. R.⁶⁷

Affiliation:

1. ; Department of Human Genetics; McGill University; Montreal Quebec Canada

2. ; Department of Biology; McGill University; Montreal Quebec Canada

3. ; Department of Medicine; McGill University; Montreal Quebec Canada

4. ; Department of Pediatrics; McGill University; Montreal Quebec Canada

5. ; Department of Pediatrics; University of Medicine and Dentistry - New Jersey Medical School; Newark New Jersey USA

6. ; Department of Genetics; Yale University; New Haven Connecticut USA

7. ; Department of Pediatrics; Yale University; New Haven Connecticut USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1005353530303/fullpdf

Reference29 articles.

1. A unique case of derangement of vitamin B12 metabolism;Anthony;Proc Aust Assoc Neurol,1976

2. Congenital defect in intracellular cobalamin metabolism resulting in homocysteinuria and methylmalonic aciduria. I. Case report and histopathology;Baumgartner;Helv Paediatr Acta,1979

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

4. Cor pulmonale as a complication of methylmalonic acidemia and homocystinuria (Cbl-C type);Brandstetter;Am J Med Genet,1990

5. Epileptiform ocular movements with methylmalonic aciduria and homocystinuria;Cogan;Am J Ophthalmol,1980

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